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1074 variant records found

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By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

OMIA ID(s) Species Name Breed(s) Variant Phenotype Gene Allele Type of Variant Deleterious? Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
OMIA 000042-9031 chicken Wisconsin hypoalpha mutant (WHAM) Analphalipoproteinaemia ABCA1 missense yes Gallus_gallus-5.0 Z g.54792686 c.265G>A p.E89K 2002 12364545 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002193-9913 cattle Chianina Ichthyosis fetalis ABCA12 missense yes UMD3.1 2 g.103543077A>G c.5804A>G p.H1935R 2008 18344998 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002179-9615 dog Labrador Retriever Stargardt disease 1 ABCA4 insertion, small (<=20) yes CanFam3.1 6 g.55146549insC c.4176insC p.F1393Lfs*1395 Mäkeläinen et al. (2019): "ENSCAFT00000005367 exon28 4170dupC* V1390fs" Importantly, the same authors also explain in Table S3 that "*The insertion is found in a cytosine mononucleotide-repeat region [55,146,550–55,146,556] and it is arbitrary at what position the actual insertion occurs. In the text we have denoted the insertion as c.4176insC, p.F1393Lfs*1395)." 2019 30889179
OMIA 001402-9615 dog Border Collie Multidrug resistance 1 ABCB1 regulatory no c.-6-180T>G 2011 21488961
OMIA 001402-9615 dog Australian Shepherd Border Collie Collie German Shepherd Dog Longhaired whippet Miniature Australian shepherd Old English Sheepdog Shetland Sheepdog Silken windhound Waller White Swiss shepherd Multidrug resistance 1 ABCB1 deletion, small (<=20) yes c.295_298delAGAT p.Asp75fs 2001 11692082 Variant information gleaned from or confirmed by Donner et al. (2016) PLoS One 11:e0161005
OMIA 001402-9615 dog Border Collie Multidrug resistance 1 ABCB1 insertion, small (<=20) yes c.73insAAT 2010 21113104
OMIA 001524-9615 dog Shetland Sheepdog Gallbladder mucoceles ABCB4 insertion, small (<=20) yes c.1583_1584G 2010 20598156
OMIA 001089-9541 crab-eating macaque Blood group system ABO ABO missense no 1998 9583803
OMIA 001089-9544 Rhesus monkey Blood group system ABO ABO missense no 266; 268 1998 9583803
OMIA 001089-9579 agile gibbon Blood group system ABO ABO missense no c.2178C>A and c.2185G>C 2009 19298858
OMIA 001089-9580 common gibbon Blood group system ABO ABO missense no c.2178C>A and c.2185G>C 2009 19298858
OMIA 001089-9598 chimpanzee Blood group system ABO ABO deletion, small (<=20) no c.514_522delGTGCTGGAG p.172-174delVLE 1999 10380696
OMIA 001089-9598 chimpanzee Blood group system ABO ABO missense no c.791A>C p.Y264C 1999 10380696
OMIA 002140-9615 dog German Hunting Terrier Exercise induced metabolic myopathy ACADVL nonsense (stop-gain) unknown CanFam3.1 5 g.32193689C>A c.1728C>A p.Tyr576* 2018 29491033
OMIA 001271-9796 horse Miniature Dwarfism, ACAN-related ACAN D4 deletion, small (<=20) yes Ecab 3.0 1 g.95257458_95257500del p.Phe2017–Asp2023del rs1095048839 2018 30058072
OMIA 001271-9796 horse Miniature Shetland Dwarfism, ACAN-related ACAN D3* missense yes Ecab 3.0 1 g.95282140C>G p.A505P This variant was named D3* by Eberth et al. (2018) rs1095048823 2017 27942904 Variant coordinates obtained from Eberth et al. (2018)
OMIA 001271-9796 horse Miniature Dwarfism, ACAN-related ACAN D2 missense yes Ecab 3.0 1 g.95284530C>T p.Val424Met 2018 30058072
OMIA 001271-9796 horse Miniature Dwarfism, ACAN-related ACAN D1 deletion, small (<=20) yes Ecab 3.0 1 g.95291270del p.Lys82fx rs1095048841 2018 30058072
OMIA 000702-9031 chicken Nanomelia ACAN nonsense (stop-gain) yes Galgal4 10 g.12554157G>T c.4537G>T p.E1513* 1994 7827752 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001271-9913 cattle Miniature Zebu Bulldog calf ACAN insertion, small (<=20) yes UMD 3.1 21 g.20850999insC c.5686insC p.Val1898fsTer9 2018 30305023
OMIA 001271-9913 cattle Dexter Bulldog calf ACAN BD2 regulatory yes UMD3.1 21 g.20800319C>T c.-198C>T 2007 17952705 Variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001271-9913 cattle Dexter Scottish Highland Bulldog calf ACAN BD1 insertion, small (<=20) yes UMD3.1 21 g.20844569_20844570insGGCA c.2266_2267insGGCA 2007 17952705 Variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 002177-9615 dog Akita American Akita Amelogenesis imperfecta, ACP4-related ACPT insertion, small (<=20) yes CanFam3.1 1 c.1189dupG p.Ala397Glyfs 2019 30877375
OMIA 000388-9685 domestic cat Domestic Shorthair Fibrodysplasia ossificans progressiva ACVR1 missense yes Felis_catus_9.0 C1 c.617G>A p.R206H Casal et al. (2019): NC_018730.3. 2019 31007133
OMIA 001520-9615 dog Glen of Imaal Terrier Cone-rod dystrophy 3 ADAM9 deletion, gross (>20) yes "a deletion of exons 15 and 16 which alters the reading frame leading to a premature stop codon" in the ADAM9 gene 2010 20691256
OMIA 001870-9615 dog Beagle Glaucoma, primary open angle ADAMTS10 missense yes p.G661R 2011 21379321
OMIA 001870-9615 dog Norwegian Elkhound Glaucoma, primary open angle ADAMTS10 missense yes CanFam3.1 20 g.53101896G>A c.1159G>A p.A387T 2014 25372548 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000588-9615 OMIA 001976-9615 dog Chinese Shar-Pei Primary open-angle glaucoma (POAG), primary lens luxation (PLL), or both ADAMTS17 deletion, small (<=20) yes CanFam 3.1 3 g.40935387_40935392delCGTGGT c.3070_3075delCGTGGT p.Val1025_Val1026del 2018 29287154
OMIA 001976-9615 dog Petit Basset Griffon Vendéen Glaucoma, primary open angle, ADAMTS17-related ADAMTS17 inversion yes CanFam3.1 Forman et al. (2015): "a 4.96 Mb inversion . . . with breakpoints in intron 12 of ADAMTS17 (chr3:40,812,274) and a downstream intergenic region (chr3:45,768,123)". 2015 26683476
OMIA 001976-9615 dog Basset Hound Glaucoma, primary open angle, ADAMTS17-related ADAMTS17 deletion, small (<=20) yes CanFam3.1 3 g.40614853_40614872del "19 bp deletion in exon 2 of ADAMTS17 (CanFam3.1 chr3:40,614,853-40,614,872)" 2015 26474315
OMIA 000588-9615 dog American hairless Chinese Crested Dog Jack Russell Terrier Lens luxation ADAMTS17 splicing yes CanFam3.1 3 g.40782144G>A c.1473+1G>A 2010 20375329 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001976-9615 dog Basset Fauve de Bretagne Glaucoma, primary open angle, ADAMTS17-related ADAMTS17 missense yes CanFam3.1 3 g.40808345G>A c.1552G>A p.G518S 2015 26474315 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000328-9913 cattle Belgian Blue Ehlers-Danlos syndrome, type VII (Dermatosparaxis) ADAMTS2 indel, small (<=20) yes UMD3.1 7 g.1957955_1957971delinsAGC c.464_480delinsAGC 1999 10417273 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000328-9940 sheep White Dorper Ehlers-Danlos syndrome, type VII (Dermatosparaxis) ADAMTS2 nonsense (stop-gain) yes XM_012156230; XP_012011620 c.424G>T p.E142* 2012 22497338
OMIA 000328-9940 sheep White Dorper Ehlers-Danlos syndrome, type VII (Dermatosparaxis) ADAMTS2 nonsense (stop-gain) yes XM_012156230; XP_012011620 c.805G>A p.V269M 2015 25354687
OMIA 001140-9615 dog Nova Scotia Duck Tolling retriever Cleft lip with or without cleft palate ADAMTS20 deletion, small (<=20) yes CanFam 3.1 c.1360_1361delAA p.Lys453Ilefs*3 2015 25798845
OMIA 001893-9615 dog Norwich Terrier Upper airway syndrome ADAMTS3 missense yes CanFam 3.1 13 g.61,287,796G>A c.2786G>A p.(Arg929His) 2019 31095560
OMIA 001509-9615 dog Beagle Musladin-Lueke syndrome ADAMTSL2 missense yes CanFam3.1 9 g.49931561C>T c.661C>T p.R221C 2010 20862248 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001511-9913 cattle Angus Contractual arachnodactyly (Fawn calf syndrome) ADAMTSL3 deletion, gross (>20) yes 21 "a large (~58 kilobase pair) deletion affecting the ADAMTSL3 gene" 2014 Reference not in PubMed; see OMIA 001511-9913 for reference details
OMIA 001577-9615 dog Curly-coated retriever Glycogen storage disease IIIa AGL deletion, small (<=20) yes c.4223delA 2007 17338148
OMIA 002135-9913 cattle Angus Arthrogryposis multiplex congenita, AGRN-related AGRN deletion, gross (>20) yes A 23,363 bp deletion "encompasses the entirety of the ISG15 ubiquitin-like modifier (ISG15) gene . . . one or both of the 5' regulatory region of the hairy and enhancer split 4 (HES4) and of the agrin (AGRN) gene and of the first two exons of the AGRN gene" (Beever and Marron, 2011) 2011 Reference not in PubMed; see OMIA 002135-9913 for reference details
OMIA 000662-9940 sheep Romney Marsh Motor neuron disease, lower AGTPBP1 missense yes c.2909G>C p.R970P 2012 22588130
OMIA 001672-9615 dog Coton de Tulear Primary hyperoxaluria type I (Oxalosis I) AGXT missense yes CanFam3.1 25 g.50968854G>A c.304G>A p.G102S 2012 22486513 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002162-9615 dog Karelian bear dog Hypophosphatasia ALPL missense yes CanFam 3.1 2 g.77561953A>C c.1301T>G p.V434G 2019 30700765
OMIA 001551-9685 domestic cat Brachycephaly ALX1 deletion, small (<=20) yes c.496delCTCTCAGGACTG 2016 26610632
OMIA 001009-9913 cattle Shorthorn Tibial hemimelia ALX4 deletion, gross (>20) yes Deletion of 45,694 bp including exon 1 of ALX4 2012 Reference not in PubMed; see OMIA 001009-9913 for reference details
OMIA 001009-9913 cattle Galloway Tibial hemimelia ALX4 duplication yes AC_000172; UMD3.1 g.75154399_75154418dup 2015 26076463
OMIA 000791-9615 dog Miniature Schnauzer Persistent Mullerian duct syndrome AMHR2 nonsense (stop-gain) yes c.241C>T p.R??* 2009 18723470
OMIA 000565-9615 dog Giant Schnauzer Intestinal cobalamin malabsorption, AMN-related AMN deletion, gross (>20) yes c.1113_1145del 2005 15845892
OMIA 000565-9615 dog Australian Shepherd Intestinal cobalamin malabsorption, AMN-related AMN regulatory yes 8 c.3G>A 2005 15845892
OMIA 000101-9615 dog Dalmatian Respiratory distress syndrome ANLN nonsense (stop-gain) yes CanFam3.1 14 g.47812143 c.31C>T p.R11* 2017 28222102 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001353-9615 dog German Shepherd Dog Platelet receptor for factor X, deficiency of ANO6 splicing yes CanFam3.1 27 g.8912219 G>A 2015 26414452 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002083-9913 cattle Japanese Black Abortion (embryonic lethality), ANXA10-related ANXA10 repeat variation yes "a "34-kb deleted-type" CNV "associated with embryonic mortality at 30-60 days after artificial insemination. The CNV harbors exon 2 to 6 of ANNEXIN A10 (ANXA10). . . . Western blot analysis showed that the CNV results in a null allele of ANXA10." 2016 27881083
OMIA 000248-9615 dog Collie Neutropenia, cyclic AP3B1 insertion, small (<=20) yes a single base pair insertion in exon 20 of AP3 beta gene (AP3B1) 2003 12897784
OMIA 000001-9913 cattle Friesian Holstein Abortion due to a nonsense mutation in APAF1 on haplotype HH1 APAF1 nonsense (stop-gain) yes UMD 3.1 5 g.63150400C>T c.1741C>T p.Q581* rs448942533 2016 27289157 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001965-9913 cattle Holstein Holstein cholesterol deficiency APOB insertion, gross (>20) yes "1.3kb insertion of a transposable LTR element (ERV2-1) in the coding sequence of the APOB gene, which leads to truncated transcripts and aberrant splicing [p.Gly135ValfsX10)]" 2016 26763170
OMIA 000991-9796 horse Warmblood Androgen insensitivity syndrome AR deletion, gross (>20) yes "a 25-bp deletion of the DNA-binding domain [of the AR gene]" 2017 28192783
OMIA 000991-9796 horse Quarter Horse Androgen insensitivity syndrome (AIS) AR regulatory yes c.1A>G mutation in start codon 2012 22095250
OMIA 000991-9796 horse Thoroughbred Androgen insensitivity syndrome AR missense yes c.2042G>C 2016 27073903
OMIA 001917-9615 dog Leonberger Saint Bernard Polyneuropathy, ARHGEF10-related ARHGEF10 deletion, small (<=20) yes CanFam2 16 c.1955_1958+6delCACGGTGAGC 2014 25275565
OMIA 001334-9913 cattle Swedish Red Sperm, short tail ARMC3 deletion, small (<=20) yes UMD3.1 13 g.24301426delG c.1442delG p.A451fs26 rs797454424 2016 26923438 Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000666-9615 dog Miniature Pinscher Miniature Schnauzer Mucopolysaccharidosis VI ARSB missense yes c.??G>A p.G??R 2004 Reference not in PubMed; see OMIA 000666-9615 for reference details
OMIA 000666-9615 dog Miniature Poodle Mucopolysaccharidosis VI ARSB deletion, gross (>20) yes CanFam3.1 3 g.27870253_27870274del c.103_124del p.Ala35GlyfsTer108 2012 22329490 Variant information kindly provided by Karthik Raj and Urs Giger
OMIA 000666-9615 dog Great Dane Mucopolysaccharidosis VI ARSB nonsense (stop-gain) yes CanFam3.1 3 g.27870445C>T c.295C>T p.Q99* 2017 29157190 Variant information kindly provided by Karthik Raj and Urs Giger, and confirmed by Ensembl's VEP
OMIA 000666-9685 domestic cat Siamese Mucopolysaccharidosis VI ARSB missense yes Felis_catus_6.2 A1 g.143229993T>C c.1427T>C p.L476P 1996 8910299 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001503-9615 dog American Staffordshire terrier Neuronal ceroid lipofuscinosis, 4A ARSG missense yes CanFam3.1 9 g.15071276G>A c.296G>A p.R99H 2010 20679209 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000201-9685 domestic cat Coat colour, non-agouti (black) ASIP deletion, small (<=20) no "a 2 bp deletion in the ASIP gene [at nucleotide positions 123-124]" 2003 12620197
OMIA 000201-10042 North American deer mouse New Hampshire Melanic (non-agouti) ASIP deletion, gross (>20) no "a 125-kb deletion, which includes the upstream regulatory region and exons 1 and 2 of Agouti, results in a loss of Agouti expression" 2009 19649329
OMIA 000201-9627 red fox Coat colour, agouti ASIP deletion, gross (>20) no "A deletion in the first coding exon of the agouti gene" 1997 9054949
OMIA 000201-9615 dog Coat colour, agouti ASIP insertion, gross (>20) no "a short interspersed element and a poly(A) stretch inserted within the promoter region of the ASIP" 2013 22524303
OMIA 000201-9913 cattle Normande Coat colour, agouti ASIP insertion, gross (>20) no "insertion of a full-length Bos taurus LINE element" 2006 16827753
OMIA 000201-9940 sheep Coat colour, agouti ASIP insertion, gross (>20) no a 190kb tandem duplication encompassing the ASIP gene, the neighbouring AHCY gene and the promoter for a third gene ITCH 2008 18493018
OMIA 001602-93934 Japanese quail Feather colour, fawn-2/beige ASIP Y^f2 duplication no 20 Robic et al. (2019) concluded "that fawn-2 and beige are the same allele, and that it is caused by a 70,895-bp tandem duplication . . . [with breakpoints] (NC-029535 [1,371,395(or 98)–1,442,295 (or 98)]) . . . located downstream of the ITCH exon 1 and upstream of the ASIP exon e4 (5′ UTR). . . . The 70,895 bp of the duplicated region include the entire AHCY gene on one strand, and parts of the ASIP and ITCH genes on the other strand." 2019 30987584
OMIA 000201-61386 Kodkod Coat colour, agouti ASIP missense no p.C126Y 2015 25695801
OMIA 000201-61406 Colocolo Coat colour, agouti ASIP missense no p.R120C 2015 25695801
OMIA 000201-10042 North American deer mouse Alaska Melanic (non-agouti) ASIP nonsense (stop-gain) no c.193?>? p.Q65* 2009 19649329
OMIA 000201-9615 dog Fawn or sable ASIP missense no c.244G>T; 248G>A p.A82S and p.R83H 2005 15965787
OMIA 000201-9691 leopard Black panther ASIP nonsense (stop-gain) no c.333C>A p.C111* 2012 23251368
OMIA 000201-9793 ass No light points ASIP NLP missense no c.349T>C p.C117R 2015 25887951
OMIA 001602-93934 Japanese quail Feather colour, recessive black ASIP rb deletion, small (<=20) no 20 c.373_380del "A deletion of 8 bases was found in the ASIP gene" 2008 18287406
OMIA 000201-61455 Asiatic golden cat Coat colour, agouti ASIP missense no c.384C>G p.C128W 2012 23251368
OMIA 000201-9986 rabbit Coat colour, agouti ASIP insertion, small (<=20) no c.5_6insA 2010 20004240
OMIA 001602-93934 Japanese quail Feather colour, lethal yellow ASIP Y deletion, gross (>20) yes 20 g.1,463,709_1,604,872del141,162 Nadeau et al. (2008): "a >90-kb deletion upstream of ASIP" 2008 18287407 The g. coordinates were provided by Robic et al. (2019)
OMIA 000201-9796 horse Coat colour, recessive black ASIP a deletion, small (<=20) no g.2174_2184del11 c.191_201del 2001 11353392
OMIA 000201-9615 dog Coat colour, agouti ASIP insertion, gross (>20) no CanFam3.1 24 g.23365298ins239 "a short interspersed nuclear element (SINE) insertion in intron 1 of ASIP that allows for the differentiation of the a(w) wolf sable and a(t) black-and-tan alleles" 2011 21846741 Genomic location and description kindly provided by Professor Claire wade in August 2018.
OMIA 000201-9615 dog German Shepherd Dog Recessive black ASIP missense no CanFam3.1 24 g.23393552C>T c.286C>T p.R96C 2004 15520882 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000201-9838 Arabian camel Black and dark-brown coat colour ASIP haplotype no KU179868 c.[23delT;c.25G>A] As described by Almathen et al. (2018), this haplotype comprises "a 1-bp deletion (23delT/T) and a SNP (25G/A) in exon 2 of ASIP". 2018 29893870
OMIA 002099-9615 dog German Shepherd Dog Ichthyosis, ASPRV1-related ASPRV1 missense yes CanFam 3.1 c.1052T>C p.L351P 2017 28249031
OMIA 000194-9913 cattle Holstein-Friesian Citrullinaemia ASS1 nonsense (stop-gain) yes UMD 3.1 11 g.100802781C>T c.256C>T p.R86* 1989 2813370 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001471-9615 dog Standard Poodle Neonatal encephalopathy with seizures ATF2 missense yes CanFam3.1 36 g.19078954T>G c.152T>G p.M51R 2008 18074159 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001954-9615 dog Lagotto Romagnolo Neurodegenerative vacuolar storage disease ATG4D missense yes CanFam3.1 20 g.50618958G>A c.1288G>A p.A430T 2015 25875846 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001552-9615 dog Tibetan Terrier Neuronal ceroid lipofuscinosis, 12 ATP13A2 splicing yes c.1620delG Originally c.1623delG p.P541fs*597 (Farias et al., 2011); revised coordinates from Wöhlke et al. (2011) 2011 21362476 22022275 Katz et al. (2017) Neurobiol Dis. doi: 10.1016/j.nbd.2017.08.017 present the original coordinates rather than the revised ones, with no explanation.
OMIA 001552-9615 dog Australian Cattle Dog Neuronal ceroid lipofuscinosis, 12 ATP13A2 missense yes CanFam3.1 2 g.81,208,162C>T c.1118C>T p.(Thr373Ile) Schmutz et al. (2019): "The ATP13A2 variant was a missense variant, XM_005617949.3:c.1118C > T, predicted to result in a non-conservative exchange of a threonine into an isoleucine, XP_005618006.1:p.(Thr373Ile)" 2019 30956123
OMIA 002110-9615 dog Belgian Shepherd Ataxia, cerebellar, ATP1B2-related ATP1B2 insertion, gross (>20) yes CanFam3.1 5 g.32551064_32551065insLT796559 c.130_131insLT796559.1 "a 227 bp SINE insertion into exon 2 of the ATP1B2 gene" 2017 28620085
OMIA 001450-9913 cattle Belgian Blue Red and White Dutch Congenital muscular dystonia 1 ATP2A1 missense yes UMD3.1 25 g.26191380C>T c.1675C>T p.R559C 2008 18344998 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001464-9913 cattle Romagnola Pseudomyotonia, congenital ATP2A1 missense yes UMD3.1 25 g.26197204G>T c.857G>T p.G286V 2012 23046865 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001464-9913 cattle Romagnola Pseudomyotonia, congenital ATP2A1 missense yes UMD3.1 25 g.26197429G>T c.632G>T p.G211V 2012 23046865 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001464-9913 cattle Chianina Pseudomyotonia, congenital ATP2A1 missense yes UMD3.1 25 g.26198573G>A c.491G > A p.R164H 2008 18786632 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000640-9615 dog Labrador Retriever Menkes disease ATP7A missense yes CanFam3.1 X g.60279238C>T c.980C>T p.T327I 2016 26747866 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001071-9615 dog Labrador Retriever Wilson disease ATP7B missense yes CanFam3.1 22 g.225097G>A c.4358G>A p.R1453Q 2016 26747866 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001645-10036 golden hamster Black tremor Atrn insertion, gross (>20) yes Kuramoto et al. (2002): "an approximately 10-kb DNA fragment, which had 557-bp direct repeats in both ends and was flanked by the identical 6-bp target duplication sequences, [that] was inserted into exon 24" 2002 11773967
OMIA 000487-9796 horse Belgian draft horse Friesian Hydrocephalus B3GALNT2 nonsense (stop-gain) yes EquCab3 1 g.76887901C>T c.1423C>T p.Q475* Ducro et al./ (2015): "The nomenclature for the mutation is c.1423C>T [GenBank:XM_001491545] corresponding to p.Gln475* [GenBank:XP_001491595]". As at 25 April 2019, Ensembl's Variant Effect Predictor (VEP) gives the EquCab3 c. and p. coordinates as having not changed from the EquCab2 coordinates reported by Ducro et al. (2015). The Ensembl ref is ENSECAT00000049072 2015 26452345 c. and p. variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. EquCab3 g. coordinate provided by Meredith O’Connell, working under the supervision of Professor Ernie Bailey, 24 April 2019
OMIA 001885-9940 sheep Lacaune Fecundity, Lacaune, FecL B4GALNT2 regulatory no g.36938224T>A 2013 24086150
OMIA 001885-9940 sheep Lacaune Fecundity, Lacaune, FecL B4GALNT2 regulatory no g.37034573A>G 2013 24086150
OMIA 002068-9796 horse Friesian Dwarfism, Friesian B4GALT7 splicing yes EquCab2 14 g.4535550C>T c.50G>A p.R17K 2016 27793082 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002045-9615 dog Hungarian Puli Bardet-Biedl syndrome 4 BBS4 nonsense (stop-gain) yes CanFam 3.1 30 g.36063748A>T c.58A>T p.K20* 2017 28533336
OMIA 002178-9823 pig Large White Abortion, BBS9-related BBS9 deletion, gross (>20) yes Sscrofa11.1 18 Derks et al. (2018): "a large deletion in complete LD with the SSC18 haplotype of approximately 212kb (position 39,817,373 to 40,029,300), spanning a part of the BBS9 gene" 2018 30231021
OMIA 001592-9615 dog Cavalier King Charles Spaniel Episodic falling BCAN deletion, gross (>20) yes a 15.7kb deletion in the BCAN gene 2012 21821125
OMIA 000627-9913 cattle Polled Hereford Maple syrup urine disease BCKDHA nonsense (stop-gain) yes UMD 3.1 18 g.50828859C>T c.154C>T p.Q52* rs479967962 1990 2303405 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000627-9913 cattle Shorthorn Maple syrup urine disease BCKDHA missense yes UMD3.1 18 g.50837932C>T c.1380C>T p.P372L 1999 10425233 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001079-9986 rabbit Yellow fat BCO2 deletion, small (<=20) yes delAAT 2015 26002694
OMIA 001079-9940 sheep Norwegian White Yellow fat BCO2 nonsense (stop-gain) yes Oar_v3.1 15 g.21947481C>T c.196C>T p.Q66* 2010 20122251 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001079-9913 cattle Holstein Yellow fat BCO2 nonsense (stop-gain) yes UMD3.1 15 g.22877552 c.306G>A p.W102* 2009 19398771 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001573-9615 dog Mixed breed Leukemia, chronic monocytic BCR complex rearrangement yes "Philadelphia chromosome" - a chromosomal translocation that results in chronic leukemia. This translocation involves the gene known as breakpoint cluster region (BCR). 2011 21143615
OMIA 001554-9615 dog Lapponian Herder Multifocal retinopathy 3 BEST1 cmr3 deletion, small (<=20) yes c.1388delC p.Pro463fs 2010 21197113 Variant information and allele abbreviation gleaned from or confirmed by Donner et al. (2016) PLoS One 11:e0161005
OMIA 001553-9615 dog Coton de Tulear Multifocal retinopathy 2 BEST1 cmr2 missense yes c.482G>A p.G161D 2007 17460247
OMIA 001444-9615 dog Boerboel Bull Mastiff English Mastiff Great Pyrenees Multifocal retinopathy 1 BEST1 cmr1 nonsense (stop-gain) yes CanFam3.1 18 g.54478586C>T c.73C>T p.R25* 2007 17460247 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001660-9615 dog Great Dane Myopathy, Great Dane BIN1 splicing yes IVS10-2A>G 2013 23754947
OMIA 002107-9940 sheep Tunisian Barbarine Fecundity, Barbarine, FecX(Bar) BMP15 complex rearrangement no "a composite polymorphism associating a single nucleotide substitution (c.301G > T), a 3 bp deletion (c.302_304delCTA) and a C insertion (c.310insC) in the ovine BMP15 cDNA leading to a frame shift at protein position 101" 2017 28506298
OMIA 001799-9940 sheep Olkuska Fecundity, Olkuska, FecX(O) BMP15 missense no c.1009A>C p.N337H 2013 23637641
OMIA 001719-9940 sheep Belclare Irish Cambridge Fecundity, Belclare, FecX(B) BMP15 missense no c.1100G>T p.S367I 2004 14627550
OMIA 001350-9940 sheep Romney Marsh High fecundity BMP15 nonsense (stop-gain) no c.1184C>T p.Q291* 2004 14627550
OMIA 001800-9940 sheep Rasa Aragonesa Fecundity, Rasa Aragonesa, FecX® BMP15 deletion, small (<=20) no c.525_541del17 p.Pro45Asnfs*54 2008 18355397
OMIA 000384-9940 sheep Irish Cambridge High fecundity BMP15 nonsense (stop-gain) no c.718C>T p.Q239* 2004 14627550
OMIA 001798-9940 sheep Grivette Fecundity, Grivette, FecX(Gr) BMP15 missense no c.950C>T p.T317I 2013 23637641
OMIA 001357-9940 sheep Lacaune Fecundity, Lacaune, FecX(L) BMP15 missense no c.G>A p.C321Y 2007 17038554
OMIA 000386-9940 sheep Romney Marsh Fecundity, Inverdale, FecX(I) BMP15 missense no c.T>A p.V299D 2000 10888873
OMIA 001551-9615 dog Brachycephaly BMP3 missense yes CanFam3.1 32 g.5231894C>A c.1344C>A p. F448L 2012 22876193 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000383-9940 sheep Booroola Fecundity, Booroola, FecB(B) BMPR1B missense no Oar_v3.1 6 g.29382188A>G c.914A>G p.Q305R 2001 11259271 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001512-9615 dog Invasive transitional cell carcinoma of the bladder BRAF missense yes CanFam3.1 16 g.8296284 p.V595E 2015 25767210
OMIA 002132-9615 dog German Shorthair Pointer Abortion (embryonic lethality), BTBD17-related BTBD17 insertion, small (<=20) yes CanFam 3.1 9 g.6048201_6048202insG rs852549625 2017 29053721
OMIA 001991-9913 cattle Nordic Red Stillbirth BTBD9 deletion, gross (>20) yes UMD3.1 23 "∼525 KB deletion on Chr23:12,291,761-12,817,087 (overlapping BTBD9, GLO1 and DNAH8)" 2016 27091210
OMIA 001622-9031 chicken Resistance to avian sarcoma and leukosis viruses, subgroup C BTN1A1 nonsense (stop-gain) no Galgal4 28 g.808011C>A c.165C>A p.C55* rs735807319 2005 16051833 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001575-9615 dog Gordon Setter Irish Setter Miniature Poodle Old Danish Pointing Dog Polski Owczarek Nizinny Polski Owczarek Podhalanski Standard Poodle Tibetan Terrier Rod-cone dysplasia 4 C17H2orf71 insertion, small (<=20) yes c.3149_3150insC 2013 22686255
OMIA 000303-9031 chicken White Leghorn Dwarfism, autosomal C1H12ORF23 nonsense (stop-gain) yes Gallus_gallus-5.0 1 g.53688583C>T c.433G>A p.Trp59∗ Wu et al. (2108): "NM_001006244.1:c.433G > A . . . NP_001006244.1:p.(Trp59∗)" 2018 29930570
OMIA 000155-9615 dog Brittany Spaniel C3 deficiency C3 deletion, small (<=20) yes "a deletion of a cytosine at position 2136 (codon 712), leading to a frameshift that generates a stop codon 11 amino acids downstream" 1998 9510185
OMIA 002201-9913 cattle Normande Abortion due to haplotype NH7 CAD missense yes 11 g.72,399,397T>C p.Tyr452Cys 2019 31056337
OMIA 001820-9615 dog Parson Russell Terrier Ataxia, spinocerebellar CAPN1 missense yes c.344G>A p.C115Y 2013 23741357
OMIA 001138-9615 dog American Foxhound Beagle Hypocatalasia CAT missense yes CanFam3.1 18 g.33397548G>A c.979G>A p.A327T 2000 11137458 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001416-9612 gray wolf Coat colour, dominant black CBD103 K^B deletion, small (<=20) no 3bp deletion of the CBD103 gene 2009 19197024
OMIA 001416-9614 coyote Coat colour, dominant black CBD103 deletion, small (<=20) no 3bp deletion of the CBD103 gene 2009 19197024
OMIA 001416-9615 dog Coat colour, dominant black CBD103 deletion, small (<=20) no CanFam3.1 16 g.58965449_58965451ins>del "a 3-base pair (bp) deletion in the second exon of CBD103, the ortholog of human DEFB103, that predicts an in-frame glycine deletion (ΔG23)" 2007 17947548 Genomic location and other details provided by Professor Claire Wade August 2018.
OMIA 002167-9913 cattle Nordic Red Asthenospermia CCDC189 splicing yes UMD3.1 25 27138357C>T Touru et al. (2019): "ARS-UCD1.2-assembly, the variant is located on Chr25:26880841C>T"; "a variant disrupting a canonical 5’ splice donor site (GCA_000003055.3:Chr25:g.27138357C>T) in CCDC189 (transcript - ID:ENSBTAT00000045037) encoding the coiled-coil domain containing protein 189." 2019 30975085
OMIA 001540-9615 dog Old English Sheepdog Ciliary dyskinesia, primary CCDC39 nonsense (stop-gain) yes CanFam3.1 34 g.13952270C>T c.286C>T p.R96* 2011 21131972 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001521-9615 dog Schapendoes Generalized PRA CCDC66 insertion, small (<=20) yes 20 "a 1-bp insertion in exon 6 leading to a stop codon" 2010 19777273
OMIA 001752-9823 pig Resistance to PRRS virus CD163 deletion, gross (>20) no Burkhard et al (2018): "the deletion of exon 7 of CD163 using CRISPR/Cas9 editing" 2018 29925651
OMIA 001299-9031 chicken Resistance to avian sarcoma and leukosis viruses, subgroup A CD320 missense no c.120C>G p.C40W 2004 15564460
OMIA 001299-9031 chicken Resistance to avian sarcoma and leukosis viruses, subgroup A CD320 tva^r2 insertion, small (<=20) no c.48insCTCG 2004 15564460
OMIA 001299-9031 chicken Resistance to avian sarcoma and leukosis viruses, subgroup A CD320 deletion, small (<=20) no c.502_511delCGCTCACCCC 2015 25873518
OMIA 001299-9031 chicken Resistance to avian sarcoma and leukosis viruses, subgroup A CD320 deletion, small (<=20) no c.502_516delCGCTCACCCCGCCCC 2015 25873518
OMIA 001299-9031 chicken Resistance to avian sarcoma and leukosis viruses, subgroup A CD320 splicing no c.506-515del10 2012 22171251
OMIA 001299-9031 chicken Resistance to avian sarcoma and leukosis viruses, subgroup A CD320 splicing no c.507-511del5 2012 22171251
OMIA 000102-9031 chicken Sex-linked extreme dilution CDKN2A B0 complex rearrangement no Z The B0 allele is characterised by two non-coding variants: "The first, SNP1, is within the CDKN2A (ARF) promoter region, 265 bp upstream of the transcription start site (according to GenBank AY138245), and the second, SNP2, is located at nucleotide position 385 bp in CDKN2A intron 1" 2010 20374521
OMIA 000102-9031 chicken Sex-linked dilution CDKN2A B2 missense no Gallus_gallus-5.0 Z g.78636802 c.28C>T p.R10C 2010 20374521 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000102-9031 chicken Sex-linked barring CDKN2A B1 missense no Gallus_gallus-5.0 Z g.78636804 c.26T>A p.V9D 2010 20374521 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001890-198806 Male body size/courtship behaviour CENPN inversion unknown "a 4.5Mb inversion on the ruff orthologue of chicken chromosomr GGA11 which, due to the well-known lethality of recombinants within an inversion, has created a supergene determining male breeding behaviour, body size and plumage colour" 2016 26569123
OMIA 001830-9913 cattle Holstein Abortion due to haplotype HH7 CENPU deletion, small (<=20) yes UMD3.1 27 g.14168128delTACT 2018 Reference not in PubMed; see OMIA 001830-9913 for reference details
OMIA 001502-9913 cattle Montbeliarde Caprine-like Generalized Hypoplasia Syndrome CEP250 nonsense (stop-gain) yes UMD3.1 13 g.65369074C>T c.493C>T p.Q165* 2015 25902731 Coordinates obtained from and/or confirmed by EBI's VEP
OMIA 001244-9685 domestic cat Retinal degeneration II CEP290 splicing yes IVS50 + 9T>G 2007 17507457
OMIA 000636-9823 pig Membranoproliferative glomerulonephritis type II CFH missense yes c.3610T>G p.I1166R 2002 12466119
OMIA 002072-9615 dog Old Danish Pointing Dog Myasthenic syndrome, congenital CHAT missense yes 28 g.1484906G>A c.??G>A p.V29M 2007 17586598 20181218 Thanks to Maarten de Groot for advising FN of the genomic location of this variant.
OMIA 002125-9913 cattle Montbeliarde Neurocristopathy CHD7 deletion, small (<=20) yes UMD3.1 14 g.28085731_28085735del p.K594AfsX29 2017 28904385
OMIA 002022-9913 cattle Red Danish Arthrogryposis multiplex congenita, CHRNB1-related CHRNB1 deletion, small (<=20) yes c.55delG p.Ala19Profs47* 2016 27364156
OMIA 000685-9615 dog Jack Russell Terrier Myasthenic syndrome, congenital, due to CHRNE CHRNE insertion, small (<=20) yes c.633_634insC p.Gly212Argfs*274 2015 26429099
OMIA 000685-9615 dog Heideterrier Myasthenic syndrome, congenital, due to CHRNE CHRNE insertion, small (<=20) yes CanFam3.1 5 g.31707450_31707451insG c.1436_1437insG p.Ser479ArgfsTer14 2017 28508416
OMIA 000685-9913 cattle Brahman Myasthenic syndrome, congenital, CHRNE-related CHRNE deletion, small (<=20) yes UMD3.1 19 g.27119615 c.448_467del 2002 12481987 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000698-9940 sheep Rasa Aragonesa Myotonia CLCN1 missense yes p.Q93K 2015 25744800
OMIA 000698-9796 horse New Forest Pony Myotonia CLCN1 missense yes c.1775A>C p.D592A 2012 22197188
OMIA 000698-9615 dog Australian Cattle Dog Myotonia CLCN1 insertion, small (<=20) yes c.2665insA p.Arg889fs) 2007 17552451 Variant information gleaned from or confirmed by Donner et al. (2016) PLoS One 11:e0161005
OMIA 000698-89462 water buffalo Myotonia CLCN1 splicing yes c.396C>T 2013 23339992
OMIA 000698-9925 goat Myotonia CLCN1 missense yes G>C 1996 8855341
OMIA 000698-9615 dog Labrador Retriever Myotonia congenita CLCN1 nonsense (stop-gain) yes CanFam3.1 16 g.6348929T>A c.2275A>T p.R759X Quitt et al. (2018): "Chr16:6348929 T A CLCN1 ENSCAFG00000003619.3 stopgain" 2018 29934119
OMIA 000698-9615 dog Miniature Schnauzer Myotonia CLCN1 missense yes CanFam3.1 16 g.6366383C>T c.803C>T p.T268M 1999 10452529 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000698-9685 domestic cat Myotonia CLCN1 splicing yes Felis_catus_6.2 A2 g.157306905G>T c.1930+1G>T 2014 25356766 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001887-9913 cattle Belgian Blue Osteopetrosis with gingival hamartomas CLCN7 missense yes c2248T>C + c2250C>A p. Y750Q 2014 24159188
OMIA 001135-9913 cattle Japanese Black Renal dysplasia CLDN16 Type 1 deletion, gross (>20) yes 37kb deletion of exons 1-4 2000 10810088
OMIA 001135-9913 cattle Japanese Black Renal dysplasia CLDN16 Type 2 deletion, gross (>20) yes UMD3.1 1 g.77528017_? "a 56-kb deletion that eliminates exons 1-4 and 21-bp of exon 5" 2002 12047224 Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001482-9940 sheep Borderdale Neuronal ceroid lipofuscinosis, 5 CLN5 splicing yes c.571+1G>A 2008 17988881
OMIA 001482-9615 dog Golden Retriever Neuronal ceroid lipofuscinosis, 5 CLN5 deletion, small (<=20) yes c.934_935delAG p.E312Vfs*6 2015 25934231 Breed information obtained from Katz et al. (2017) Neurobiol Dis. doi: 10.1016/j.nbd.2017.08.017
OMIA 001482-9615 dog Australian Cattle Dog Border Collie Neuronal ceroid lipofuscinosis, 5 CLN5 nonsense (stop-gain) yes CanFam3.1 22 g.305746C>T c.619C>T p.Q207* 2005 16033706 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001482-9913 cattle Devon Neuronal ceroid lipofuscinosis, 5 CLN5 insertion, small (<=20) yes UMD3.1 12 g.52461241insG c.662insG p.Arg221GlyfsX6 2006 16935476 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001443-9940 sheep South Hampshire Neuronal ceroid lipofuscinosis CLN6 deletion, gross (>20) yes deletion of exon 1 2013 23338040
OMIA 001443-9940 sheep Merino Neuronal ceroid lipofuscinosis, 6 CLN6 missense yes c.184C>T p.R62C 2006 17046213
OMIA 001443-9615 dog Australian Shepherd Neuronal ceroid lipofuscinosis, 6 CLN6 missense yes CanFam3.1 30 g.32247875 c.829T>C p.W277R 2011 21234413 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001962-9542 Japanese macaque Neuronal ceroid lipofuscinosis, 7 CLN7 deletion, small (<=20) yes 4 c.769delA p.Ile257LeufsTer36 2018 30048804
OMIA 001506-9615 dog Alpenländische Dachsbracke Neuronal ceroid lipofuscinosis, 8 CLN8 deletion, gross (>20) yes CanFam3.1 37 g.30852988_30902901del a homozygous deletion encompassing the entire CLN8 gene 2017 28024876 g. information obtained from Katz et al. (2017) Neurobiol Dis. doi: 10.1016/j.nbd.2017.08.017
OMIA 001506-9615 dog Saluki Neuronal ceroid lipofuscinosis, 8 CLN8 insertion, small (<=20) yes CanFam3.1 37 g.30874636dupT c.349dupT p.Glu117* "an insertion of 1 bp (T) in the CLN8 gene (Fig. S2) in a short T repeat, thereby changing the stretch of 9 T's to a stretch consisting of 10 T's. The exact position of the inserted base could obviously not be verified, given that this was an insertion of a single base in a stretch of nine repeats of the same base (CFA37:g.30874628–30874636). According to the recommended nomenclature, the T insertion was noted as a T duplication in the T farthest in the 3′ direction (g.30874636dupT; c.349dupT)" 2018 29446145
OMIA 001506-9615 dog English Setter Neuronal ceroid lipofuscinosis, 8 CLN8 missense yes CanFam3.1 37 g.30874779T>C c.491T>C p.L164P 2005 15629147 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001506-9615 dog Australian Shepherd Neuronal ceroid lipofuscinosis, 8 CLN8 nonsense (stop-gain) yes CanFam3.1 37 g.30883950G>A c.585G>A p.W195* 2014 24953404 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000119-9685 domestic cat Blood group system AB CMAH regulatory no "an indel in the exon 1 5' UTR" 2007 17553163
OMIA 000119-9685 domestic cat Blood group system AB CMAH regulatory no "2 SNPs upstream of the start" 2007 17553163
OMIA 000119-9685 domestic cat Blood group system AB CMAH indel, small (<=20) no an indel in the exon 1 5' UTR 2007 17553163
OMIA 000119-9685 domestic cat 2019 TYPING PANEL CMAH missense no c.179G>T p.G60V 2016 27755584
OMIA 000119-9685 domestic cat Blood group system AB CMAH missense no c.187A>G p.I63V 2016 27755584
OMIA 000119-9685 domestic cat 2019 TYPING PANEL CMAH missense no c.364C>T p.P122S 2016 27171395
OMIA 000119-9685 domestic cat 2019 TYPING PANEL CMAH deletion, small (<=20) no Felis_catus_6.2 c.1322delT p.Leu441* 2018 30235335
OMIA 000119-9685 domestic cat Blood group system AB CMAH missense no Felis_catus_6.2 B2 g.4587414G>A c.139G>A p.V47M 2007 17553163 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000119-9685 domestic cat 2019 TYPING PANEL CMAH missense no Felis_catus_6.2 B2 g.4590792T>A c.268T>A p.Y89N The original (2007) designation of the c. coordinate was c.265T>A. The revised designation of c.268T>A is taken from Kehl et al. (2019) 2007 17553163 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000119-9685 domestic cat Blood group system AB CMAH missense no Felis_catus_6.2 B2 g.4637820G>A c.1600G>A p.D534N 2007 17553163 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001977-9615 dog Shetland Sheepdog Progressive retinal atrophy, due to CNGA1 mutations CNGA1 deletion, small (<=20) yes c.1752_1755delAACT 2015 26202106
OMIA 001481-9615 dog German Shepherd Dog Achromatopsia-2 CNGA3 missense yes c.1270C>T p.R424W 2015 26407004
OMIA 001481-9615 dog Labrador Retriever Achromatopsia-2 CNGA3 deletion, small (<=20) yes c.1931_1933delTGG p.V644del 2015 26407004
OMIA 001481-9940 sheep Awassi Achromatopsia-2 (day blindness) CNGA3 missense yes Oar_v4.0 3 g.102,602,387G>A c.1618G>A p.Gly540Ser 2017 28282490 Genomic coordinate kindly provided by Eyal Seroussi via Elisha Gootwine
OMIA 001481-9940 sheep Awassi Achromatopsia-2 (day blindness) CNGA3 nonsense (stop-gain) yes Oori1 scaffold00739 3 g.263,324 c.706C>T p.R236* In a pers. comm. to FN via Elisha Gootwine, Eyal Seroussi advises that the Oar_v4.0 assembly has errors in the region of of this mutation, such that it cannot be mapped onto that assembly. It can, however, be mapped on to the Ovis aries musimon sequence: "Exon 8 mutation is at position 263,324 in Ovis aries musimon unplaced genomic scaffold, alternate assembly Oori1 scaffold00739 (Sequence ID: NW_011942977.1 Length: 1056687)" 2010 19874885
OMIA 000830-9615 dog Papillon Phalène Progressive retinal atrophy CNGB1 indel, small (<=20) yes 2 c.2685delA2687_2688insTAGCTA p.Tyr889Serfs*5 2013 24015210
OMIA 001365-9615 dog Alaskan Malamute Miniature Australian shepherd Achromatopsia (cone degeneration, hemeralopia), AMAL CNGB3 deletion, gross (>20) yes "deletion removing all exons of canine CNGB3" 2002 12140185
OMIA 001676-9615 dog German Shorthair Pointer Achromatopsia (cone degeneration, hemeralopia), GSPT CNGB3 missense yes CanFam3.1 19 g.32837065G>A c.784G>A p.D262N 2002 12140185 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001718-9823 pig Dwarfism, Schmid metaphyseal chondrodysplasia COL10A1 missense yes c.G>A p.G590R 2000 11130976
OMIA 001772-9615 dog Labrador Retriever Skeletal dysplasia 2 (SD2) COL11A2 missense yes CanFam3.1 12 g.2652874G>C c.143G>C p.R48P 2013 23527306 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000754-9615 dog Golden Retriever Osteogenesis imperfecta COL1A1 missense yes c.1276G>C p.G208A 2000 11147834
OMIA 002126-9615 dog Golden Retriever Osteogenesis imperfecta, type III, COL1A1-related COL1A1 missense yes c.1276G>C p.Gly208Ala 2000 11147834
OMIA 002127-9913 cattle Red Angus Osteogenesis imperfecta, type II, COL1A1-related COL1A1 missense yes ARS-UCD1.2 19 g.36463798G>A c.1063G>A p.Gly355Ser Petersen et al. (2019): "PolyPhen-2 predicted the mutation to be “probably damaging” with a score of 1.000 (sensitivity 0.00; specificity 1.00). Similarly, PROVEAN prediction classified the variant as “Deleterious” with a score of − 4.615, exceeding both the default (− 2.5) and stringent (− 4.1) thresholds for this classification." The genomic coordinate in the UMD3.1 assembly is g.37094333G>A (Petersen et al., 2019). The coding sequence coordinates are c.1063G>A (ENSBTAT00000017420.4) (Petersen, pers. comm.) ss1342331437356 2019 30788588
OMIA 002127-9913 cattle Fleckvieh Osteogenesis imperfecta, type II, COL1A1-related COL1A1 indel, small (<=20) yes UMD3.1 19 g.37101299_37101302delinsT p.A1049_P1050DelInsS 2017 28904385
OMIA 002112-9615 dog Beagle Osteogenesis imperfecta, COL1A2-related COL1A2 indel, small (<=20) yes "a mutation in which nucleotides 3991-3994 ("CTAG") were replaced with "TGTCATTGG." The first seven bases of the inserted sequence were identical to nucleotides 4002-4008 of the normal canine COL1A2 sequence. The resulting frameshift changed 30 amino acids and introduced a premature stop codon." 2001 11393792
OMIA 002112-9615 dog Chow Chow Osteogenesis imperfecta, COL1A2-related COL2A1 splicing yes CanFam2 14 g.22845733G>A c.936+1G>A 2017 29036614
OMIA 001926-9913 cattle Charolais Salers Bulldog calf COL2A1 missense yes UMD3.1 5 g.32469820G>A c.1791G>A p.G600D 2017 28904385 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001926-9913 cattle Holstein Bulldog calf COL2A1 missense yes UMD3.1 5 g.32471813G>A c.2158G>A p.G720S 2017 28904385 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001926-9913 cattle Danish Holstein bulldog calf COL2A1 splicing yes UMD3.1 5 g.32473300G>A c.2463 + 1G>A 2016 27296271 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001926-9913 cattle Holstein Bulldog calf COL2A1 missense yes UMD3.1 g.32475732G>A p.G960R 2014 25017103
OMIA 001926-9913 cattle Holstein Bulldog calf COL2A1 missense yes UMD3.1 5 g.32476082G>A c.2986G>A p.G996S rs876243579 2017 28904385 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001926-9913 cattle Holstein Bulldog calf COL2A1 missense yes UMD3.1 g.32476808G>A c.3166G>A p.Gly1056Ser 2019 30378686
OMIA 000710-9615 dog English Springer Spaniel Nephropathy COL4A4 nonsense (stop-gain) yes c.2806C>T p.Q904* 2012 22369189
OMIA 000710-9615 dog English Cocker Spaniel Nephropathy COL4A4 nonsense (stop-gain) yes CanFam3.1 25 g.39953906A>T c.115A>T p.K39* 2007 17552442 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001112-9615 dog Navasota (mixed breed) Nephritis, X-linked COL4A5 deletion, small (<=20) yes a 10 base pair deletion in exon 9 of COL4A5 2008 18931484
OMIA 001112-9615 dog Samoyed Nephritis, X-linked COL4A5 nonsense (stop-gain) yes CanFam3.1 X g.82196868G>T c.3079G>T p.G1027* 1994 8171024 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002165-9685 domestic cat Domestic Shorthair Ehlers-Danlos syndrome, classic type, 1 COL5A1 deletion, small (<=20) yes FelCat 9.0 D4 g.93210344delC c.3420delG p.Leu1141SerfsTer134 2018 30246406
OMIA 001967-9615 dog Landseer Muscular dystrophy, Ullrich type COL6A1 nonsense (stop-gain) yes c.289C>T p.Q97* 2015 26438297
OMIA 000341-9615 dog Central Asian Shepherd Epidermolysis bullosa, dystrophic COL7A1 nonsense (stop-gain) yes CanFam3.1 20 g.40532043 c.4579C>T p.R1527* 2017 28493971 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000341-9615 dog Golden Retriever Epidermolysis bullosa, dystrophic COL7A1 missense yes CanFam3.1 20 g.40538034G>A c.5716G>A p.G1906S 2003 12874109 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000341-9913 cattle Rotes Höhenvieh Vorderwalder Epidermolysis bullosa, dystrophic COL7A1 nonsense (stop-gain) yes UMD 3.1 22 g. 51873390C>T c.4762C>T p.R1588* rs876174537 2012 22715415 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed and some variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001523-9615 dog Samoyed Oculoskeletal dysplasia 2 COL9A2 deletion, gross (>20) yes a 1,267 bp deletion that eliminates part of the 5’UTR, all of exon 1 and part of intron 1 2010 20686772
OMIA 001522-9615 dog Labrador Retriever Oculoskeletal dysplasia 1 COL9A3 insertion, small (<=20) yes an insertion of a guanine residue in exon 1 in the COL3 domain of COL9A3 2010 20686772
OMIA 001621-9685 domestic cat Devon Rex Sphynx Muscular dystrophy-dystroglycanopathy (limb-girdle) COLQ missense yes Felis_catus_8.0 C2 g.133094150G>A c.1190G>A p.Cys397Tyr rs869320615 2015 26327126 26374066 Genomic location obtained via Ensembl's VEP
OMIA 001988-9615 dog Bedlington Terrier Wilson disease, COMMD1 type COMMD1 deletion, gross (>20) yes 10 deletion "breakpoints were positioned at 65.3091 and 65.3489 Mb of dog chromosome 10, in intron 1 and intron 2 of COMMD1 respectively, a deletion of 39.7 kb" 2005 16293123
OMIA 001529-9913 cattle Holstein Dominant red COPA DR^DR missense no UMD3.1 3 g.9479761C>T c.478C>T p.R160C 2017 28904385 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002159-9694 tiger Golden tiger CORIN missense no c.1759C >T p.H587Y 2017 28281538
OMIA 002111-9913 cattle Red Holstein Friesian Cataract, recessive, CPAMD8-related CPAMD8 nonsense (stop-gain) yes UMD 3.1, AC_000164.1 7 g.5995966C>T c.220C>T p.Gln74* 2017 28683140
OMIA 000881-9685 domestic cat Rod-cone dysplasia CRX Rdy deletion, small (<=20) yes p.A182d1 A single base deletion in the cone-rod homeobox-containing gene (CRX). p coordinates obtained from Occelli et al. (2016). 2010 20053974
OMIA 000852-9925 goat Casein, alpha-S1, reduced concentration CSN1S1 insertion, gross (>20) yes "a 457-bp insertion within exon 19 (last untranslated exon). This insert is a truncated long interspersed repeated element (LINE) containing part of the ORF-2, the 3' UTR and the poly(A) tail of the original retroposon." 1994 7926797
OMIA 001623-9925 goat Casein, alpha-S2, absence CSN1S2 nonsense (stop-gain) yes c.763G>A p.T110* 2001 11419340
OMIA 002033-9913 cattle Numerous breeds A2 milk CSN2 A2 missense no UMD3.1 6 g.87181619A>C c.245A>C p.H82P Note that cattle cannot be genotyped for the A2 allele solely on the basis of the c.245A>C variant because this variant is common to 4 other alleles; see Table 2 of Caroli et al. (2009) J. Dairy Sci. 92, 5335-5352 (Matt McClure, pers. comm.) rs43703011 2013 23102962 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001505-9615 dog American Bulldog Neuronal ceroid lipofuscinosis, 10 CTSD missense yes CanFam3.1 18 g.46013354G>A c.597G>A p.M199I 2006 16386934 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001786-9615 dog Beagle Intestinal cobalamin malabsorption due to CUBN mutation CUBN deletion, small (<=20) yes CanFam 3.1 2 g.19796293delC c.786delC p.Asp262Glufs*47 2014 24164695
OMIA 001786-9615 dog Komondor Intestinal cobalamin malabsorption, CUBN-related CUBN splicing yes CanFam 3.1 2 g.19981457 c.8746 + 1G>A Fyfe et al. (2018): NM_001003148.1: c.8746 + 1G > A 2018 30591068
OMIA 001786-9615 dog Border Collie Intestinal cobalamin malabsorption due to CUBN mutation CUBN deletion, small (<=20) yes CanFam3.1 2 g.19974334delC c.8392delC p.Gln2798Argfs*3 2013 23613799
OMIA 001697-9913 cattle Jersey Abortion due to haplotype JH1 CWC15 nonsense (stop-gain) yes UMD 3.1 15 g.15707169C>T c.163C>T p.R55* 2013 23349982 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 002131-9615 dog Pomeranian Methemoglobinaemia, CYB5R3-related CYB5R3 missense yes CanFam3.1 c.580A>C p.Ile194Leu 2018 29356095
OMIA 002131-9615 dog Mixed breed Methemoglobinaemia, CYB5R3-related CYB5R3 missense yes CanFam3.1 10 g.22832963G>A c.214G>A p.Gly72Ser 2017 28963729 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000017-9986 rabbit Adrenal hyperplasia, congenital CYP11A1 deletion, gross (>20) yes "a large deletion mutation in the P450scc gene" 1993 7682938
OMIA 001661-9685 domestic cat Adrenal hyperplasia, congenital, due to 11-beta hydroxylase deficiency CYP11B1 missense yes G>A 2012 22827537
OMIA 000452-9031 chicken Golden Campine Sebright Bantam Henny feathering CYP19A1 insertion, gross (>20) no the terminal repeat sequence of a retrovirus that has been inserted into the 5' promoter region of the aromatase gene. 1991 1939054
OMIA 001405-9615 dog Beagle Metabolizer of a cognitive enhancer CYP1A2 nonsense (stop-gain) yes CanFam3.1 30 g.37821686 c.1117C>T p. R373* rs852922442 2004 15564884 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000837-9823 pig Vitamin D-deficiency rickets, type I CYP27B1 deletion, gross (>20) yes the first of two deletions (173 bp or 329 bp) in the gene for cytochromome P450C1 (otherwise known as CYP27B1) 2003 12915218
OMIA 000837-9823 pig Vitamin D-deficiency rickets, type I CYP27B1 deletion, gross (>20) yes the second of two deletions (173 bp or 329 bp) in the gene for cytochromome P450C1 (otherwise known as CYP27B1) 2003 12915218
OMIA 000837-9685 domestic cat Vitamin D-deficiency rickets, type I CYP27B1 deletion, small (<=20) yes c.731delG 2009 19138382
OMIA 000837-9685 domestic cat Vitamin D-deficiency rickets, type I CYP27B1 nonsense (stop-gain) yes Felis_catus_6.2 B4 g.86472505G>T c.637G>T p. E213* 2012 22553308 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001130-9615 dog Australian Cattle Dog Shetland Sheepdog Leucodystrophy CYTB missense yes CanFam3.1 M m.14474G>A c.14474G>A p.V98M 2006 16026996 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001986-9823 pig Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation DCLRE1C splicing yes Sscrofa 10.2 10 g.51578763G>A 2015 26320255
OMIA 001986-9823 pig Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation DCLRE1C nonsense (stop-gain) yes Sscrofa 10.2 10 g.51584489G>A p.Trp267* 2015 26320255
OMIA 000735-9796 horse Belgian Haflinger Percheron Ocular squamous cell carcinoma DDB2 missense yes EquCab3 12 g.11726667C>T The EquCab2 coordinates, obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool, are g.11608667, c.1013C>T and p.T338M rs1139682898 2017 28425625 The EquCab3 g. coordinates were provided by by Meredith O’Connell, working under the guidance of Professor Ernie Bailey, 5 March 2019
OMIA 002095-9615 dog Rhodesian Ridgeback Epilepsy, generalized myoclonic, with photosensitivity DIRAS1 deletion, small (<=20) yes CanFam3.1 c.564_567delAGAC 2017 28223533
OMIA 001354-9940 sheep Rambouillet Muscular hypertrophy (double muscling), Callipyge DLK1 regulatory AF354168 103,894A>G "the CLPG mutation, an A to G transition in a highly conserved dodecamer motif located in the 90-Kb intergenic region separating the Delta-like 1 homologue (DLK1) and Gene trap locus 2 (GTL2) genes in the eponymous imprinted domain" (Xu et al., 2015; PubMed 26474044) 2002 12368241
OMIA 002109-9913 cattle Brown Swiss Tricho-dento-osseous-like syndrome DLX3 insertion, small (<=20) yes NM_001081622 19 g.37298375_37298376insGGAGCACA c.584_585insGGAGCACAGG p.Ser198ArgfsTer99 2017 28670783
OMIA 001919-9615 dog Nova Scotia Duck Tolling retriever Cleft palate 1 DLX6 insertion, gross (>20) yes CanFam2.0 14 "2056 bp [LINE-1] insertion . . . within a highly conserved region of DLX6 intron 2 at cfa14.25016716 2014 24699068
OMIA 001081-9615 dog Golden Retriever Muscular dystrophy, Duchenne type DMD splicing yes a point mutation in the consensus splice acceptor site in exon 6 of the dystrophin gene, such that exon 7 is skipped 1992 1577476
OMIA 001081-9615 dog Cavalier King Charles Spaniel Muscular dystrophy, Duchenne type DMD splicing yes "a missense mutation in the 5' donor splice site of exon 50 that results in deletion of exon 50 in mRNA transcripts and a predicted premature truncation of the translated protein" 2010 20072625
OMIA 001081-9615 dog Cocker Spaniel Muscular dystrophy, Duchenne type DMD deletion, small (<=20) yes deletion of four nucleotides in exon 65, with a reading frame shift predicting a premature stop codon at the site of the deletion 2012 22218699
OMIA 001081-9615 dog German Shorthair Pointer Muscular dystrophy, Duchenne type DMD deletion, gross (>20) yes a "deletion encompassing the entire dystrophin [DMD] gene" 1999 10407848
OMIA 001081-9615 dog Tibetan Terrier Muscular dystrophy, Duchenne type DMD deletion, gross (>20) yes "a large deletion of exons 8-29" 2012 22218699
OMIA 001081-9615 dog Pembroke Welsh Corgi Muscular dystrophy, Duchenne type DMD insertion, gross (>20) yes "a long interspersed repetitive element-1 (LINE-1) insertion in intron 13, which introduced a new exon containing an in-frame stop codon" 2011 20714321
OMIA 001081-9615 dog Labrador Retriever Muscular dystrophy, Duchenne type DMD insertion, gross (>20) yes "184 nucleotide [pseudoexon] insertion between exon 19 and exon 20, which results in a premature stop codon at the next codon downstream of the insertion" 2012 22218699
OMIA 001081-9615 dog Japanese Spitz Muscular dystrophy, Duchenne type DMD inversion yes "an inversion of a 5.4-Mb fragment of the X chromosome, with one break point (BP1) in the DMD gene . . . and a second break point (BP2) in a gene farther toward the centromere, the RPGR gene". 2015 25644216
OMIA 001081-9685 domestic cat Muscular dystrophy, Duchenne type DMD deletion, gross (>20) yes A deletion of the muscle promoter and first exon and the Purkinje neuronal first exon of the DMD gene 1994 7881288
OMIA 001081-9685 domestic cat Domestic shorthair Muscular dystrophy, Duchenne type DMD deletion, gross (>20) yes A large deletion that "involved regions of the dystrophin gene that are poorly characterized, including the cortical neuronal promoter and its first exon and the skeletal neuronal promoter and its first exon" 2014 24446404
OMIA 001081-9615 dog Rottweiler Muscular dystrophy, Duchenne type DMD nonsense (stop-gain) yes "nonsense mutation in exon 58" 1994 Reference not in PubMed; see OMIA 001081-9615 for reference details
OMIA 001081-9615 dog Miniature Poodle Muscular dystrophy, Duchenne type DMD deletion, gross (>20) yes X "a >5 Mb deletion on the X chromosome, encompassing the entire DMD gene" 2018 29474464
OMIA 001081-9615 dog Cavalier King Charles Spaniel Muscular dystrophy, Duchenne type DMD deletion, small (<=20) yes c.6051_6057delTCTCAAT 2016 28028563
OMIA 001685-9823 pig Stress syndrome DMD missense yes c.C>T p.R1958W 2012 22691118
OMIA 001081-9615 dog Norfolk terrier Muscular dystrophy, Duchenne type DMD deletion, small (<=20) yes CanFam3 X g.27606021delG c.3084delG p.Gly1029AspfsX30 2015 26401335
OMIA 001542-9940 sheep Corriedale Hypophosphatemic rickets, autosomal recessive, 1 DMP1 nonsense (stop-gain) yes c.250C>T p.R145* 2011 21747952
OMIA 001466-9615 dog Chesapeake Bay Retriever Curly-coated retriever Labrador Retriever Exercise-induced collapse DNM1 missense yes CanFam3.1 9 g.55282762G>T c.767G>T p.R256L 2008 18806795 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001776-9685 domestic cat Dihydropyrimidinase deficiency DPYS missense yes c.1303G>A p.G435R 2012 23430934
OMIA 002186-9615 dog Boston Terrier Bulldog French Bulldog Screw tail DVL2 deletion, small (<=20) yes CanFam3 5 g.32195043_32195044del c.2044delC p.Pro684LeufsX26 2018 30521570
OMIA 000543-9913 cattle Holstein Anhidrotic ectodermal dysplasia EDA deletion, small (<=20) yes "a 19 bp deletion in exon 1" 2011 21410470
OMIA 000543-9913 cattle Japanese Black Anhidrotic ectodermal dysplasia EDA insertion, small (<=20) yes c.280_281insAGGG 2012 22497423
OMIA 000543-9615 dog German Shepherd Dog Anhidrotic ectodermal dysplasia EDA splicing yes c.910-1G>A 2005 16151697
OMIA 000543-9615 dog Dachshund X-linked hypohidrotic ectodermal dysplasia EDA deletion, small (<=20) yes CanFam 3.1 X g.54509504delT c.842delT p.Leu281HisfsTer22 2018 30276836
OMIA 000543-9913 cattle Danish Holstein Anhidrotic ectodermal dysplasia EDA insertion, gross (>20) yes UMD3.1 13 g.64234645_64255988del6576ins8 c.1-21344del6576ins8402 "a LINE1-derived pseudoexon between EDA exons 1 and 2. The 161-bp-long pseudoexon introduces a shift in reading frame and a premature stop codon early in EDA exon 2" 2011 22034998 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000543-9913 cattle German Holstein Anhidrotic ectodermal dysplasia EDA splicing yes UMD3.1 X g.85710147G>T c.924+2G>T IVS8 +2T>G 2002 12021844 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000543-9913 cattle German Holstein Anhidrotic ectodermal dysplasia EDA deletion, gross (>20) yes UMD3.1 X g.85821470 c.397_502de a large deletion including exon 3 in the gene for ectodysplasin (ED1; now called EDA) 2001 11591646 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001695-8090 Japanese medaka Reduced scale-3 edar insertion, gross (>20) yes "several kb of extra sequence in the 5' UTR that . . . contains out-of-frame start codons and stop codons, [and consequently] the mutant transcript is likely to result in premature initiation and termination of translation and, as a result, the EDAR protein is not synthesized" 2001 11516953
OMIA 002128-9913 cattle Charolais Anhidrotic ectodermal dysplasia, EDAR-related EDAR insertion, small (<=20) yes UMD3.1 11 g.44462236_44462237insC p.P161RfsX97 2017 28904385
OMIA 001671-9031 chicken Ayam Cemani Black H'Mong Silky/Silkie Svarthöna (ohuslän-Dals Svarthöna) Silky/Silkie pigmentation (Fibromelanosis) EDN3 FM complex rearrangement no the FM mutation actually involves "the duplication of two genomic regions, each larger than 100 kb and separated by 417 kb on wild-type [GGA20] chromosomes" 2011 22216010
OMIA 002164-9925 goat Coat colour, white spotting, EDNRA-related EDNRA repeat variation no "a 1Mb copy number variant (CNV) harboring 5 genes including EDNRA. The analysis of 358 Boer goats revealed 3 alleles with one, two, and three copies of this CNV. The copy number is correlated with the degree of white spotting in goats" 2016 27329507
OMIA 001765-9940 sheep Cameroon Waardenburg syndrome, type 4A EDNRB deletion, gross (>20) yes 10 "a deletion of about 110 kb on sheep chromosome [OVA]10, comprising the entire EDNRB gene" 2012 23300849
OMIA 000629-9796 horse American Paint Horse Miniature Horse Pinto Horse Quarter Horse Thoroughbred Megacolon EDNRB frame overo missense yes EquCab2 17 g.50624658 c.353-354TC>AG p. I118K 1998 9530628 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 001904-9031 chicken Feather colour, mottling EDNRB2 missense no c.1008G>T p.C244F 2014 24466053
OMIA 001904-9031 chicken Feather colour, mottling EDNRB2 missense no c.1272G>A p.R332H 2014 24466053
OMIA 000375-93934 Japanese quail Feather colour, panda/dotted white EDNRB2 missense no c.995G>A p.R332H 2007 17313575
OMIA 001805-9615 dog Italian Greyhound Amelogenesis imperfecta ENAM deletion, small (<=20) yes c.1991_1995delTTTCC p.Phe665Argfs*3 2013 23638899
OMIA 001805-9615 dog Parson Russell Terrier Amelogenesis imperfecta ENAM missense yes CanFam3.1 13 c.716C>T p.Pro239Leu 2019 30877375
OMIA 000296-9031 chicken Duplex comb EOMES duplication no "a 20 Kb tandem duplication containing several conserved putative regulatory elements located 200 Kb upstream of the eomesodermin gene (EOMES)" 2015 25789773
OMIA 000240-8932 rock pigeon Crest EPHB2 missense no p.R758C 2013 23371554
OMIA 001716-9913 cattle Holstein Ehlers-Danlos syndrome, Holstein variant EPYC missense yes UMD3.1 5 g.20922527 c.258G>T p.S87N 1999 10357109 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000187-9913 cattle Japanese Brown Chondrodysplasia EVC2 splicing yes c.1356C>T 2002 12136126
OMIA 000187-9913 cattle Japanese Brown Chondrodysplasia EVC2 indel, small (<=20) yes c.2054_2055delCAinsG 2002 12136126
OMIA 000187-9913 cattle Tyrolean Grey Chondrodysplasia EVC2 deletion, small (<=20) yes c.2993delAC p.Asp998GlufsTer13 2014 24733244
OMIA 002042-9913 cattle Belgian Blue Abortion (embryonic lethality), EXOSC4 EXOSC4 nonsense (stop-gain) yes UMD3.1 14 g.1947890G>A c.190G>A p.R64* 2016 27646536 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001214-9615 dog American Staffordshire terrier Osteochondromatosis EXT2 nonsense (stop-gain) yes CanFam3 18 g.5101754C>A c.969C>A p.Tyr323* 2018 29485212
OMIA 000363-9615 dog Kerry Blue Terrier Factor XI deficiency F11 insertion, gross (>20) yes "a short interspersed nucleotide element (SINE) insertion" 2006 Reference not in PubMed; see OMIA 000363-9615 for reference details
OMIA 000363-9913 cattle Japanese Black Factor XI deficiency F11 insertion, small (<=20) yes UMD3.1 27 g.15362363C>ATATGTGCAGAATATA c.870insC>ATATGTGCAGAATATA p.Phe290LeuTyrValGlnAsnIle "an insertion of 15 nucleotides in exon 9" 2005 16104386 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000363-9913 cattle Holstein Sahiwal Factor XI deficiency F11 insertion, gross (>20) yes UMD3.1 27 g.15367048 c.1406ins76 a 76-bp insertion in exon 12 of the Factor XI gene 2004 15566468 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000364-9685 domestic cat Factor XII deficiency F12 deletion, small (<=20) yes c.1321delC p.C441fsX119 2015 24793828
OMIA 000364-9685 domestic cat Domestic shorthair Factor XII deficiency F12 missense yes Felis_catus_6.2 A1 g.173159981G>C c.1631G>C p.G544A 2017 28392508 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000361-9783 Asiatic elephant Factor VII deficiency F7 missense yes c.202A>G p.R68G 2017 28118558
OMIA 000361-9615 dog Beagle Factor VII deficiency F7 missense yes CanFam3.1 22 g.60578895 c.407G>A p.Gly136Glu 2006 16961583 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000437-9615 dog Irish Setter Miniature Schnauzer Haemophilia A F8 splicing yes intronic inversion that results in "aberrant splicing and premature termination" 2002 12008949
OMIA 000437-9615 dog Boxer Haemophilia A F8 missense yes c.1412C>G p.P471R 2014 25040606
OMIA 000437-9615 dog German Shepherd Dog Haemophilia A F8 missense yes c.1643G>A p.C548Y 2014 25040606
OMIA 000437-9940 sheep Swiss Alpine Haemophilia A F8 indel, small (<=20) yes c.3107del10ins11 2010 19943872
OMIA 000437-9615 dog Old English Sheepdog Haemophilia A F8 nonsense (stop-gain) yes CanFam3.1 X g.122973422C>T c.1786C>T p.R596* 2016 27780008 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000437-9615 dog German Shepherd Dog Haemophilia A F8 nonsense (stop-gain) yes CanFam3.1 X g.123043081G>A c.98G>A p.W33* 2011 21949058 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000437-9913 cattle German Fleckvieh Haemophilia A F8 missense yes UMD3.1 X g.38842314A>T p.His45Leu ss213751737 2018 29774585
OMIA 000437-9913 cattle Japanese Brown Haemophilia A F8 missense yes UMD3.1 X g.38971744T>A c.6458T>A p.L2153H 2009 19456318 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000438-9615 dog Lhasa Apso Haemophilia B F9 deletion, small (<=20) yes X "a deletion including nucleotides 772-776 and a C-->T transition at nucleotide 777" 1996 8896410
OMIA 000438-9615 dog Labrador Retriever Haemophilia B F9 deletion, gross (>20) yes X a deletion of the entire gene 1997 9394892
OMIA 000438-9615 dog Airedale Terrier Haemophilia B F9 deletion, gross (>20) yes X a deletion "spanning the entire 5' region of the factor IX gene extending to exon 6" 1999 10544912
OMIA 000438-9615 dog Airedale Terrier Haemophilia B F9 insertion, gross (>20) yes X "An approximately 5 kb insertion disrupted exon 8 of the second breed-variant. This insertion was associated with alternative splicing between a donor site 5' and acceptor site 3' to the normal exon 8 splice junction, with introduction of a new stop codon. The resultant transcript lacked most of the factor IX catalytic domain and 3' untranslated region." 1999 10544912
OMIA 000438-9685 domestic cat Haemophilia B F9 nonsense (stop-gain) yes c.??C>T p.R338* 2005 15822564
OMIA 000438-9685 domestic cat Domestic Longhair Haemophilia B F9 missense yes c.??G>A p.C82Y 2005 15822564
OMIA 000438-9615 dog Hovawart Haemophilia B F9 regulatory yes CanFam3.1 X g.109501492delC Brenig et al. (2019): NC_006621.3:g.109501492delC; "The deletion is located 73 bp upstream of the F9 start codon in the conserved overlapping DNA binding sites of hepatocyte nuclear factor 4α and androgen receptor." 2019 30846504
OMIA 000438-9615 dog German Wirehaired Pointer Haemophilia B F9 insertion, gross (>20) yes CanFam3.1 X g.109521130ins A 1.5kb LINE1 insertion in exon 5. g coordinate of insertion obtained from Brenig et al. (2019) 2003 14722728
OMIA 000438-9615 dog Rhodesian Ridgeback Haemophilia B F9 missense yes CanFam3.1 X g.109530847G>A c.731G>A p.G244E 2011 20303304 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000438-9615 dog Cairn Terrier Haemophilia B F9 missense yes CanFam3.1 X g.109532018G>A c.1477G>A p.Gly418Glu Updated g. and p. coordinates obtained from Brenig et al. (2019) 1989 2481310
OMIA 002032-9615 dog Border Collie Mixed breed Neuropathy, sensory FAM134B inversion yes "6.47 Mb inversion was identified with breakpoints in intron 3 of FAM134B (chr4:86,910,352) and in an upstream intergenic region (chr4:80,439,639" 2016 27527794
OMIA 001918-9615 dog Tibetan spaniel Tibetan Terrier Progressive retinal atrophy, type 3, FAM161A-related FAM161A insertion, gross (>20) yes CanFam2.0 10 g.64974130 A ~230bp insertion containing a 132bp short interspersed nuclear element (SINE), near the splice acceptor site of exon 5 2014 24705771
OMIA 002015-9615 dog Border Collie Dental hypomineralization FAM20C missense yes CanFam3.1 6 g.16452327C>T c.899C>T p.A300V 2016 27187611 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001327-9615 dog Irish Terrier Kromfohrländer Hyperkeratosis, palmoplantar FAM83G missense yes CanFam3.1 5 g.41055619G>C c.155G>C p.R52P 2014 24832243 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001683-9615 dog Cavalier King Charles Spaniel Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis FAM83H deletion, small (<=20) yes c.977delC p.Pro326Hisfs*258 2012 22253609
OMIA 000366-9615 dog Basenji Fanconi syndrome FAN1 deletion, gross (>20) yes "317 bp of exon 14 were deleted starting at the second exon14 nucleotide and extending into the 3' untranslated region of FAN1" 2011 Reference not in PubMed; see OMIA 000366-9615 for reference details
OMIA 000151-9913 cattle Holstein Brachyspina FANCI deletion, gross (>20) yes UMD3.1 21 g.21184870_21188198del c.526-64495_526-67824del p.V877Lfs27X 2012 22952632 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 002064-9685 domestic cat British Shorthair Autoimmune lymphoproliferative syndrome FASLG insertion, small (<=20) yes g.14607400insA c.413_414insA p.Arg140Lysfs*37 2017 27770190
OMIA 000628-9913 cattle Limousin Marfan syndrome FBN1 missense yes UMD3.1 10 g.62054844G>A c.3598G>A p.E1200K 2005 15776436 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000628-9913 cattle Japanese Black Marfan syndrome FBN1 splicing yes UMD3.1 10 g.62141462 c.8227-1G>A 2012 22221020 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000836-9913 cattle Blonde d'Aquitaine Limousin Protoporphyria FECH extension (stop-lost) yes UMD3.1 24 g.57298883G>T c.1250G>T p.*417Lext*27 1998 9784594 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001525-9615 dog German Shepherd Dog Leukocyte adhesion deficiency, type III FERMT3 insertion, small (<=20) yes "12-base pair insertion" 2010 20126836
OMIA 001723-9940 sheep Romney Marsh Familial episodic ataxia FGF14 nonsense (stop-gain) yes Oar_v3.1 10 g.77593415C>T c.46C>T p.Q16* 2017 29253853
OMIA 000889-9031 chicken Israeli experimental line Storrs, Connecticut (low line) UC Davis lines Scaleless FGF20 nonsense (stop-gain) yes Galgal4 4 g.62878803A>T c.535A>T p.R179* 2012 22712610 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000272-9615 dog Rhodesian Ridgeback Thai Ridgeback Ridge & dermoid sinus FGF3 Ridge allele duplication yes A large ~133,000 bp duplication on chromosome 18, encompassing three FGF genes (FGF3, FGF4, FGF19) and another gene ORAOV1 2007 17906623
OMIA 000187-9615 dog Basset Hound Cairn Terrier Cardigan Welsh Corgi Dachshund Dandie Dinmont Terrier Lancashire heeler Norwich Terrier Pekingese Pembroke Welsh Corgi Petit Basset Griffon Vendéen Shih-Tzu Skye Terrier Swedish Vallhund Tibetan spaniel West Highland Terrier Chondrodysplasia FGF4 insertion, gross (>20) yes 18 a 5kb insertion containing a FGF4 retrogene, i.e. a processed pseudogene of FGF4: The insertion containing the FGF4 retrogene starts at 23,431,136 on CFA18, which is 25Mb away from the complete (original) FGF4 gene, which is located at CFA18 48413479-48415205 2009 19608863
OMIA 002133-9615 dog Nova Scotia Duck Tolling retriever Skeletal dysplasia, FGF4-retrogene-related FGF4 insertion, gross (>20) yes CanFam 3 12 g.33710178_33710179insMF040221 " the insertion on CFA12 is 3,209 bp long (GenBank accession no. MF040221) and includes parental FGF4 cDNA (i.e., FGF4 exons spliced without introns) . . . ." 2017 29073074
OMIA 000157-9615 dog American cocker spaniel Basset Hound Beagle Cardigan Welsh Corgi Chesapeake Bay Retriever Chihuahua Coton de Tulear Dachshund English Springer Spaniel French bull dog Intervertebral disc disease, type I FGF4 retrogene in CFA12 insertion, gross (>20) yes CanFam 3 12 g.33710178_33710179insMF040221 " the insertion on CFA12 is 3,209 bp long (GenBank accession no. MF040221) and includes parental FGF4 cDNA (i.e., FGF4 exons spliced without introns) . . . ." 2017 29073074
OMIA 000439-9844 llama Long hair FGF5 complex rearrangement no A "a single base deletion (c.348delA), [and] a 12-bp insertion (c.351_352insCATATAACATAG)" that comprise a single likely causal variant 2017 29024003
OMIA 000439-9685 domestic cat Maine Coon Persian Ragdoll Somali Long hair FGF5 missense no c.194C>A p.P65H 2007 17433015
OMIA 000439-9793 ass Hair, long FGF5 nonsense (stop-gain) no c.245G > A 2014 25927731
OMIA 000439-10141 domestic guinea pig Long hair Fgf5 nonsense (stop-gain) no c.403C>T p.Arg135* "The data were submitted to the European Variation Archive (accession no. PRJEB24997)" 2018 29603294
OMIA 000439-9793 ass Hair, long FGF5 deletion, small (<=20) no c.433_434delAT 2014 25927731
OMIA 000439-9844 llama Long hair FGF5 nonsense (stop-gain) no c.499C>T 2017 29024003
OMIA 000439-10036 golden hamster Hair, long Fgf5 deletion, small (<=20) no c.546delG p.Arg184GlyfsX6 2015 26481120
OMIA 000439-9685 domestic cat Long hair FGF5 insertion, small (<=20) no c.ins356T 2007 17767004
OMIA 000439-9685 domestic cat Long hair FGF5 deletion, small (<=20) no AM412646 c.474delT 2007 17433015
OMIA 000439-9615 dog Afghan Hound Eurasier Long hair FGF5 duplication no CanFam 3.1 32 c.559_560dupGG p.R188Afs*73 2013 23384345
OMIA 000439-9615 dog Eurasier Long hair FGF5 deletion, small (<=20) no CanFam3.1 32 c.556_571del16 p.A186Tfs*69 2013 23384345
OMIA 000439-9615 dog Afghan Hound Border Collie Cocker Spaniel Collie Corgi Dachshund German Shepherd Dog Golden Retriever Pomeranian Samoyed Long hair FGF5 missense no CanFam3.1 32 g.4509367G>T c.284G>T p.C95F 2006 16879338 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000439-9615 dog Akita Samoyed Siberian Huskie Long hair FGF5 missense no CanFam3.1 32 g.4528639C>T c.578C>T p.A193V 2013 23384345 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000439-9615 dog Afghan Hound Long hair FGF5 splicing no CanFam3.1 32 g.8193T>A 2013 23384345
OMIA 000439-9685 domestic cat Long hair FGF5 missense no Felis_catus_6.2 B1 g.140077554A>C c.475A>C p.T159P 2007 17433015 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000439-9685 domestic cat Norwegian Forest Long hair FGF5 nonsense (stop-gain) no Felis_catus_6.2 B1 g.140089230C>T c.406C>T p.R136* 2007 17767004 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000439-9685 domestic cat Norwegian Forest Long hair FGF5 missense no Felis_catus_6.2 B1 g.140097052T>A c.182T>A p.V61D 2007 17433015 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002090-9913 cattle Holstein Facial dysplasia syndrome FGFR2 missense yes UMD3.1 26 g.41861956G>T c.927G>T p.Trp309Cys 2017 28768473 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001703-9940 sheep Suffolk Chondrodysplasia, Spider lamb FGFR3 missense yes c.1719T>A p.V700E 2006 16441300
OMIA 001335-9615 dog German Shepherd Dog Renal cystadenocarcinoma and nodular dermatofibrosis FLCN missense yes CanFam3.1 5 g.42186445A>G c.764A>G p.H255R 2003 14532326 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001360-9031 chicken Beijing You ISA Brown Lohmann Brown Marans Rhode Island Red TETRA Transylvanian naked neck Trimethylaminuria (fishy taint) FMO3 missense yes c.1034A>T p.T329S 2005 15916878
OMIA 001360-9913 cattle Swedish Red and White Trimethylaminuria (fishy taint) FMO3 nonsense (stop-gain) yes UMD 3.1 16 g.39523051C>T c.712C>T p.R238* rs797790546 2002 12466292 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; rsID gleaned from or confirmed by Table 1 of  Sharma et al. (2017) Animal Genetics 48(3):369-370
OMIA 000526-9615 dog Weimaraner Hypomyelination of the central nervous system FNIP2 deletion, small (<=20) yes c.880delA, XM_532705 p.Ile294fsX296 2014 24272703
OMIA 000323-9615 dog Chinese Crested Dog Mexican Hairless Dog (Xoloitzcuintli) Peruvian Hairless Dog (Inca Hairless) Ectodermal dysplasia FOXI3 insertion, small (<=20) yes a 7-bp tandem duplication in exon 1 of FOXI3 2008 18787161
OMIA 000396-9615 dog English Springer Spaniel Fucosidosis, alpha FUCA1 deletion, small (<=20) yes a 14-bp deletion at the 3' end of exon 1 1996 8730282
OMIA 000862-9823 pig Resistance to oedema disease (F18 receptor) FUT1 missense no c.307G>A p.A103T 2000 11132149
OMIA 000418-9615 dog Maltese Glycogen storage disease Ia G6PC missense yes c.450G>C p.M121I 1997 9259982
OMIA 000419-9615 dog Finnish Lapphund Swedish Lapphund Glycogen storage disease II GAA nonsense (stop-gain) yes CanFam3.1 9 g1603730G>A c.2237G>A p.W746* 2013 23457621 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000419-9913 cattle Brahman Glycogen storage disease II GAA E13 nonsense (stop-gain) yes UMD 3.1 19 g.53105979C>T c1783C>T p.R595* 2000 10723725 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000419-9913 cattle Shorthorn Glycogen storage disease II GAA E18 deletion, small (<=20) yes UMD3.1 19 g.53102004 c.2454_2455delCA p.T819R 2000 10723725 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000419-9913 cattle Brahman Droughtmaster Glycogen storage disease II GAA E7 deletion, small (<=20) yes UMD3.1 19 g.53109436_53109437delAT c.1057_1058delAT p.Y353L 2000 10723725 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000578-9615 dog Irish Setter Krabbe disease GALC insertion, gross (>20) yes "a 78 bp insertion" 2006 16490723
OMIA 000578-9544 Rhesus monkey Krabbe disease GALC deletion, small (<=20) yes c.387delAC 1997 9192853
OMIA 000578-9615 dog Cairn Terrier West Highland White terrier Krabbe disease GALC missense yes c.473A>C p.Y158S 1996 8661004
OMIA 001826-9913 cattle Holstein Abortion due to haplotype HH4 GART missense yes UMD3.1 1 g.1277227A>C c.869A>C p.N290T rs465495560 2013 23762392 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000405-9940 sheep Southdown Gaucher disease, type GBA missense yes Oar_v3.1 1 g.103978212G>A c.1142G>A p.C381Y rs429928390 2017 29023809 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000420-9796 horse American Quarter Horse Glycogen storage disease IV GBE1 nonsense (stop-gain) yes c.102C>A p.Y34* 2004 15366377
OMIA 000420-9685 domestic cat Glycogen storage disease IV GBE1 complex rearrangement yes g. IVS11+1552_IVS12-1339 del6. 2007 17257876
OMIA 001245-9031 chicken Rhode Island Red Retinal degeneration I GC1 complex rearrangement yes This allele is characterised by an 81bp insertion adjacent to a 642bp deletion 1998 9448321
OMIA 000701-9031 chicken Naked neck GDF7 insertion, gross (>20) yes a large insertion approximately 260kb downstream from the BMP12 gene (now known as GFD7), increasing the expression of this gene in embryonic skin 2011 21423653
OMIA 000385-9940 sheep Cheviot Fecundity, Thoka, FecG(T) GDF9 missense no Oar_v3.1 5 g.41841117A>C c.1279A>C p.S427R 2009 19713444 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001801-9940 sheep Belclare Irish Cambridge Fecundity, High fertility, FecG(H) GDF9 missense no Oar_v3.1 5 g.41841212C>T c.1184C>T p.S395F 2004 14627550 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001763-9940 sheep Norwegian White Fecundity, Norwegian White Sheep GDF9 missense no Oar_v3.1 5 g.41841285G>A c.1111G>A p.V371M 2013 23280002 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001559-9940 sheep Brazilian Santa Inês Fecundity, Embrapa, FecG GDF9 missense no Oar_v3.1 5 g.41841362T>G c.1034T>G p.F345C 2011 20528846 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001961-9940 sheep Ile de France Fecundity, Vacaria, FecG(V) GDF9 missense no Oar_v3.1 5 g.41841453C>T c.943C>T p.R315C 2014 25039891 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001514-9615 dog English Pointer English Springer Spaniel French Spaniel German Shorthair Pointer Acral mutilation syndrome GDNF regulatory yes "an “in-house” improved annotation of the CanFam 3 genome assembly" (Correard et al., 2017) 4 g.70,875,561C>T "This variant, located 90 kb upstream of the GDNF gene, a highly relevant neurotrophic factor candidate gene, lies in [the last exon of] a long intergenic non-coding RNAs (lincRNA), GDNF-AS." 2016 28033318 The genomic coordinate was provided by Correard et al. (2017)
OMIA 001208-9615 dog Labrador Retriever Alexander disease GFAP missense yes CanFam3.1 9 g.18572769G>A c.719G>A p.R240H 2016 26486469 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001442-9913 cattle Japanese Black Forelimb-girdle muscular anomaly GFRA1 nonsense (stop-gain) yes UMD 3.1 26 g.36951312C>T c.430C>T p.Q144* 2013 Reference not in PubMed; see OMIA 001442-9913 for reference details Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001089-9823 pig Blood group system ABO GGTA1 O deletion, gross (>20) no "the 0 allele has a large deletion between exon 7 of the A0 blood group gene and the neighbouring SURF6". 2011 21554350
OMIA 001473-9913 cattle Brahman Dwarfism, growth-hormone deficiency GH1 missense yes UMD3.1 19 g.48768780C>T c.593C>T p.T198M 2009 19524387 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000309-9031 chicken Connecticut (CT) strain S2 line Dwarfism, sex-linked GHR deletion, gross (>20) yes Z deletion of 1773 bp in the 3' end of the coding region of the growth hormone receptor gene 1994 7964293
OMIA 001920-27706 largemouth bass Abortion due to deletion in GHRH GHRH deletion, gross (>20) yes a 66bp deletion (c.-923_-858del) in the 5' flanking region of the GHRH gene in an autosomal recessive embryonic lethal 2014 24697798
OMIA 002119-9615 dog Leonberger Polyneuropathy (LPN2) GJA9 deletion, small (<=20) yes CanFam3.1 15 g.3863524_3863525delAG c.1107_1108delAG p.Glu370AsnfsTer12 2017 28841859
OMIA 000402-9615 dog Shiba Gangliosidosis, GM1 GLB1 deletion, small (<=20) yes a deletion of a cytosine in exon 15 that causes a premature stop codon in GLB1 2002 12555949
OMIA 000402-9615 dog Alaskan Husky Gangliosidosis, GM1 GLB1 insertion, small (<=20) yes a 19 base pair duplication in exon 15 2001 11355658
OMIA 000402-9615 dog Portugese water dog Gangliosidosis, GM1 GLB1 missense yes c.200G>A p.R60H 2000 11032334
OMIA 000402-9940 sheep Romney Marsh Gangliosidosis, GM1 GLB1 missense yes c.G>T p.CxxxF 2012 Reference not in PubMed; see OMIA 000402-9940 for reference details
OMIA 000402-9685 domestic cat Gangliosidosis, GM1 GLB1 missense yes Felis_catus_6.2 C2 g.155458074G>C c.1448G>C p.R483P 2008 18353697 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000689-9913 cattle Polled Hereford Myoclonus GLRA1 nonsense (stop-gain) yes UMD 3.1 7 g.65080197C>A c.156C>A p.Y52* 2001 11178872 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001427-9685 domestic cat Gangliosidosis, GM2, GM2A deficiency GM2A deletion, small (<=20) yes c.516_519delGGTC p.V173Sfs*17 2005 16200419
OMIA 001368-9031 chicken Retinopathy globe enlarged GNB3 deletion, small (<=20) yes c.D153del 2006 17065478
OMIA 001248-9685 domestic cat Domestic Shorthair Mucolipidosis II GNPTAB nonsense (stop-gain) yes Felis_catus_6.2 B4 c.2644C>T p.Gln882* Wang et al. (2018): "NCBI-RefSeq accession no. XM_003989173.4, Gene ID: 101100231" 2018 30591066
OMIA 000665-9925 goat Mucopolysaccharidosis IIID GNS nonsense (stop-gain) yes c.322C>T p.R102* 1995 7623459
OMIA 001985-9913 cattle Fleckvieh Dwarfism, Fleckvieh GON4L deletion, small (<=20) yes UMD3.1 3 g.15079217delC c.4285_4287delCCCinsCC p.Glu1430LysfsX66 rs723240647 2016 27036302 Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000821-9685 domestic cat Primary hyperoxaluria type II (Oxalosis II) GRHPR splicing yes "point mutation, G to A, . . . at the 3# splice acceptor site of intron 4" 2009 Reference not in PubMed; see OMIA 000821-9685 for reference details
OMIA 000078-9615 dog Coton de Tulear Ataxia, cerebellar GRM1 insertion, gross (>20) yes "a 62-bp truncated retrotransposon insert in exon 8" 2011 21281350
OMIA 000667-9685 domestic cat Mucopolysaccharidosis VII GUSB missense yes c.1421T>G and c.1424C>T p.S475A and p.R476W 2015 26118695
OMIA 000667-9615 dog Brazilian Terrier Mucopolysaccharidosis VII GUSB missense yes CanFam3.1 6 g.740428C>T c.866C>T p.P289L 2012 22815736 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000667-9615 dog German Shepherd Dog Mucopolysaccharidosis VII GUSB missense yes CanFam3.1 6 g.741429G>A c.497G>A p.R166H 1998 9521879 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000667-9685 domestic cat Mucopolysaccharidosis VII GUSB missense yes Felis_catus_6.2 E3 g.15661641G>A c.1051G>A p.E351K 1999 10366443 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001158-9796 horse American Paint Horse Appaloosa Draft Quarter Horse Warmblood Polysaccharide storage myopathy/Exertional rhabdomyolysis GYS1 missense yes EquCab2 10 g.18940324G>A c.926G>A p.R309H 2008 18358695 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001374-9615 dog Labrador Myopathy, centronuclear HACD1 insertion, gross (>20) yes g.9459-9460ins236 2005 15829503
OMIA 001561-9615 dog Shar-Pei Periodic Fever Syndrome HAS2 insertion, gross (>20) yes "several copies of a the "meatmouth" (CNV-E) duplication upstream of the HAS2 gene" 2011 21437276
OMIA 000703-9615 dog Labrador Retriever Narcolepsy HCRTR2 splicing yes 12 a deletion of exon 6 due to a "G to A transition in the 5′ splice junction consensus sequence (position +5, exon 6–intron 6)" 1999 10458611
OMIA 000703-9615 dog Doberman Narcolepsy HCRTR2 splicing yes a "SINE insertion mutation [in the HCRTR2 gene] is the cause of narcolepsy in Dobermans" 1999 10458611
OMIA 000703-9615 dog Dachshund Narcolepsy HCRTR2 missense yes CanFam3.1 12 g.22517939G>A c.160G>A p.E54K 2001 11282968 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000540-9913 cattle Belted Galloway Hypotrichosis HEPHL1 nonsense (stop-gain) yes UMD 3.1 29 g.695072A>T c.1684A>T p.K562* 2012 Reference not in PubMed; see OMIA 000540-9913 for reference details Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001944-9615 dog Miniature Schnauzer Spondylocostal dysostosis, autosomal recessive HES7 deletion, small (<=20) yes CanFam 3.1 5 g.32945846 c.126delG p.(Thr43ProfsTer24) 2015 25659135
OMIA 001987-9685 domestic cat Japanese domestic Bobtail HES7 missense yes Felis_catus_6.2 E1 g.2819475A>G c.5A>G p.V2A 2016 27030474 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001461-9940 sheep Jacob Gangliosidosis, GM2, type I (B variant) HEXA splicing yes c.1330G>C 2010 20817517
OMIA 001461-9615 dog Japanese Chin dog Gangliosidosis, GM2, type I (B variant) HEXA missense yes c.967G>A p.E323K 2013 23266199
OMIA 001461-9615 dog Japanese Chin dog Gangliosidosis, GM2, type I HEXA missense yes CanFam3.1 30 g.35841247G>A c.967G>A p.E323K 2013 23266199 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001462-9685 domestic cat Gangliosidosis, GM2, type II (Sandhoff or variant 0) HEXB splicing yes c.1244-8_1250del15 2009 19231264
OMIA 001462-9685 domestic cat Gangliosidosis, GM2, type II (Sandhoff or variant 0) HEXB complex rearrangement yes c.1467_1491inv25 p.F488Lfs*4 or p.F488Lfs*4 2004 15081585
OMIA 001462-9615 dog Toy Poodle Gangliosidosis, GM2, type II (Sandhoff or variant 0) HEXB deletion, small (<=20) yes c.283delG p.V59fsX 2012 22766310
OMIA 001462-9685 domestic cat Gangliosidosis, GM2, type II (Sandhoff or variant 0) HEXB deletion, small (<=20) yes c.39delC p.L14Sfs*82 1994 8178934
OMIA 001462-9685 domestic cat Gangliosidosis, GM2, type II (Sandoff or variant 0) HEXB nonsense (stop-gain) yes c.667C>T p. R223* 2007 16872651
OMIA 001462-9615 dog Shiba-Inu Gangliosidosis, GM2, type II (Sandhoff or variant 0) HEXB deletion, small (<=20) yes CanFam3.1 2 g.57243656_57243658delCCT c.618_620delCCT p.Leu317del Wang et al. (2018) list the c. coordinate as p.Leu207del, but describe their variant as the same reported by Kolicheski et al. (2017) 2017 28833537
OMIA 001493-9685 domestic cat Porphyria, acute intermittent HMBS deletion, small (<=20) yes c.107_110delACAG p.D36Vfs 6 2013 24239138
OMIA 001493-9685 domestic cat Porphyria, acute intermittent HMBS insertion, small (<=20) yes c.189dupT 2010 19934113
OMIA 001493-9685 domestic cat Porphyria, acute intermittent HMBS deletion, small (<=20) yes c.842_844delGAG 2013 24239138
OMIA 001493-9685 domestic cat Porphyria, acute intermittent HMBS missense yes Felis_catus_6.2 D1 g.16391905G>A c.250G>A p.A84T 2013 24239138 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001493-9685 domestic cat Porphyria, acute intermittent HMBS missense yes Felis_catus_6.2 D1 g.16392832 c.445C>T p.R149W 2013 24239138 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001493-9685 domestic cat Porphyria, acute intermittent HMBS splicing yes Felis_catus_6.2 D1 g.16394866G>A c.826-1G>A 2013 24239138 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000299-9986 rabbit Dwarfism HMGA2 deletion, gross (>20) yes "that the dwarf allele constitutes a ~12.1 kb deletion overlapping the promoter region and first three exons of the HMGA2 gene leading to inactivation of this gene." 2017 27986804
OMIA 000317-9913 cattle Highland Ears, crop HMX1 insertion, gross (>20) no 76bp duplication of 106,720058 to 106,720,133 on BTA6; UMD3 reference assembly 2013 24194898
OMIA 001952-9823 pig Microtia HOXA1 indel, small (<=20) yes c.451delinsTC 2015 26035869
OMIA 000668-9031 chicken Huiyang Bearded Muffs and beard HOXB8 complex rearrangement no "The Mb allele differs from the wild-type mb allele by three duplications, one in tandem and two that are translocated to that of the tandem repeat around 1.70 Mb on GGA27 2016 27253709
OMIA 000081-9796 horse Arabian Atlanto occipital fusion HOXD3 deletion, gross (>20) yes "a 2.7-kb deletion located 4.4 kb downstream of the end of HOXD4 and 8.2 kb upstream of the start of HOXD3." 2017 28111759
OMIA 002116-69293 three-spined stickleback Coat colour, albinism, oculocutaneous, HPS5-related Hps5 casper insertion, small (<=20) yes "casper mutants have an insertion of a single nucleotide in the 6th exon of Hsp5, predicted to generate an early frameshift" 2017 28739598
OMIA 001348-9544 Rhesus monkey Atrichia with papular lesions HR nonsense (stop-gain) yes MMUL_1 8 g.22046679C>T c.1831C>T p.R611* 2002 11831740 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000540-9940 sheep Valle del Belice Hypotrichosis HR nonsense (stop-gain) yes Oar_v3.1 2 g.43224867C>T c. 1312C>T p.Q438* rs423413166 2003 12927087 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001758-9615 dog Australian Shepherd Cataract, early onset HSF4 deletion, small (<=20) yes g.85286582delC 2006 16939467
OMIA 001758-9615 dog Staffordshire Bull Terrier Cataract, early onset HSF4 insertion, small (<=20) yes g.85286582–85286583insC 2006 16939467
OMIA 001319-9913 cattle Holstein-Friesian Myopathy of the diaphragmatic muscles HSPA1A deletion, gross (>20) yes 23 Deletion of one of two HSP70 (heat-shock protein) genes in the bovine major histocompatibility complex 2003 12755819
OMIA 001817-9913 cattle Japanese Black Perinatal weak calf syndrome IARS missense yes UMD3.1 8 g.85341291G>C c.235G>C p.V79L 2013 23700453 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000664-9685 domestic cat Mucopolysaccharidosis I IDUA deletion, small (<=20) yes a 3 bp deletion in the IDUA gene 1999 10356309
OMIA 000664-9615 dog Plott Hound Mucopolysaccharidosis I IDUA splicing yes CanFam3.1 3 g.91534420G>A c.155+1G>A 1992 1339393 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000006-9031 chicken Chinese Xingyi Achondroplasia, creeper IHH deletion, gross (>20) yes 7 g.21798705_21810600del "a 11,896bp large deletion region (chr7: 21,798,705-21,810,600) covering the entire Indian hedgehog (IHH) gene" 2016 27439785
OMIA 001899-9796 horse Quarter Horse Warmblood Incontinentia pigmenti IKBKG nonsense (stop-gain) yes EquCab 2 X g.122833887C>T c.202C>T p.R68* 2013 24324710 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000899-9615 dog Basset Hound Severe combined immunodeficiency disease, X-linked IL2RG deletion, small (<=20) yes a four nucleotide deletion causing a frame shift and subsequent premature termination of the gene coding for the gamma chain of the IL-2 receptor 1994 7829104
OMIA 000899-9615 dog Cardigan Welsh Corgi Severe combined immunodeficiency disease, X-linked IL2RG insertion, small (<=20) yes a single nucleotide insertion causing a frameshift 1995 8571541
OMIA 002173-9615 dog Norwich Terrier Diffuse cystic renal dysplasia and hepatic fibrosis INPP5E splicing yes CanFam3.1 9 g.49069064G>A c.1572+5G>A Dillard et al. (2018): "the identified variant introduces a novel splice site in INPP5E causing a frameshift and formation of a premature stop codon." 2018 30235266
OMIA 001675-61379 black-footed cat Cone-rod dystrophy 2 IQCB1 deletion, small (<=20) yes c.1282delCT p.L428* 2017 28322220
OMIA 001675-9615 dog American pit bull terrier Cone-rod dystrophy 2 IQCB1 insertion, small (<=20) yes CanFam 2 33 g.28120686-28120687 c.952-953insC p.S319IfsX12 2013 24045995
OMIA 001528-9940 sheep Romane Fleece variation, woolly IRF2BP2 insertion, gross (>20) no Oarv3.1 25 2017 28379502
OMIA 001886-9615 dog Karelian bear dog Norwegian Elkhound Chondrodysplasia, disproportionate short-limbed ITGA10 nonsense (stop-gain) yes c.2083C>T p.R695* 2013 24086591
OMIA 001000-9615 dog Great Pyrenees Thrombasthenia ITGA2B splicing yes "a 14-base insertion in exon 13 and defective splicing of intron 13" 2000 11105947
OMIA 001000-9796 horse Peruvian Paso Quarter Horse Thrombasthenia ITGA2B deletion, small (<=20) yes "A 10-base-pair deletion" 2007 17338169
OMIA 001000-9615 dog Scottish Deerhound Thrombasthenia ITGA2B missense yes c.1100G>C p.D367H 2001 11703027
OMIA 001000-9796 horse Quarter Horse Thoroughbred Thrombasthenia ITGA2B missense yes c.G>C p.R41P 2006 16407493
OMIA 000595-9615 dog Irish Setter Leukocyte adhesion deficiency, type I ITGB2 missense yes CanFam3.1 31 g.38537012G>C c.107G>C p.C36S 1999 10512685 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000595-9685 domestic cat Leukocyte adhesion deficiency, type I ITGB2 ITGB-2 missing exon 2 deletion, gross (>20) yes ICGSC Felis_catus_8.0 C2 g.1715627_1715650delGCCCTCTGGT c.46_58 + 11del 2017 28750142
OMIA 000595-9913 cattle Fleckvieh Holstein-Friesian Jersey Leukocyte adhesion deficiency, type I ITGB2 missense yes UMD3.1 1 g.145114963A>G c.383A>G p.D128G rs445709131 1992 1384046 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001948-9913 cattle Charolais Epidermolysis bullosa, junctionalis, ITGB4 ITGB4 deletion, gross (>20) yes "a 4.4 kb deletion involving exons 17 to 22" of the ITGB4 gene 2015 25890340
OMIA 001948-9940 sheep Churra Epidermolysis bullosa, junctionalis, ITGB4 ITGB4 deletion, small (<=20) yes Oar_v3.1 11 g.54849767-54849770 c.4412_4415del 2015 25955497
OMIA 002097-9615 dog Italian Spinone Ataxia, spinocerebellar ITPR1 complex rearrangement yes Forman et al. (2015) identified an expanded GAA-repeat in intron 35 of the ITPR1 gene in affected dogs. The wildtype sequence contains 8 GAA repeats. The expanded disease-associated alleles carry an estimated 318-651 GAA repeats. 2015 25354648
OMIA 000809-9615 dog Polycythemia JAK2 complex rearrangement yes c.1849G>T, c.1852T>C, c.1853G> p.V617F, p.C618L a three-base change in codons 617 and 618 of JAK2 giving rise to V617F and C618L 2011 21320566
OMIA 002089-9615 dog Smooth-Haired Fox Terrier Jack Russell Terrier Parson Russell Terrier Ataxia, cerebellar, KCNJ10-related KCNJ10 missense yes c.627C>G p.Ile209Met 2014 24708069
OMIA 002089-9615 dog Malinois Spongy degeneration with cerebellar ataxia 1 (SDCA1) KCNJ10 missense yes c.986T>C p.Leu329Pro 2017 27966545 28007838
OMIA 002089-9615 dog Jack Russell Terrier Ataxia, cerebellar, KCNJ10-related KCNJ10 insertion, small (<=20) yes g.22141027insC 2016 27724896
OMIA 001722-9913 cattle Romagnola Lethal multi-organ developmental dysplasia KDM2B missense yes UMD3.1 17 g.56010031G>A c.2503G>A p.D835N 2012 23029151 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000939-9913 cattle Braunvieh Spinal muscular atrophy KDSR missense yes UMD3.1 24 g.62138763G>A c.562G>A p.A188T 2007 17420465 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000979-9031 chicken Talpid-3 KIAA0586 insertion, small (<=20) yes insT 2006 16702409
OMIA 000527-9913 cattle Charolais Progressive ataxia KIF1C missense yes UMD3.1 19 g.27041449C/T c.608G>A p.R203Q; p.RT203-204QStop Duchesne et al. (2018): "Using a combination of next generation sequencing and whole genome SNP analysis, we determined that in the majority of cases with this phenotype, the disease is caused by a single substitution, c.608G>A, in the KIF1C gene. This substitution has two effects: firstly, it modifies a conserved amino acid (p.R203Q). Secondly, it causes an alternative splicing event, resulting in exon 5 skipping in most of the transcripts (p.RT203-204QStop) associated with a drastic reduction of overall mRNA expression and leading to the absence of detectable KIF1C protein in brain extracts from affected cattle." 2018 30067756
OMIA 000209-9823 pig Dominant white KIT splicing no a substitution of A for G in the first nucleotide of intron 17, resulting in the loss of exon 17 1998 9724328
OMIA 001216-9823 pig Coat colour, roan KIT splicing no a U(26) repeat in intron 5 of the KIT gene, which is likely to mediate skipping of exon 5 of the gene in some tissues including skin 2011 21749430
OMIA 001737-9615 dog Coat colour, white spotting, KIT-related KIT insertion, small (<=20) no "a 1-bp insertion of an adenine 70 bases downstream of the beginning of exon 2." 2013 23134432
OMIA 001743-9823 pig Coat colour, patch KIT duplication no the patch allele comprises a 450kb duplication that includes KIT (roughly in the middle) 1998 9724328
OMIA 001737-9685 domestic cat Coat colour, white spotting, KIT-related KIT insertion, gross (>20) no "an insertion of an entire feline endogenous retrovirus (FERV1) into intron 1 of the KIT gene." 2014 25085922
OMIA 001745-9823 pig Bavarian Landschwein Essex Hampshire Wessex Saddleback Coat colour, white belt, KIT-related KIT complex rearrangement no Hampshire pigs (belted phenotype) have "a 4.3-kb duplication (DUP2) located ~¼100 kb upstream of KIT and a 23-kb duplication (DUP3) ~100 kb downstream of KIT, which in turn contained a fourth ~4.3-kb duplication (DUP4) not present on wild-type chromosomes". Across four breeds, belted pigs always had DUP2 and DUP4, but some lacked DUP3. 2012 23151514
OMIA 000426-9913 cattle Northern Finncattle Swedish Mountain Gonadal hypoplasia KIT cs(29) complex rearrangement yes "gonadal hypoplasia in Northern Finncattle and Swedish Mountain cattle is associated with a complex chromosomal rearrangement including a ~500kb duplicated segment from BTA6 which is translocated to BTA29. This duplicated segment includes the entire coding sequence of the KIT gene" 2013 24086604
OMIA 001576-9913 cattle Belgian Blue British White Park Brown Swiss Galloway Coat colour, colour-sided KIT cs(29) complex rearrangement no "colour sidedness is determined by a first allele on chromosome 29 (Cs(29)), which results from the translocation of a 492-kilobase chromosome 6 segment encompassing KIT to chromosome 29, and a second allele on chromosome 6 (Cs(6)), derived from the first by repatriation of fused 575-kilobase chromosome 6 and 29 sequences to the KIT locus. We provide evidence that both translocation events involved circular intermediates. This is the first example, to our knowledge, of a phenotype determined by homologous yet non-syntenic alleles that result from a novel copy-number-variant-generating mechanism." 2012 22297974
OMIA 000209-9823 pig Dominant white KIT complex rearrangement no This dominant white allele carries at least three causal polymorphisms, namely a 450 kb duplication (also present in Patch - see OMIA 001743-9825), the splice mutation reported by Marklund et al. (1998) (unique to Dominant white) and smaller duplication(s) (that occur within the 450kb duplication) causing Belt (see OMIA 001745-9825).(with thanks to Leif Andersson) 2012 23151514
OMIA 000209-9685 domestic cat Domestic Longhair Coat colour, dominant white KIT insertion, gross (>20) yes B1 "a FERV1 long terminal repeat (LTR) is associated with all Dominant White individuals" 2014 25085922
OMIA 001580-9685 domestic cat Feet, white KIT indel, small (<=20) no c.1035_1036delinsCA 2010 21147473
OMIA 000209-9796 horse Thoroughbred Coat colour, dominant white KIT W27 missense unknown 3 c.1473T>G p.Cys491Trp 2018 29333746
OMIA 001737-9838 Arabian camel Coat colour, white spotting, KIT-related KIT deletion, small (<=20) no c.1842delG p.M614IfsX5 2017 28282952
OMIA 000209-494514 Arctic fox Coat colour, dominant white KIT splicing no c.1867+1G>T 2013 24308634
OMIA 001737-9615 dog Coat colour, white spotting, KIT-related KIT deletion, small (<=20) no c.1960_1962delCTC p.Leu654del 2013 23659249
OMIA 001737-9793 ass Coat colour, white spotting, due to KIT KIT splicing no c.1978+2T>A 2015 25818843
OMIA 000209-9796 horse Thoroughbred Coat colour, dominant white KIT W26 deletion, small (<=20) unknown 3 c.2536delA p.Ser846Valfs*15 2018 29333746
OMIA 000209-9793 ass Coat colour, dominant white KIT missense no c.662A>C p.Y221S 2015 25818843
OMIA 000209-9796 horse South German Draft Coat colour, dominant white KIT W11 splicing no Equ cab 2 3 g.77731743G>A c.2684+1G>A 2009 19456317 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Miniature Horse Quarter Horse Coat colour, dominant white KIT W13 splicing no Equ cab 2 3 g.77735380G>C c.2472+5G>C 2011 21554354 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Appaloosa Haflinger Lipizzan Noriker Quarter Horse Coat colour, dominant white KIT sabino 1 (SB1) splicing no Equ cab 2 3 g.77735520A>T "SNP AX-103727726 (ECA3:77735520; SB1, SNP KI16+1037A)" (Druml et al., 2018) 2005 16284805 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Icelandic Coat colour, dominant white KIT W8 splicing no Equ cab 2 3 g.77736688 c.2222-1 2009 19456317 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Swiss Warmblood Coat colour, dominant white KIT W18 splicing no Equ cab 2 3 g.77745065G>A c.1346 + 1G>A 2013 23659293 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Thoroughbred Coat colour, dominant white KIT W7 splicing no Equ cab 2 3 g.77771305G>C c.338-1G>C 2009 19456317 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse White spotting KIT W22 deletion, gross (>20) no EquCab2 3 g.77,740,239_77,742,136del1898 2017 28444912
OMIA 000209-9796 horse Oldenburg Coat colour, dominant white KIT W16 missense no EquCab2 3 g.77732055A>T c.2489A>T p.K830I 2011 21554354 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Thoroughbred Coat colour, dominant white KIT W14 deletion, gross (>20) no EquCab2 3 g.77735465_77735518del c.2392_2445del p.H798_N815del 2011 21554354 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Icelandic White spotting KIT W21 deletion, small (<=20) no EquCab2 3 g.77735488delG c.2369delC p.Ala790Glufs*20 2015 26059442 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Thoroughbred Coat colour, dominant white KIT W5 deletion, small (<=20) no EquCab2 3 g.77737214delG c.2193delG p.T732QfsX9 2009 19456317 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Franches-Montagnes Coat colour, dominant white KIT W1 nonsense (stop-gain) no EquCab2 3 g.77737256C>G c.2151C>G p.Y717* 2007 17997609 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse American Paint Horse Appaloosa German Riding Pony Gipsy Noriker Old-Tori Oldenberg Quarter Horse Thoroughbred Warmblood Welsh Pony Coat colour, dominant white KIT W20 missense unknown EquCab2 3 g.77739534G>A c.2045G>A p.R682H 2013 23659293 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Japanese Draft Coat colour, dominant white KIT W17b missense no EquCab2 3 g.77739558T>C c.2021T>C p.L674P 2011 21554354 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Japanese Draft Coat colour, dominant white KIT w17a missense no EquCab2 3 g.77739579A>T c.2001A>T p.E667D 2011 21554354 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Thoroughbred Coat colour, dominant white KIT W2 missense no EquCab2 3 g.77740854G>A c.1960G>A p.G654R 2007 17997609 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Camarillo White Horse Coat colour, dominant white KIT W4 missense no EquCab2 3 g.77741094C>T c.1805C>T p.A602V 2007 17997609 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Holstein Coat colour, dominant white KIT W9 missense no EquCab2 3 g.77741111G>A c.1789G>A p.G597R 2009 19456317 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Arabian Coat colour, dominant white KIT W15 missense no EquCab2 3 g.77741665T>C c.1597T>C p.C533R 2011 21554354 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Arabian Coat colour, dominant white KIT W19 missense no EquCab2 3 g.77745090A>G c.1322A>G p.Y441C 2013 23659293 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Quarter Horse Coat colour, dominant white KIT W10 deletion, small (<=20) no EquCab2 3 g.77758240_77758243del c.1126_1129delGAAC p.E376FfsX3 2009 19456317 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Thoroughbred Coat colour, dominant white KIT W6 missense no EquCab2 3 g.77765059G>A c.856G>A p.G286R 2009 19456317 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Arabian White spotting KIT W23 splicing unknown EquCab2 3 g.77769789C>G c.756+1G>C ss2137493881 2017 28378922
OMIA 000209-9796 horse Arabian Coat colour, dominant white KIT W3 nonsense (stop-gain) no EquCab2 3 g.77769840A>T c.706A>T p.K236* 2007 17997609 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Thoroughbred Coat colour, dominant white KIT W12 deletion, small (<=20) unknown EquCab2 3 g.77771079_77771083delTCTGC c.559_563delTCTGC p.Ser187ArgfsX10 2010 Reference not in PubMed; see OMIA 000209-9796 for reference details Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000209-9796 horse Italian Trotter Coat colour, dominant white KIT W24 splicing no EquCab2.0 3 g.77736559C>T 2017 28856698
OMIA 000209-9796 horse Thoroughbred Coat colour, dominant white KIT W25 missense unknown EquCab2.0 3 g.77769878A>G c.668T>C p.Leu223Pro 2018 29333746
OMIA 001516-9615 dog Gastrointestinal stromal tumor KIT deletion, small (<=20) yes NC_006595.2 g.50110838_50110843delAGTGGA 2010 20950418
OMIA 001516-9615 dog Gastrointestinal stromal tumor KIT deletion, small (<=20) yes NC_006595.2 g.50110841_50110846delGGAAGG 2010 20950418
OMIA 001787-9615 dog Standard Poodle Squamous cell carcinoma of the digit KITLG repeat variation yes a copy number variant (CNV) of KITLG 2013 23555311
OMIA 001216-9913 cattle Belgian Blue Shorthorn Roan KITLG missense no UMD3.1 5 g.18339001 c.572C>A p.A191N 1999 10384045 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000819-9615 dog Shih-Tzu Prekallikrein deficiency KLKB1 missense yes CanFam3.1 16 g.44501415T>A c.988T>A p.F330I 2011 20736516 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001415-9615 dog Norfolk terrier Hyperkeratosis, epidermolytic KRT10 splicing yes "a single base GT>TT change in the consensus donor splice site of intron 5" 2005 16029326
OMIA 002088-9615 dog Dogue de Bordeaux Palmoplantar keratoderma, nonepidermolytic, focal 1 KRT16 complex rearrangement yes p.Glu392* 2015 25521457
OMIA 000245-9796 horse Bashkir Curly Horse Curly Curly coat KRT25 Crd missense no EquCab3.0 11 g.21962991G>A c.266G>A p.Arg89His rs1095048844 2018 29686323 29141579 Variant coordinates obtained from and/or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000246-9913 cattle Ayrshire Fleckvieh German Angus Montbeliarde Curly hair, karakul-type KRT27 missense no UMD3.1 19 g.41636961C>G c.276C>G p.Asn92Lys rs384881761 2014 25017103 Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 002081-9913 cattle Friesian-Jersey mosaic Epidermolysis bullosa KRT5 missense yes UMD3.1 5 g.27545478G>A c.1432G>A p.E478K 2005 15955091 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001581-9685 domestic cat Curly coat, Devon rex KRT71 complex rearrangement no c.1108-4_1184del;c.1184_1185in This complex variant causes a slicing variation 2010 20953787
OMIA 000245-9615 dog Bichon Frise Chesapeake Bay Retriever Curly-coated retriever Irish Terrier Lagotto Romagnolo Spanish water dog Curly coat KRT71 c^2 indel, small (<=20) no 27 c.1266_1273delinsACA p.Ser422ArgfsTer? Bauer et al. (2019) and Salmela et al. (2019): NM_001197029.1:c.1266_1273delinsACA; NP_001183958.1:p.Ser422ArgfsTer? 2019 30444027 30456859
OMIA 001712-9685 domestic cat Curly coat, Selkirk rex KRT71 splicing no c.445-1G>C 2013 23770706
OMIA 000245-9615 dog Portugese water dog Curly coat KRT71 c^1 missense no c.451C>T p.R151W 2009 19713490
OMIA 001583-9685 domestic cat Sphynx hairless KRT71 splicing yes Felis_catus_6.2 B4 g.81502136G>A c.816+1G>A 2010 20953787 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002114-9913 cattle Hereford Hypotrichosis, KRT71-related KRT71 deletion, small (<=20) yes UMD3.1 5 g.27505486delTGTGCCCA c.334delTGTGCCCA p.Met93AsnfsX14 2010 Reference not in PubMed; see OMIA 002114-9913 for reference details Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000394-9031 chicken Frizzle KRT75 deletion, gross (>20) no a 69 bp in-frame deletion in a conserved region of KRT75 2012 22829773
OMIA 001371-9615 dog Yorkshire Terrier L-2-hydroxyglutaricacidemia L2HGDH regulatory yes c.1A>G p.Met1? 2012 22843824
OMIA 001371-9615 dog Staffordshire Bull Terrier L-2-hydroxyglutaricacidemia L2HGDH complex rearrangement yes c[1297T>C; 1299C>T] p[Leu433Pro; His434Tyr] "two single‐nucleotide substitutions separated by a single invariant T nucleotide in exon 10 (c[1297T→C; 1299c→t]; p[Leu433Pro; His434Tyr])" 2007 17475916
OMIA 001677-9796 horse American Saddlebred Epidermolysis bullosa, junctionalis, LAMA3-related LAMA3 deletion, gross (>20) yes "6589-bp deletion spanning exons 24-27 . . . in the LAMA3 gene in American Saddlebred foals" 2009 19016681
OMIA 001677-9615 dog German pointer Epidermolysis bullosa, junctionalis, LAMA3 LAMA3 insertion, gross (>20) yes "insertion (4818+207ins6.5 kb) of repetitive satellite DNA within intron 35 of the gene (LAMA3)" 2005 15737193
OMIA 001677-9913 cattle Belgian Blue Epidermolysis bullosa, junctionalis, LAMA3-related LAMA3 nonsense (stop-gain) unknown UMD3.1 24 g.33111473C>T c.7549C>T p.R2517* 2015 26370913 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001678-9913 cattle Hereford Epidermolysis bullosa, junctionalis, LAMC2 LAMC2 deletion, gross (>20) yes "2.4 kb deletion encompassing the first exon of the LAMC2 gene" 2015 25888738
OMIA 001678-9796 horse Belgian Italian draft horse Trait Breton Trait Comtois Epidermolysis bullosa, junctionalis, LAMC2-related LAMC2 insertion, small (<=20) yes c.1368insC 2002 12230513
OMIA 001678-9940 sheep German Blackheaded Mutton Epidermolysis bullosa, junctionalis, LAMC2-related LAMC2 deletion, small (<=20) yes FM872310 c.2746delCA p.A928X 2011 21573221
OMIA 001160-9986 rabbit Hyperlipidaemia LDLR deletion, small (<=20) yes "an in-frame deletion of 12 nucleotides that eliminates four amino acids from the cysteine-rich ligand binding domain of the LDL receptor" 1986 3010466
OMIA 000499-9823 pig FH-r strain Hypercholesterolaemia LDLR missense yes 2 c.250C>T p. Arg84Cys 1998 9556295
OMIA 002031-9615 dog Lundehund Lundehund syndrome LEPREL1 missense yes 34 g.139212C>G 2016 27485430
OMIA 001596-9615 dog Lagotto Romagnolo Epilepsy, benign familial juvenile LGI2 nonsense (stop-gain) yes c.1552A>T p.K518* 2011 21829378
OMIA 000307-9615 dog Czechoslovakian wolfdog German Shepherd Dog Saarloo Pituitary dwarfism LHX3 splicing yes "a deletion of one of six 7 bp repeats in intron 5 of LHX3" 2011 22132174
OMIA 000307-9615 dog German Shepherd Dog Pituitary dwarfism LHX3 insertion, small (<=20) yes NM_001197187 c.545_547dupACA p.N182dup 2011 22132174
OMIA 001566-9986 rabbit Rex coat LIPH deletion, small (<=20) no c.1362delA 2011 21552526
OMIA 000939-9685 domestic cat Spinal muscular atrophy LIX1 deletion, gross (>20) yes a ~140 kb deletion removing exons 4-6 of LIX1 and all except exon 1 of LNPEP 2006 16899656
OMIA 001612-9031 chicken Silky/Silkie Oligozeugodactyly LMBR1 deletion, gross (>20) yes "a large deletion in LMBR1-intron 5, eliminating most of the limb-specific enhancer conserved sequence." 2011 21509895
OMIA 000810-9031 chicken Polydactyly LMBR1 regulatory yes Gallus_gallus-5.0 2 g.8500245G>T rs80659072 2010 20064842
OMIA 001715-9796 horse Numerous breeds Gaitedness LOC100147177 nonsense (stop-gain) no 23 g.22999655C>A p.S301* 2012 22932389
OMIA 001040-9615 dog Rhodesian Ridgeback Ventricular arrhythmias and sudden death LOC100683626 missense yes CanFam3 17 g.54,343,438G>A ENSCAFG00000018796: g.54343438 G>A. 2019 30795627
OMIA 001701-13146 budgerigar Feater colour, blue LOC101880715 missense no 1 p.R644W 2017 28985565
OMIA 000344-9031 chicken Fayoumi eplipeptic strain Epilepsy LOC430486 splicing yes c581-4CC>TG 2011 22046416
OMIA 001505-9940 sheep Swedish Landrace Neuronal ceroid lipofuscinosis, 10 LOC443060 missense yes c.934G>A p.D295N 2000 10856224
OMIA 002071-9615 dog Labrador Retriever Macular corneal dystrophy LOC489707 missense yes CanFam3.1 5 g.75279699C>A c.814C>A p.R272S 2016 26585178 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001451-9913 cattle Belgian Blue Congenital muscular dystonia 2 LOC528050 missense yes UMD3.1 29 g.24610495T>C c.809T>C p.L270P 2008 18344998 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001928-9615 dog Labrador Retriever Myasthenic syndrome, congenital LOC608697 missense yes c.1010T>C p.I337T 2014 25166616
OMIA 001684-9685 domestic cat Curly/woolly coat, Cornish Rex and German Rex LPAR6 deletion, small (<=20) no c.250_253_delTTTG 2013 23826204
OMIA 001210-9685 domestic cat Hyperlipoproteinaemia LPL missense yes p.G412R 1996 8636438
OMIA 000963-9913 cattle Angus Syndactyly (mule foot) LRP4 splicing yes UMD3.1 15 g.77667136 c.5385+1G>A "a G to A transition at the first nucleotide in the splice donor site of intron 37" 2006 16963222 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000963-9913 cattle German Simmental Holstein Syndactyly (mule foot) LRP4 missense yes UMD3.1 15 g.77675440 c.4940C>T p.Pro1647Leu rs109636878 2007 17319939 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446; rsID gleaned from or confirmed by Table 1 of  Sharma et al. (2017) Animal Genetics 48(3):369-370
OMIA 000963-9913 cattle Holstein Syndactyly (mule foot) LRP4 indel, small (<=20) yes UMD3.1 15 g.77675516_77675517delCGinsAT c.4840_4841delCGinsAT p.(Asn1614_Gly1615delinsLysCys 2006 16859890 Variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000963-9913 cattle German Simmental Holstein Syndactyly (mule foot) LRP4 missense yes UMD3.1 15 g.77682052G>A c.3571G>A p.Gly1191Ser 2007 17319939 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000963-9913 cattle German Simmental Holstein Syndactyly (mule foot) LRP4 missense yes UMD3.1 15 g.77686731G>A c.2719G>A p.Gly907Arg 2007 17319939 Variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 002017-9685 domestic cat Glaucoma 3, primary congenita LTBP2 insertion, small (<=20) yes B3 g.120995236 "a 4-bp insertion in exon 8 located at chrB3: 120995236" 2016 27149523
OMIA 001429-9685 domestic cat Coat colour, tabby LVRN missense no p.D228N 2012 22997338
OMIA 001721-32536 cheetah Coat colour, king LVRN insertion, small (<=20) no p.N977Kfs110 2012 22997338
OMIA 001429-9685 domestic cat Blotched tabby LVRN nonsense (stop-gain) no p.S59* 2012 22997338
OMIA 001429-9685 domestic cat Blotched tabby LVRN nonsense (stop-gain) no p.W841* 2012 22997338
OMIA 000185-452646 American mink Chediak-Higashi syndrome LYST deletion, small (<=20) yes c.9468delC 2013 22762706
OMIA 000185-9913 cattle Japanese Black Chediak-Higashi syndrome LYST missense yes UMD3.1 28 g.8508619A>G c.6044A>G p.H2015R 1999 10594238 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000625-9685 domestic cat Mannosidosis, alpha MAN2B1 deletion, small (<=20) yes c.1749_1752delCCAG p.Q584Afs*179 1997 9396732
OMIA 000625-10141 domestic guinea pig Mannosidosis, alpha Man2b1 missense yes c.679C>T p.R227W 2002 11959458
OMIA 000625-9913 cattle Galloway Mannosidosis, alpha MAN2B1 missense yes UMD3.1 7 g.13956640G>A c.662G>A p.R221H 1997 9208932 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000625-9913 cattle Angus Murray Grey Mannosidosis, alpha MAN2B1 missense yes UMD3.1 7 g.13957949T>C c.961T>C p.F321L 1997 9208932 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000626-9925 goat Mannosidosis, beta MANBA deletion, small (<=20) yes c.1398delG 1996 8921369
OMIA 000626-9615 dog German Shepherd Dog Beta mannosidosis MANBA missense yes CanFam3.1 32 g.24,147,500T>A c.560T>A p.I187N 2019 30983534
OMIA 000626-9913 cattle Salers Mannosidosis, beta MANBA nonsense (stop-gain) yes UMD 3.1 6 g.23540228G>A c.2574G>A p.W858* 1999 10594236 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001432-9615 dog Miniature Long-haired Dachsund Cone-rod dystrophy 4 MAP9 deletion, gross (>20) yes An approximately 22kb deletion "approximately 30 Mb upstream of RPGRIP1 . . . The deletion breakpoints were identified in MAP9 intron 10 and in a downstream partial MAP9 pseudogene." 2016 27017229
OMIA 002021-9796 horse Quarter Horse Coat colour, brindle 1 MBTPS2 splicing no c.1437+4T>C 2016 27449517
OMIA 001199-30640 gray squirrel Coat colour, extension MC1R deletion, gross (>20) no MC1R-Δ24 allele E^B ["at amino acid positions 87-94"] 2009 19643815
OMIA 001199-10141 domestic guinea pig Brown coat colour MC1R e (MC1R*4) deletion, gross (>20) no Vidal (2018): "a deletion of 2760 bp, including the entire MC1R coding region" 2018 30101449
OMIA 001199-9823 pig Red MC1R missense no p.A161V 1998 9799269
OMIA 001199-9823 pig Red MC1R missense no p.A243T 1998 9799269
OMIA 001199-9627 red fox Coat colour, extension MC1R missense no p.C125R 1997 9054949
OMIA 001199-46844 Geoffroy's cat Coat colour, extension MC1R missense no p.C125R 2015 25695801
OMIA 001199-9940 sheep Dominant black MC1R missense no p.D121N 1999 9892731
OMIA 001199-494514 Arctic fox Coat colour, extension MC1R missense no p.F280C 2005 15982782
OMIA 001199-494514 Arctic fox Coat colour, extension MC1R missense no p.G5C 2005 15982782
OMIA 002156-46218 Chinese painted quail Feather colour, Blue Face MC1R missense no p.Glu92Lys 2018 29974967
OMIA 001199-9940 sheep Dominant black MC1R missense no p.M73K 1999 9892731
OMIA 002155-46218 Chinese painted quail Feather colour, Red Breasted MC1R missense no p.Pro292Leu 2018 29974967
OMIA 001199-89462 water buffalo Coat colour, extension MC1R missense no p.S104G 2010 20596837
OMIA 000374-57662 red-footed booby Coloured feathers MC1R missense no p.Val85Met 2007 17602182
OMIA 000374-9031 chicken Feather colour, extended black MC1R regulatory no c.-37C>T ss2137510513 2017 28699279
OMIA 001199-9986 rabbit Coat colour, extension MC1R deletion, small (<=20) no c.124G>A;125_130del6 2006 16978179
OMIA 000374-9031 chicken Feather colour, extended black MC1R missense no c.212T>C p.Met71Thr ss2727686851 2017 28699279
OMIA 001199-9870 reindeer Coat colour, extension MC1R missense no c.218T>C p.M73T 2014 25039753
OMIA 001495-9615 dog Afghan Hound Saluki Grizzle MC1R E^G missense no c.233G>T p.G78V 2010 20525767
OMIA 000374-9031 chicken Feather colour, extended black MC1R missense no c.274G>A p.E92K ss2727686852 2003 12873211
OMIA 001199-9823 pig Dominant black MC1R missense no c.296T>C p.L99P 1998 9799269
OMIA 001199-9986 rabbit Coat colour, extension MC1R deletion, gross (>20) no c.304_333del30 2006 16978179
OMIA 001199-9823 pig Dominant black MC1R missense no c.361G>A p. D121N 1998 9799269
OMIA 001494-9103 turkey Feather colour, dominant black MC1R missense no c.364A>T p.I122F 2010 20634512
OMIA 001199-9627 red fox Coat colour, extension MC1R missense no c.373C>T p.C125R 2016 27072328
OMIA 001199-9685 domestic cat Burmese Coat colour, russet MC1R e^r deletion, small (<=20) no c.439_441del p.Phe146del 2017 27671997
OMIA 001199-9793 ass miniature donkey Normand Red coat colour MC1R e missense no c.629T>C p.M210T 2014 25155046
OMIA 000374-9031 chicken Feather colour, buttercup MC1R missense no c.644A>C p.H215P ss2727686853 2003 12873211
OMIA 001199-9823 pig Bama miniature Recessive white MC1R insertion, small (<=20) no 6 c.67_68insCC p.Arg23ProfsTer33 2017 28411032
OMIA 001199-10141 domestic guinea pig Brown coat colour MC1R e (MC1R*2) missense no c.749T>C p.Leu250Gln 2018 30101449
OMIA 001199-9870 reindeer Coat colour, extension MC1R missense no c.839T>G p.F280C 2014 25039753
OMIA 001494-9103 turkey Feather colour, black-wing bronze MC1R missense no c.887C>T p.A296V 2010 20634512
OMIA 001494-9103 turkey Bronze feathers MC1R nonsense (stop-gain) no c.96G>A 2010 20634512
OMIA 001435-93934 Japanese quail Feather colour, extended brown MC1R missense no c.?G>A p.E92K 2006 16734695
OMIA 001199-9823 pig Coat colour, black spotting on red or white background MC1R insertion, small (<=20) no nt67insCC 2001 11404341
OMIA 001199-9615 dog Alaskan Husky Siberian Husky White coat colour MC1R e^3 deletion, small (<=20) no CanFam3.1 5 c.816_817delCT 2018 29932470
OMIA 001199-9615 dog Irish Setter Labrador Retriever Red/yellow coat MC1R e^1 nonsense (stop-gain) no CanFam3.1 5 g.63694334G>A c.916C>T p.R306* 2000 10602988 Genomic location provided by Professor Claire Wade
OMIA 001590-9615 dog Leonberger Malinois Black melanistic mask MC1R E^M missense no CanFam3.1 5 g.63694460C>T c.790A>G p.M264V rs24201590 2003 12692165 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. Correction to genomic details provided by Professor Claire Wade.
OMIA 001199-9615 dog Australian Cattle Dog Crean coat colour MC1R e^2 regulatory no CanFam3.1 5 g.63695679C>G 2018 29932470
OMIA 001199-9796 horse Coat colour, chesnut MC1R missense no EquCab2 3 g.36259552C>T c.248C>T p.S83F 1996 8995760 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001199-9796 horse Coat colour, chesnut MC1R missense no EquCab2 3 g.36259554G>A c.250G>A p.D84N 2000 11086549 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001199-9685 domestic cat Kurilian Bobtail Coat colour, copal MC1R e^c deletion, small (<=20) no Felis_catus 8.0 c.640_669del p.(Ala214_Ala223del) Genbank accession no. MK890105 2019 31361350
OMIA 001199-9685 domestic cat Norwegian Forest Coat colour, amber MC1R e missense no Felis_catus_6.2 E2 g.63721093G>A c.250G>A p.D84N 2009 19422360 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001199-9838 Arabian camel White coat colour MC1R missense no KU179867 c.901C>T p.R301C 2018 29893870
OMIA 001199-9913 cattle Angus Holstein-Friesian Icelandic Dominant black MC1R E^D missense no UMD3.1 18 g.14757910T>C c.296T>C p.L99P rs109688013 1995 8535072 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001199-9913 cattle Angus Fleckvieh Red Friesian Recessive red MC1R e deletion, small (<=20) no UMD3.1 18 g.14757924delG c.310delG p.Gly104ValfsX53 rs110710422 1995 8535072 Variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 002043-9913 cattle Belgian Blue Abortion (embryonic lethality), MED22-related MED22 deletion, small (<=20) yes p.Leu38Argfs∗25 2016 27646536
OMIA 001932-9615 dog Swedish Vallhund Progressive retinal atrophy, MERTK-related MERTK insertion, gross (>20) yes CanFam 3.1 17 g.36338043-36338057ins An insertion of "a full-length [6.401 kb] LINE-1 element comprising the 15 bp target site duplication [indicated by 'ins' in the g. notation], a 5’UTR, 900 bp 5’ ORF1, a 49 bp intergenic spacer, a 3,828 bp 3’ ORF2, a 3’UTR and poly(A) tail. The LINE-1 element has been inserted in the same orientation as the MERTK gene.". 2017 28813472 Genomic location provided by Sally Ricketts
OMIA 002153-9615 dog Schnauzer-Beagle cross Neuroaxonal dystrophy MFN2 deletion, small (<=20) yes c.1617_1619delGGA p.Q539del 2011 21643798
OMIA 001106-9913 cattle Tyrolean Grey Axonopathy MFN2 splicing yes UMD3.1 16 g.42562057C>T c.2229C>T "This SNP is located within a putative exonic splice enhancer (ESE) and the variant allele leads to partial retention of the entire intron 19 and a premature stop codon in the aberrant MFN2 transcript" 2011 21526202 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 002197-9796 horse Shetland Pony Mushroom MFSD12 not known no 7 p.(Asp201fs) 2019 Reference not in PubMed; see OMIA 002197-9796 for reference details
OMIA 002197-9615 dog White or cream MFSD12 missense no CanFam3.1 20 g.55,850,145C>T c.151C>T p.(Arg51Cys) 2019 31117290 The cDNA coordinate kindly provided by Tosso Leeb 190523
OMIA 001962-9615 dog Chihuahua Chinese Crested Dog Neuronal ceroid lipofuscinosis, 7 MFSD8 deletion, small (<=20) yes c.843delT p.F282Lfs*13 2015 25551667 Breed and p. information obtained from Katz et al. (2017) Neurobiol Dis. doi: 10.1016/j.nbd.2017.08.017
OMIA 001565-9913 cattle Finnish Ayrshire Abortion and stillbirth due to mutation in MIMT1 MIMT1 deletion, gross (>20) yes a 110 kb deletion in the MIMT1 gene 2010 21152099
OMIA 001401-10036 golden hamster Waardenburg syndrome, type 2A MITF splicing yes A T>A base substitution in intron 6 of MITF leads to the skipping of exon 7 and a premature termination. 2003 12871913
OMIA 000915-93934 Japanese quail Feather colour, silver MITF deletion, small (<=20) no "a two-base deletion resulting in premature termination of the polypeptide in the region following the zipper region" = 2 bp deletion in exon 11 1998 9576828
OMIA 000755-93934 Japanese quail Osteopetrosis MITF deletion, small (<=20) yes same MITF variant as for silver, as reported in 1998 2001 11169846
OMIA 001931-9913 cattle Holstein Depigmentation associated with microphthalmia MITF deletion, gross (>20) yes a de novo deletion of a 19.1 Mb region of BTA22 from 28 835 247-47 983 179 2014 25199536
OMIA 000214-89462 water buffalo Swamp White spotting MITF nonsense (stop-gain) no c.328C>T p.R110* 2015 26417640
OMIA 000214-89462 water buffalo Swamp White spotting MITF splicing no c.840+2T>A 2015 26417640
OMIA 000214-9796 horse American Paint Horse White spotting, blue eyes and deafness MITF deletion, gross (>20) yes 16 g.21503211-21566617del 2019 30644113
OMIA 001401-9823 pig Rongchang Waardenburg syndrome, type 2A MITF insertion, small (<=20) yes 13 g.56482632_56482633insTTTAGTTT 2016 27349893
OMIA 000214-9615 dog Coat colour, white spotting MITF regulatory no CanFam3.1 20 g.21836232_21836427ins>del 2007 17906626 This SINE-insertion variant is the first of three possible regulatory variants described by Karlsson et al. (2007). Its genomic location and description were kindly provided by Professor Claire Wade in August 2018.
OMIA 000214-9796 horse American Standardbred White MITF MITF^244Glu missense no EquCab2 16 g.20094630C>T c.731G>A p.G244E 2017 27592871 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000214-9796 horse Franches-Montagnes Macchiato MITF macchiato missense no EquCab2 16 g.20103081 c.629A>G p.N210S 2012 22511888 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000214-9796 horse Quarter Horse Splashed white MITF SW3 deletion, small (<=20) no EquCab2 16 g.20105348 c.519_523delGTGTC p.C174Sfs*20 2012 22511888 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000214-9796 horse American Miniature Horse American Paint Horse Appaloosa Icelandic Morgan Old-Tori Quarter Horse Shetland Pony Trakehner Splashed white MITF SW1 indel, small (<=20) no EquCab2 16 g.20117302Tdelins11 2012 22511888 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 000214-9796 horse Menorca White splashing MITF regulatory no EquCab2 16 g.20147039C>T 2017 28084638
OMIA 001680-9913 cattle German Fleckvieh Dominant white with bilateral deafness MITF missense yes UMD3.1 22 g.31746502G>T c.629G>T p.R210I 2011 22174915 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001680-9913 cattle Holstein Glass-eyed albino MITF deletion, small (<=20) yes UMD3.1 22 g.31746506_31746508del p.R211del 2017 28904385
OMIA 000214-9913 cattle Holstein Simmental White spotting MITF regulatory no UMD3.1 22 g.31769189A>T c.33+112A>T 2012 22486495 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000214-9913 cattle Brown Swiss White spotting MITF regulatory no UMD_3.1.1 22 g.31790063G>A c.104+53185C>T FN 190425: The Ensembl entry for rs722765315 lists two transcripts: ENSBTAT00000067269.1:c.104+53185C>T and ENSBTAT00000076082.1:c.-53+31498C>T rs722765315 2019 30506810
OMIA 002146-9615 dog Bull Terrier Miniature Bull Terrier Lethal acrodermatitis MKLN1 splicing yes CanFam3.1 14 g.5731405T>G c.400+3A>C p.Gly105SerfsTer10 This variant is "located within the 5’-splice site of intron 4 of the MKLN1 gene" 2018 29565995
OMIA 002145-9544 Rhesus monkey Colorectal cancer, hereditary nonpolyposis, MLH1-related MLH1 nonsense (stop-gain) yes 2 Bray et al. (2018): "a de novo stop codon in the coding region of MLH1. This de novo stop codon occurs in exon 11 out of 19 in the MLH1 gene, and thus would produce a dramatically truncated and possibly non-functional protein" 2018 30108684
OMIA 002145-9544 Rhesus monkey Colorectal cancer, hereditary nonpolyposis, MLH1-related MLH1 deletion, small (<=20) yes 2 g.99,561,829–99,561,830 Brammer et al. (2018): "a heterozygous deletion in the putative promoter region of the MLH1 gene (rheMac2: 2:99,561,829– 99,561,830; hg19: ∼3:37,034,780; c.−258_259)" 2018 29490919
OMIA 001445-93934 Japanese quail Feather colour, lavender MLPH deletion, gross (>20) no a large deletion in the region of the quail MLPH gene 2002 12011184
OMIA 000031-452646 American mink Coat colour, silver-blue MLPH deletion, gross (>20) no deletion of exon 8 2013 23747352
OMIA 000031-9685 domestic cat Coat colour, dilute MLPH deletion, small (<=20) no c.83delT 2006 16860533
OMIA 000031-9913 cattle Belgian Blue Coat colour, cool gray MLPH deletion, small (<=20) no c.87_96del p.Glu32Aspfs*1 2016 26582259
OMIA 001445-9031 chicken Five gray MLPH missense no 7 g.4727070A>G c.1909A>G 2016 27173258
OMIA 000031-9986 rabbit Lionhead Dwarf Loh Netherland Dwarf Coat colour, dilute MLPH deletion, small (<=20) no g.549853delG c.585delG p.L195LfsX123* 2013 24376820
OMIA 000031-9615 dog American Staffordshire terrier Beagle Doberman Pinscher German Pinscher Large Munster-lander Miniature Pinscher Rhodesian Ridgeback Coat colour dilution MLPH d^1 splicing yes CanFam3.1 25 g.48121642G>A c.-22G>A 2007 17519392 Variant coordinates obtained from or confirmed by EBI's Variant Effect Predictor (VEP) tool
OMIA 000031-9615 dog Chow Chow Sloughi Thai Ridgeback Coat colour dilution MLPH d^2 missense yes CanFam3.1 25 g.48150787G>C c.705G>C p.Gln235His 2018 29349785
OMIA 001445-9031 chicken Feather colour, lavender MLPH missense no Gallus_gallus-5.0 7 g.4795061 c.103C>T p.R35W 2008 18197963 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000884-9031 chicken Rose comb MNR2 inversion no a 7.38 Mb inversion 2012 22761584
OMIA 001819-9913 cattle Japanese Black Xanthinuria, type II MOCOS deletion, small (<=20) yes c.769_771delTAC 2000 10801779
OMIA 001819-9913 cattle Tyrolean Grey Xanthinuria, type II MOCOS deletion, small (<=20) yes g.21222030delC c.1881delG and c.1782delG p.Ser628Valfs9* and p.Ser595Va 2016 27919260
OMIA 001541-9913 cattle Fleckvieh Simmental Arachnomelia, BTA23 MOCS1 deletion, small (<=20) yes UMD3.1 23 g.13833868_13833869delCA c.1224_1225delCA rs3835008433 2011 21255426 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001366-9031 chicken Retinal dysplasia and degeneration MPDZ nonsense (stop-gain) yes Galgal4 Z g.30882785C>T c.1372C>T p.R458* 2011 21862650 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002028-9615 dog Italian hound Myeloperoxidase deficiency MPO nonsense (stop-gain) yes c.1987C>T p.R663* 2016 27296514
OMIA 001452-9913 cattle Belgian Blue Tail, crooked MRC2 missense yes UMD3.1 19 g.47734925T>G c.1906T>G p.C636G rs466131011 2012 22497452 Breed and some variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001452-9913 cattle Belgian Blue Tail, crooked MRC2 deletion, small (<=20) yes UMD3.1 19 g.47740473delAG c.2904-2905delAG p.Gly934X 2009 19779552 Breed and some variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 002160-9544 Rhesus monkey Colorectal cancer, hereditary nonpolyposis, MSH6-related MSH6 missense unknown Dray et al. (2018): "a heterozygous missense mutation in MSH6 that has a CADD score of 22.8, indicating that it would be among the <1% most deleterious mutations possible in the human genome (if that variant occurred in the human MSH6 gene" 2018 30108684
OMIA 001538-9796 horse Racing distance MSTN insertion, gross (>20) no 18 A "227 bp SINE insertion positioned upstream of exon 1" 2018 30379863
OMIA 000683-9913 cattle Maine Anjou Muscular hypertrophy (double muscling) MSTN D182N missense yes p.D182N 2002 Reference not in PubMed; see OMIA 000683-9913 for reference details
OMIA 000683-9615 dog Whippet Muscular hypertrophy (double muscling) MSTN deletion, small (<=20) yes 37 c.939_940delTG p.C313* a two-base-pair deletion in the third exon of MSTN leading to a premature stop codon at amino acid 313 2007 17530926
OMIA 001426-9940 sheep Texel Muscular hypertrophy (double muscling), Texel MSTN regulatory yes g+6223G>A c.*1232G>A "G to A transition in the 3' UTR that creates a target site for mir1 and mir206, microRNAs (miRNAs)" 2006 16751773
OMIA 000683-9823 pig Muscular hypertrophy (double muscling) MSTN regulatory yes EF490986-EF490990 g.447A>G 2008 18822098
OMIA 002161-9823 pig Large White Leg weakness, MSTN-related MSTN nonsense (stop-gain) yes Sscrofa11.1 15 g.94623834G>T c.820G>T p.E274* 2019 30699111
OMIA 000683-9913 cattle Angus Limousin Muscular hypertrophy (double muscling) MSTN missense yes UMD 3.1 2 g.6213980A>C c.282C>A p.Phe94Leu rs110065568 1998 9501304 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000683-9913 cattle Blonde d'Aquitaine Charolais Limousin Muscular hypertrophy (double muscling) MSTN nonsense (stop-gain) yes UMD 3.1 2 g.6216138C>T c.610C>T p.Q204* rs110344317 1998 9501304 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000683-9913 cattle Maine Anjou Marchigiana Muscular hypertrophy (double muscling) MSTN nonsense (stop-gain) yes UMD 3.1 2 g.6216204G>T c.676G>T p.E226* 1998 9501304 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000683-9913 cattle Maine Anjou Marchigiana Muscular hypertrophy (double muscling) MSTN nonsense (stop-gain) yes UMD 3.1 2 g.6218432G>T c.1004G>T p.E291* 2013 22497537 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000683-9913 cattle Gelbvieh Muscular hypertrophy (double muscling) MSTN missense yes UMD3.1 2 g.6213889T>C c.191T>C p.L64P rs449270213 2015 25515003 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000683-9913 cattle Parthenaise Muscular hypertrophy (double muscling) MSTN missense yes UMD3.1 2 g.6214012C>G c.314C>G p.Ser105Cys 2002 Reference not in PubMed; see OMIA 000683-9913 for reference details Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000683-9913 cattle Maine Anjou Muscular hypertrophy (double muscling) MSTN nt419(del7-ins10) indel, small (<=20) yes UMD3.1 2 g.6215947 c.419_425del7, c418_426ins10 an insertion/deletion in which 10 unrelated bases are inserted in the place a 7 bases that have been deleted at nucleotide 418 1998 9501304 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000683-9913 cattle Angus Asturiana Belgian Blue Blonde d'Aquitaine Braford Limousin Murray Grey Parthenaise Santa Gertrudis South Devon Muscular hypertrophy (double muscling) MSTN deletion, small (<=20) yes UMD3.1 2 g.6218379delATGAACACTCC c.821-831delTGAACACTCCA p.Glu275ArgfsX14 1997 9288100 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000683-9913 cattle Gasconne Parthenaise Piedmontese Muscular hypertrophy (double muscling) MSTN missense yes UMD3.1 2 g.6218499G>A c.938G>A p.C313Y 1997 9314496 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001561-9615 dog Shar-Pei Periodic Fever Syndrome MTBP missense yes CanFam3.1 13 g.19383758G>A c.2623G>A p.E875K ss2136554981 2017 28472921 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001508-9615 dog Rottweiler Myotubular myopathy 1 MTM1 missense yes c.1151A>C p.Q384P 2015 25664165
OMIA 001508-9615 dog Labrador Retriever Myotubular myopathy 1 MTM1 missense yes c.465C>A p.N155K 2010 20682747
OMIA 000175-9796 horse Arabian Bashkir Curly Horse Trakehner Welsh Pony Cerebellar abiotrophy MUTYH not known yes EquCab 3.0 2 g.13122415G>A A SNP "located in exon 4 of TOE1 and approximately 1200 base pairs upstream of MUTYH, adjacent to a possible binding site for the transcription factor GATA2" (Brault et al., 2011). EquCab3.1 coordinate provided by Meredith O’Connell, working under the supervision of Professor E. Bailey. 2011 21126570
OMIA 001534-9031 chicken Resistance to myxovirus MX1 missense no Gallus_gallus-5.0 1 g.108941567G>A c.1892G>A p.S631N rs313590198 2002 11932243 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001978-9913 cattle Swiss Holstein Arthrogryposis, distal, type 1B MYBPC1 missense yes UMD3.1 5 g.65787153T>G c.884T>G p.L295R 2015 26289121 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000515-9685 domestic cat Maine Coon Cardiomyopathy, hypertrophic MYBPC3 missense yes c.91G>C p.A31P 2005 16236761
OMIA 000515-9685 domestic cat Ragdoll Cardiomyopathy, hypertrophic MYBPC3 missense yes c.??C>T p.R820W 2007 17521870
OMIA 002141-9796 horse Quarter Horse Immune-mediated myositis MYH1 missense yes EquCab3.0 11 g.53345548T>C p.E321G The location of this likely causal variant was given as chr11:52,993,878T>C by Finno et al. (2018) in relation to the EquCab2.0 assembly. Applying NCBI's remap gives the EquCab3.0 coordinate as chr11:53,345,548 2018 29510741
OMIA 002039-9913 cattle Belgian Blue Abortion (embryonic lethality), MYH6-related MYH6 deletion, small (<=20) yes p.Lys1730del 2016 27646536
OMIA 001200-9823 pig Tremor, high-frequency (Campus syndrome) MYH7 insertion, small (<=20) yes c.4320_4321insCCCGCC p.Ala1440_Ala1441insProAla 2012 23153285
OMIA 001608-9615 dog Pug May-Hegglin anomaly MYH9 missense yes p.Q1841L 2011 21554370
OMIA 001501-9796 horse Arabian Lavender foal syndrome MYO5A deletion, small (<=20) yes g.138235715delC 2010 20419149
OMIA 002148-9615 dog Doberman Pinscher Deafness, bilateral, and vestibular dysfunction MYO7A missense yes CanFam3.1 21 g.21,563,111G>A c.3719G>A p.R1240Q 2019 31097876
OMIA 001342-9615 dog Schipperke Mucopolysaccharidosis IIIB NAGLU insertion, gross (>20) yes "a poly(A) insertion (~45 adenines) in the sixth exon of the NAGLU gene. The poly(A) insert is flanked on the 3 border by a 13 bp repeat of the native NAGLU sequence immediately 5 to the poly(A) insert. The insert was found to be polymorphic in the affected individual, differing by the number of adenine residues present. The insert is predicted to lead to the insertion of ~15 lysine residues starting after amino acid 704 of the unmodified protein sequence." 2003 Reference not in PubMed; see OMIA 001342-9615 for reference details
OMIA 001342-8790 emu Mucopolysaccharidosis IIIB NAGLU deletion, small (<=20) yes c.1098_1099delGG 2001 11414757
OMIA 001342-9913 cattle Mucopolysaccharidosis IIIB NAGLU missense yes UMD3.1 19 g.43264699G>A c.1354G>A p.E452K 2007 17458708 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001788-9615 dog Great Dane Rottweiler Leukoencephalomyelopathy NAPEPLD insertion, small (<=20) yes CanFam3.1 18 g.16987327_16987328insC c.345_346insC p.Glu116ArgfsTer186 2018 29643404
OMIA 001788-9615 dog Leonberger Leukoencephalomyelopathy NAPEPLD missense yes CanFam3.1 18 g.16987520G>C c.538 G>C p.Ala180Pro 2018 29643404
OMIA 002189-8932 rock pigeon Barless NDP start-lost no Cliv_1.0 Vickrey et al. (2018): "a nonsynonymous protein-coding change at the start codon of NDP". 2018 30014848
OMIA 002120-9615 dog Greyhound Polyneuropathy NDRG1 deletion, small (<=20) yes c.1080_1089del10 2010 20582309
OMIA 002120-9615 dog Alaskan Malamute Polyneuropathy NDRG1 missense yes CanFam3.1 13 g.29714606G>T c.293G>T p.G98V 2013 23393557 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002137-9615 dog American Bulldog Nemaline myopathy, NEB-related NEB nonsense (stop-gain) unknown CanFam3.1 g.52734272C>A p.S8042* 2016 27215641
OMIA 002198-9615 dog Giant Schnauzer Progressive retinal atrophy, NECAP1-related NECAP1 missense yes CanFam3.1 27 g.37,468,611G>A c.544G>A p.(Gly182Arg) 2019 31117272
OMIA 000545-93934 Japanese quail Quv (quiver) strain Hypotrophic axonopathy NEFL nonsense (stop-gain) yes c.352C>T p.Q114* 1993 8468353
OMIA 001771-7091 domestic silkworm "Ming" lethal egg NEWENTRY complex rearrangement yes an ~1.9 kb region from the 3' untranslated region of BmVMP23 to the forepart of BmEP80 was replaced by a >100 kb DNA fragment 2013 23262333
OMIA 000218-9615 dog Collie eye anomaly NHEJ1 deletion, gross (>20) yes CanFam2 37 g.28697542-28705340del7799 a deletion of 7.8kb in the NHEJ1 gene 2007 17916641
OMIA 000690-9615 dog Beagle Chihuahua Miniature Wirehaired Dachshund Myoclonus epilepsy of Lafora NHLRC1 repeat variation yes 19 to 26 copies of a sequence of 12 nucleotides (12-mer; dodecamer) in the canine EPM2B gene (now called NHLRC1) 2005 15637270
OMIA 002103-9913 cattle Angus Developmental duplications NHLRC2 missense yes UMD3.1 26 g.34618072T>C c.932T>C p.V311A 2014 Reference not in PubMed; see OMIA 002103-9913 for reference details Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001936-9913 cattle Romagnola Cataract, recessive, Romagnola NID1 deletion, gross (>20) yes "an 855 bp deletion across the exon 19/intron 19 border of the bovine nidogen 1 (NID1) gene (c.3579_3604+829del)" 2014 25347398
OMIA 001980-9615 dog American Bulldog American Bully Ichthyosis, NIPAL4-related NIPAL4 deletion, small (<=20) yes CanFam3.1 4 g.52737379delC 2017 28122049
OMIA 000938-9615 dog Weimaraner Spinal dysraphism NKX2-8 indel, small (<=20) yes p.A150VfsX1 2013 23874236
OMIA 001101-9031 chicken Polymorphic Nucleolar (PNU) strain Ribosomal RNA deficiency NOR deletion, gross (>20) yes "Embryos exhibiting a nucleolar phenotype of one large and one very small nucleolus (Pp) are heterozygous for a reduced rDNA cluster (+/p1) and were shown in the present study to contain about 66% of the complement of rRNA genes in normal individuals (+/+) that show two large equal-sized nucleoli (PP)" 1994 8014461
OMIA 000725-9685 domestic cat Niemann-Pick disease, type C1 NPC1 missense yes Felis_catus_6.2 D3 g.47439721G>C c. 2864G>C p.C955S 2003 12809639 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000725-9685 domestic cat Domestic shorthair Niemann-Pick disease, type C1 NPC1 missense yes Felis_catus_6.2 D3 g.47455793A>C c.1322A>C p.H441P 2017 28233346 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002065-9685 domestic cat Niemann-Pick disease, type C2 NPC2 splicing yes Felis_catus_6.2 B3 g.120939103G>A c.82+5G>A p.G28_S29ins35 2014 25396745 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001455-9615 dog Miniature Wirehaired Dachshund Standard wire-haired dachshund Cone-rod dystrophy, Standard Wire-haired Dachshund NPHP4 deletion, gross (>20) yes "a 180-bp deletion in exon/intron 5 of NPHP4 (nephronophthisis 4, also known as nephroretinin)" 2008 18687878
OMIA 002117-9615 dog Labrador Retriever CHILD-like syndrome NSDHL deletion, gross (>20) yes CanFam3.1 X g.120,749,179_120,763,577del14 2017 28739597
OMIA 002185-9685 domestic cat Domestic Shorthair Inflammatory linear verrucous epidermal nevi NSDHL missense yes FelCat 9.0 X c.397A>G p.Ser133Gly De Lucia et al. (2019): XM_004000985.5:c.397A>G; XP_004001034.1:p.(Ser133Gly) 2019 30474267
OMIA 002035-9913 cattle Jersey Abortion (embryonic lethality), OBFC1-related OBFC1 deletion, small (<=20) yes 26 g.24720155_24720156delAA c.379_380delAA p.Lys127Valfs∗28 2016 27646536
OMIA 002130-94885 corn snake Coat colour, oculocutaneous albinism, OCA2-related OCA2 insertion, gross (>20) yes LTR retrotransposon in the 11th intron 2015 26597053
OMIA 002130-9615 dog German Spitz Coat colour, oculocutaneous albinism, OCA2-related OCA2 splicing yes CanFam3.1 3 g.31715704A>C "LOC100855460 (XM_005618224.1:c.377+2T>G LT844587.1:c.-45+2T>G) . . . Comparative sequence analyses revealed that LOC100855460 actually represents the 5'-end of the canine OCA2 gene. The CanFam 3.1 reference genome assembly is incorrect and separates the first two exons from the remaining exons of the OCA2 gene. We amplified a canine OCA2 cDNA fragment by RT-PCR and determined the correct full-length mRNA sequence (LT844587.1)." 2017 28973042
OMIA 000162-9913 cattle Red Holstein Cardiomyopathy, dilated OPA3 nonsense (stop-gain) yes UMD 3.1 18 g.53546443C>T c.343C>T p.Q115* 2011 20923700 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001564-9615 dog Greater Swiss Mountain Bleeding disorder, P2RY12-related P2RY12 deletion, small (<=20) yes "a 3 base-pair deletion predicted to result in elimination of a serine from the extracellular domain was identified in the gene encoding P2RY12" 2011 21554368
OMIA 001437-9913 cattle Brown Swiss Beta-lactoglobulin, aberrant low expression PAEP regulatory yes UMD3.1 11 g.103301704 c.-215C>A "C to A transversion at position 215 bp upstream of the translation initiation site" 2006 17033029 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001688-9796 horse Lipizzan Noriker Quarter Horse Splashed white PAX3 SW2 missense no EquCab2 6 g.11429753G>A c.209G>A p.C70Y 2012 22511888 Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124
OMIA 001688-9796 horse Appaloosa Splashed white PAX3 missense no EquCab2.0 6 g.11429867G>C c.95C>G p.Pro32Arg 2013 23659293
OMIA 001314-9615 dog Cardigan Welsh Corgi Rod-cone dysplasia 3 PDE6A deletion, small (<=20) yes c.1940delA p.Asn616fs "deletion of a single base in codon 616 of the gene for the alpha subunit of cyclic guanosine monophosphate (cGMP) phosphodiesterase (PDE6A), which is "predicted to lead to a frame shift resulting in a string of 28 altered codons followed by a premature stop codon" 1999 10393029 Variant information gleaned from or confirmed by Donner et al. (2016) PLoS One 11:e0161005
OMIA 001669-9615 dog Sloughi Rod-cone dysplasia 1a PDE6B insertion, small (<=20) yes "an 8-bp insertion after codon 816" of the PDE6B gene 2000 11124530
OMIA 001674-9615 dog American Staffordshire terrier Cone-rod dystrophy 1 PDE6B deletion, small (<=20) yes CanFam 2 3 g.94574289_94574291 c.2404_2406del p.802del 2013 24045995
OMIA 000882-9615 dog Irish Setter Rod-cone dysplasia 1 PDE6B nonsense (stop-gain) yes CanFam3.1 3 g.91747713G>A c.2421G>A p.W807* 1993 8387203 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002163-9544 Rhesus monkey Cone dystrophy 4, PDE6C-related PDE6C missense yes Mmul_8.0.1 9 p.R565Q 2019 30667376
OMIA 001406-9615 dog Clumber Spaniel Sussex Spaniel Pyruvate dehydrogenase deficiency PDP1 nonsense (stop-gain) yes c.754C>T p.Q252* 2007 17095275
OMIA 000913-9031 chicken Silky/Silkie Silky/Silkie feathering PDSS2 PDSS2(-103C-G) regulatory unknown Gallus_gallus-5.0 3 g.68009144C>G c.-103C>G Feng et al. (2014): "a C to G transversion at 70,486,623 bp (ss666793747)" "The ss666793747 mutation is 103 bp upstream of the initiator codon ATG of PDSS2". The reported location was with respect to the galGal2 assembly. In the intervening years, ss666793747 has become rs316090093, from which the present location is taken. rs316090093 2014 25166907
OMIA 001827-9913 cattle Montbeliarde Abortion due to haplotype MH1 PFAS missense yes UMD3.1 19 g.28511199C>T c.3613C>T p.R1205C rs455876205 2017 28803020 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000421-9615 dog American cocker spaniel English Springer Spaniel Whippet Glycogen storage disease VII PFKM nonsense (stop-gain) yes c.2228G>A p.W???* 1996 8702726
OMIA 000421-9615 dog Wachtelhund Glycogen storage disease VII PFKM missense yes c.550C>T p.R184W 2012 22446493
OMIA 001953-9913 cattle Belgian Blue Arthrogryposis, lethal syndrome PIGH splicing yes UMD3.1.1 10 g.79814520C>G c.211-10C>G rs451004237 2015 25895751 Variant information gleaned from or confirmed by Table 1 of  Sharma et al. (2017) Animal Genetics 48(3):369-370
OMIA 002084-9615 dog Soft Coated Wheaten Terrier Dyskinesia, paroxysmal, PIGN PIGN missense yes CanFam3.1 1 g.14705240C>T c.398C>T p.T133I 2016 27891564 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000649-9940 sheep Texel Microphthalmia PITX3 missense yes Oar_v3.1 22 g.22045744G>C c.338G>C p.R113P 2010 20084168 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000807-9685 domestic cat Polycystic kidney disease PKD1 nonsense (stop-gain) yes c.10063C>A p.?3284* 2004 15466259
OMIA 000807-9615 dog Bull Terrier Polycystic kidney disease PKD1 missense yes CanFam3.1 6 g.38856816G>A c.9559G>A p.E3187K rs397509460 2011 21818326 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000844-9615 dog Basenji Pyruvate kinase deficiency of erythrocyte PKLR deletion, small (<=20) yes a single base-pair deletion in exon 5 of the gene encoding R-type pyruvate kinase (PKLR) 1994 7520391
OMIA 000844-9615 dog West Highland White terrier Pyruvate kinase deficiency of erythrocyte PKLR insertion, small (<=20) unknown a 6 base pair insertion in exon 10 1999 10490091
OMIA 000844-9685 domestic cat Domestic shorthair Pyruvate kinase deficiency of erythrocyte PKLR splicing yes c.693+304G>A 2012 23110753
OMIA 000844-9615 dog Pug Pyruvate kinase deficiency of erythrocyte PKLR missense yes c.848T>C p.V283A 2012 22805166
OMIA 000844-9615 dog Beagle Pyruvate kinase deficiency of erythrocyte PKLR missense yes c.994G>A p.G332S 2012 22805166
OMIA 000844-9615 dog Labrador Retriever Pyruvate kinase deficiency of erythrocyte PKLR nonsense (stop-gain) yes g.42268632 c.799C>T p.Q267* 2012 22805166 20181218 Thanks to Maarten de Groot for advising FN of the genomic location
OMIA 001864-9615 dog Chesapeake Bay Retriever Golden Retriever Ectodermal dysplasia/skin fragility syndrome PKP1 splicing yes CanFam3.1 7 g.1966531G>C c.202+1G>C 2012 22384142 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002105-9615 dog Papillon Neuroaxonal dystrophy, PLA2G6-related PLA2G6 missense yes CanFam3.1 10 g.26544820G>A c.1579G>A p.T527A 2017 28107443 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001935-9913 cattle Fleckvieh Zinc deficiency-like syndrome PLD4 nonsense (stop-gain) yes UMD3.1 21 g.71001232G>A c.702G>A p.W234* rs378824791 2014 25052073 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; rsID gleaned from or confirmed by Table 1 of  Sharma et al. (2017) Animal Genetics 48(3):369-370
OMIA 002080-9615 dog Eurasier Epidermolysis bullosa, simplex, PLEC PLEC nonsense (stop-gain) yes CanFam3.1 13 g.37461941G>A c.3614G>A p.W1205* 2016 27878870 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002020-9615 dog Scottish Terrier Ligneous membranitis PLG splicing yes c.1256+2T>A 2015 26360520
OMIA 002195-9615 dog Welsh springer spaniel Cardiomyopathy, dilated, PLN-related PLN missense yes 1 g.58,588,129G>A c.26G>A p.(R9H) 2019 30794913 c. coordinate kindly provided by Tosso Leeb
OMIA 001982-9796 horse Warmblood Ehlers-Danlos Syndrome, type VI PLOD1 missense yes EquCab2 2 g.39711930G>A c.2032G>A p.G678R 2015 25637337 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000770-9986 rabbit Tremor, X-linked PLP1 missense yes T>A 1994 7525875
OMIA 000770-9615 dog Springer Spaniel Tremor, X-linked PLP1 missense yes CanFam3.1 X g.77200833A>C c.110A>C p.H37P 1990 1723945 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000373-9031 chicken Feather colour, dominant white PMEL I insertion, small (<=20) no a 9-bp (3aa) insertion (WAP) after amino acid 610 in exon 10 2004 15579702
OMIA 000373-9031 chicken Feather colour, Dun PMEL deletion, small (<=20) no "a deletion of five amino acids in the transmembrane region" 2004 15579702
OMIA 000373-9031 chicken Feather colour, Smoky PMEL deletion, small (<=20) no “The Smoky allele shared the 9-bp insertion in exon 10 with Dominant white, as expected from its origin, but also had a deletion of 12 nucleotides in exon 6, eliminating four amino acids from the mature protein” 2004 15579702
OMIA 000211-9615 dog Coat colour, merle PMEL insertion, gross (>20) yes "an insertion of a tRNA-derived SINE . . . . The insertion occurs at the boundary of intron 10 and exon 11 and is flanked by a 15-bp target site duplication . . . . The SINE insertion is in reverse orientation, with the 5' end closer to exon 11." 2006 16407134
OMIA 001545-30521 domestic yak Coat colour, dilution PMEL deletion, small (<=20) no c.50_52del p.Leu18de 2014 24989079
OMIA 001438-9796 OMIA 000733-9796 horse American Miniature Horse Icelandic Rocky Mountain Coat colour, silver AND Multiple congenital ocular anomalies PMEL missense no g.73665304C>T p.R625C 2006 17029645
OMIA 002191-93934 Japanese quail Yellowish plumage PMEL nonsense (stop-gain) no g.811370G>A Trp149* Ishishita et al. (2018): g.811370G>A (NC_029544.1); Trp149* 2018 30425278
OMIA 001545-9913 cattle Charolais Galloway Hereford Highland Simmental Coat colour, dilution PMEL deletion, small (<=20) no UMD3.1 5 g.57669913_57669915delTTC c.50_52delTTC p.Leu19del rs385468954 2008 18408794 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001545-9913 cattle Charolais Coat colour, dilution PMEL missense no UMD3.1 5 g.57669926G>A c.64G>A p.Gly22Arg rs718553050 2007 17705851 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 002183-9823 pig Landrace Embryonic lethality PNKP missense yes Sscrofa11.1 6 g.54880241G>T p.Gln96Arg Derks et al. (2019): "deleterious missense mutation in the PNKP gene (6:g.54880241G>T), predicted to be strongly deleterious by SIFT (0.02) and PROVEAN (-2.9). The missense mutation causes a glutamine to arginine amino acid substitution (ENSSSCP00000003467:p.Gln96Arg)" 2019 30875370
OMIA 001588-9615 dog Golden Retriever Ichthyosis, PNPLA1-related PNPLA1 indel, small (<=20) yes c.1445_1447delinsTACTACTA p.N482Ifs*11 2012 22246504
OMIA 000827-9913 cattle Brown Swiss Carora Progressive degenerative myeloencephalopathy (Weaver syndrome) PNPLA8 missense yes UMD3.1 4 g.49878773G>A c.1703G>A p.S568N rs800397662 2016 26992691 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000483-30521 domestic yak Polled, Mongolian allele POLLED P[sub]M or P[sub]219ID complex rearrangement no "a complex 219-bp duplication-insertion (P219ID) beginning at 1,976,128 bp and a 7-bp deletion and 6-bp insertion (P1ID) located 621 bp upstream of this position . . . . This rearrangement results in duplication of an 11-bp motif (5'-AAAGAAGCAAA-3') that is entirely conserved among Bovidae . . . and that is also duplicated in the 80-kb duplication responsible for Friesian polledness" 2017 28135247
OMIA 000483-9913 cattle Nellore Polled, Guarani POLLED P[sub]G duplication no UMD v3.1.1 1 g.1,893,790–2,004,553 "a novel duplication variant" in the region BTA1:1,893,790–2,004,553 (Utsunomiya et al., (2019) 2019 30644114
OMIA 000483-9913 cattle Polled, Celtic POLLED P[sub]C OR P[sub]202ID complex rearrangement no UMD3.1 1 g.1706051_1706060 delins170583 "a duplication of 212 bp replacing a segment of 10 bp" (Allais-Bonnet et al., 2013) in a region with no known genes or expressed sequence tags. Celtic = breeds of European origin, e.g. Charolais. In relation to assembly UMD v3.1.1, Utsunomiya et al. (2019) described this variant as "a duplication of CHR1:1,705,834–1,706,045". 2012 22737241
OMIA 000483-9913 cattle Mongolian Turano Polled, Mongolian allele POLLED P[sub]M OR P[sub]219ID complex rearrangement no UMD3.1 1 g.1976128_?? "a complex 219-bp duplication-insertion (P219ID) beginning at 1,976,128 bp and a 7-bp deletion and 6-bp insertion (P1ID) located 621 bp upstream of this position . . . . This rearrangement results in duplication of an 11-bp motif (5'-AAAGAAGCAAA-3') that is entirely conserved among Bovidae . . . and that is also duplicated in the 80-kb duplication responsible for Friesian polledness" In relation to assembly UMD v3.1.1, Utsunomiya et al. (2019) described this variant as "a complex duplication starting at CHR1:1,976,128". 2017 28135247
OMIA 000483-9913 cattle Friesian Polled, Friesian allele POLLED P[sub]F OR P(sub)80kbID duplication no UMD3.1.1 1 g.1909352_1989480dup In relation to assembly UMD v3.1.1, Utsunomiya et al. (2019) described this variant as "a duplication of CHR1:1,909,352–1,989,480". 2013 23717440
OMIA 002181-9823 pig Landrace Embryonic lethality POLR1B splicing yes Sscrofa11.1 3 g.43952776T>G Derks et al. (2019): "Skipping of exon 14 introduces a glutamic acid and a premature stop codon in the second codon of the terminal exon, lacking the final 370 amino acids located in the conserved subunit 2, hybrid-binding domain (binding to the DNA strand)" 2019 30875370
OMIA 001258-9615 dog Labrador Retriever Obesity POMC deletion, small (<=20) yes CanFam3.1 17 g.19431807_19431821del p.E188fs 2016 27157046
OMIA 001579-9823 pig Chinese Erhualian Large floppy ears PPARD missense no Sscrofa10.2 7 g.36155054G>A c.95G>A p.G32E 2011 21573137 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000327-9796 horse American Quarter Horse Ehlers-Danlos syndrome PPIB missense yes EquCab2 1 g.128056148G>A c.115G>A p.G39R 2007 17498917 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000161-9913 cattle Polled Hereford Cardiomyopathy and woolly haircoat syndrome PPP1R13L insertion, small (<=20) yes UMD3.1 18 g.53440861-53440867dupACAGGCG c.956-962dupACAGGCG p.Gly335GlufsX36 2009 19016676 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001504-9615 dog Dachshund Neuronal ceroid lipofuscinosis, 1 PPT1 insertion, small (<=20) yes c.736-737insC p.F246Lfs*29 2010 20494602 p. information obtained from Katz et al. (2017) Neurobiol Dis. doi: 10.1016/j.nbd.2017.08.017
OMIA 001311-9615 dog Miniature Schnauzer Photoreceptor dysplasia PPT1 PPT1^dci complex rearrangement yes CanFam3.1 15 g.2,874,661_2,875,048con2,877,563-2,877,607inv 2019 30541930
OMIA 001504-9615 dog Italian Cane Corso Neuronal ceroid lipofuscinosis, 1 PPT1 splicing yes CanFam3.1 15 g.2860424 c.124 + 1G>A 2017 28008682
OMIA 001298-9615 dog American cocker spaniel Australian Cattle Dog Australian Shepherd Australian stumpy tail cattle dog Chesapeake Bay Retriever Chinese Crested Dog English Cocker Spaniel Entlebucher mountain dog Finnish Lapphund Golden Retriever Karelian bear dog Kuvasz Labrador Retriever Lapponian Herder Miniature Poodle Norwegian Elkhound Nova Scotia Duck Tolling retriever Portugese water dog Spanish water dog Swedish Lapphund Toy Poodle Yorkshire Terrier Progressive rod-cone degeneration PRCD missense yes CanFam3.1 9 g.4188663G>A c.5G>A p.C2Y 2006 16938425 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001085-9823 pig Meat quality (Rendement Napole) PRKAG3 missense yes p.V199I 2001 11729159
OMIA 001085-9823 pig Meat quality (Rendement Napole) PRKAG3 missense yes Sscrofa10.2 15 g.133803832G>A c.599G>A p.R200Q 2000 10818001 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000220-9615 dog Jack Russell Terrier Severe combined immunodeficiency disease, autosomal PRKDC nonsense (stop-gain) yes c.10879G>T p.E3627* 2002 11867233
OMIA 000220-9796 horse Arabian Severe combined immunodeficiency disease, autosomal PRKDC deletion, small (<=20) yes Ecab3.0 9 g.36395752_36395759del c.9478_9482del p.N3160fs*3 A 5bp deletion giving rise to a frameshift in PRKDC The following details (from which the coordinate fields were populated) were provided by Meredith O’Connell, Tanya German, Isabella Pisani and Karalie Andrews, under the supervision of Professor Ernie Bailey. 20 Feb 2019 NC_009152.3 g.36395752-36395976del; NM_001163858 c.9478_9482del; NP_001157330 p.N3160fs*3 1997 9103416
OMIA 001485-9913 cattle Angus Dwarfism, Angus PRKG2 nonsense (stop-gain) yes UMD 3.1 6 g.97667351C>T c.1573C>T p.R525* rs109639251 2009 19887637 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001485-9913 cattle Angus Dwarfism, Angus PRKG2 nonsense (stop-gain) yes UMD3.1 6 g.97667351 c.2032C>T p.R678* 2009 19887637 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000441-9913 cattle Fleckvieh Holstein-Friesian Jersey Hairy PRL missense no UMD3.1 23 g.35105313A>C c.661A>C p.C221G 2014 25519203 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000380-9031 chicken Feathering, Z-linked PRLR insertion, gross (>20) no The tandem duplication of this region results in the partial duplication of two genes; the prolactin receptor and the gene encoding sperm flagellar protein 2. 2008 18713476
OMIA 000380-9103 turkey Commercial lines Feathering, Z-linked PRLR deletion, small (<=20) unknown Melgal5 Z g.9426018_9426022delTTGGT p.Glu726Aspfs*7 2018 29566646
OMIA 001372-9913 cattle Carora Romosinuano Senepol Slick hair PRLR deletion, small (<=20) no UMD3.1 20 g.39136559delC p.Leu462* ss1067289408 2014 25519203 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; some variant information gleaned from or confirmed by Table 1 of  Sharma et al. (2017) Animal Genetics 48(3):369-370
OMIA 001372-9913 cattle Limonero Slick hair PRLR nonsense (stop-gain) no UMD3.1 20 g.39136571C>A p.Ser465∗ 2018 29527221
OMIA 001372-9913 cattle Carora Limonero Slick hair PRLR nonsense (stop-gain) no UMD3.1 20 g.39136666C>T p.Arg497∗ 2018 29527221
OMIA 000944-9925 goat Spongiform encephalopathy (scrapie) PRNP missense yes p.G127S 2011 22040234
OMIA 000944-9925 goat Spongiform encephalopathy (scrapie) PRNP missense yes p.H154R 2009 19218225
OMIA 000944-9925 goat Spongiform encephalopathy (scrapie) PRNP missense yes p.I142M 1996 8922485
OMIA 000944-9925 goat Spongiform encephalopathy (scrapie) PRNP missense no p.N146D 2007 16314132
OMIA 000944-9925 goat Spongiform encephalopathy (scrapie) PRNP missense no p.N146S 2007 16314132
OMIA 000944-9925 goat Spongiform encephalopathy (scrapie) PRNP missense yes p.Q211R 2009 19218225
OMIA 000944-9925 goat Spongiform encephalopathy (scrapie) PRNP missense yes p.Q222K 2006 16603543
OMIA 000944-9940 sheep Ile de France Romanov Spongiform encephalopathy (scrapie) PRNP V missense yes Oarv3.1 13 g.46225660C>T c.407C>T p.A136V rs591379086 1993 8094373 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000944-9940 sheep Norwegian breeds Spongiform encephalopathy (scrapie), Nor98 type PRNP F missense yes Oarv3.1 13 g.46225674C>T c.421C>T p.L141F rs598580733 2005 15604451 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000944-9940 sheep Ile de France Romanov Spongiform encephalopathy (scrapie) PRNP H missense yes Oarv3.1 13 g.46225714G>A c.461G>A p.R154H rs605048948 1993 8094373 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000944-9940 sheep Suffolk Spongiform encephalopathy (scrapie) PRNP Q missense yes Oarv3.1 13 g.46225765G>A c.512G>A p.R171Q rs160575103 1990 1969635 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000944-9913 cattle Numerous breeds Spongiform encephalopathy (mad cow disease) PRNP missense yes UMD3.1 13 g.47415059G>A c.631G>A p.E211K 2008 18787697 Genomic coordinates obtained from EBI's VEP
OMIA 001454-9615 dog Great Dane Harlequin PSMB7 missense no c.146T>G p.V6G 2011 21256207
OMIA 001515-9615 dog Great Dane Colorectal hamartomatous polyposis and ganglioneuromatosis PTEN insertion, gross (>20) yes "Duplication of PTEN" 2011 20952721
OMIA 002196-9615 dog Doberman Pinscher Deafness, unilateral and vestibular dysfunction PTPRQ insertion, small (<=20) yes CanFam3 15 g.22989894insA p.Asn2032LysfsTer24 2018 29460419
OMIA 001139-9940 sheep Glycogen storage disease V PYGM splicing yes a G>A substitution at the 3' splice site of intron 19 1997 9267848
OMIA 001139-9913 cattle Charolais Glycogen storage disease V PYGM missense yes UMD3.1 29 g.43611783 c.1468C>T p.R490W 1996 8845714 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001913-9615 dog Gordon Setter Old English Sheepdog Ataxia, cerebellar, in Old English Sheepdogs and Gordon Setters RAB24 missense yes CanFam3.1 4 g.36055678A>C c.113A>C p.Q38P 2014 24516392 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001970-9615 dog Alaskan Husky Polyneuropathy, ocular abnormalities and neuronal vacuolation RAB3GAP1 insertion, gross (>20) yes a 218 bp SINE insertion into exon 7 of the RAB3GAP1 gene (RAB3GAP1:c.614_615insLN864704:g.123_340) 2015 26596647
OMIA 001970-9615 dog Black Russian Terrier Polyneuropathy, ocular abnormalities and neuronal vacuolation RAB3GAP1 deletion, small (<=20) yes c.743delC 2016 26607784
OMIA 002037-9913 cattle Holstein-Friesian Abortion (embryonic lethality), RABGGTB RABGGTB missense yes UMD3.1 3 g.69318970A>G c.584A>G p.Y195C 2016 27646536 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001574-9615 dog Frisian Water Dog Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive RAG1 nonsense (stop-gain) yes CanFam3.1 18 g.31631772G>T c.2893G>T p.E965* 2011 21293384 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001806-9615 dog Coat colour, black-and-tan RALY duplication no CanFam3.1 24 g.23252754_23252770dupCCCCAGGTCAGAGTTT 2013 23519866 Genomic location and details kindly provided by Professor Claire Wade in August 2018
OMIA 001003-9615 dog Eskimo Spitz Thrombopathia RASGRP1 insertion, small (<=20) yes c.452-453insA 2007 17656327
OMIA 001003-9615 dog Landseer Thrombopathia RASGRP1 nonsense (stop-gain) yes c.982C>T p.R328* 2007 17656327
OMIA 001003-9615 dog Basset Hound Thrombopathia RASGRP1 deletion, small (<=20) yes g.509510511delTCT 2008 18922051
OMIA 001003-9913 cattle Fleckvieh Simmental Thrombopathia RASGRP2 missense yes UMD3.1 29 g.43599204T>C c.701T>C p.L234P rs385444696 2007 18039909 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 000876-9031 chicken Riboflavinuria RBP splicing yes A "deletion in the rd ribBP cDNA correspond[ing] precisely to an exon. The splice site following this exon contains a G-->A mutation at position 1 of the downstream 5'-splice donor sequence. 1993 8226844
OMIA 002151-9615 dog Irish soft-coated wheaten terrier Microphthalmia, isolated, with coloboma RBP4 deletion, small (<=20) yes CanFam3.1 28 c.282_284del p.K30del 2018 29847795
OMIA 001260-9615 dog Collie Rod-cone dysplasia 2 RD3 insertion, gross (>20) yes "22 bp insertion changes the last 61 amino acids of the encoded protein" 2009 19130129
OMIA 001867-9940 sheep Churra Lissencephaly and cerebellar hypoplasia RELN deletion, gross (>20) yes a deletion of 31 bp (c.5410_5440del) in predicted exon 36 of RELN, resulting in a premature termination codon 2013 24260534
OMIA 001346-9615 dog English Mastiff Autosomal dominant PRA RHO missense yes CanFam3.1 20 g.5637394C>G c.11C>G p.T4R 2002 11972042 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001901-9913 cattle Nordic Red Abortion due to deletion of RNASEH2B RNASEH2B deletion, gross (>20) yes A 662kb deletion encompases the gene RNASEH2B, lack of which creates embryonic lethality 2014 24391517
OMIA 001686-9913 cattle Belgian Blue Dwarfism, proportionate, with inflammatory lesions RNF11 splicing yes UMD3.1 3 g.95601696A>G c.124-2A>G 2012 22438830 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 002038-9913 cattle Holstein-Friesian Abortion (embryonic lethality), RNF20 RNF20 nonsense (stop-gain) yes UMD3.1 8 g.92930920A>T c.2077A>T p.K693* 2016 27646536 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002029-9913 cattle Angus Beef Booster Composite Belgian Blue Charolais Gelbvieh Holstein Maine Anjou Normande Red Angus Retinitis pigmentosa 1 RP1 insertion, small (<=20) yes UMD3.1 14 g.23995411_23995412insA p. R791KfsX13 2016 27510606
OMIA 002134-9913 cattle Ayrshire Abortion due to haplotype AH2 RPAP2 splicing yes 3 g.51267548 2017 Reference not in PubMed; see OMIA 002134-9913 for reference details
OMIA 001222-9615 dog Briard Leber congenital amaurosis (congenital stationary night blindness) RPE65 deletion, small (<=20) yes 4bp deletion in RPE65 1998 9808841
OMIA 001518-9615 dog Mongrel Progressive retinal atrophy, X-linked, type 2 RPGR deletion, small (<=20) yes "a two-nucleotide deletion (delGA) in 1084-1085" in the canine RPGR gene 2002 11978759
OMIA 000831-9615 dog Weimaraner Progressive retinal atrophy, X-linked, type 1 RPGR deletion, gross (>20) yes "a large deletion [maximum size 5,006 bp] comprising the first four exons of the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene" 2016 27398221
OMIA 000831-9615 dog Samoyed Siberian Husky Progressive retinal atrophy, X-linked, type 1 RPGR deletion, small (<=20) yes c.1028_1032delGAGAA a "five-nucleotide deletion (delGAGAA) between 1028 and 1032" in the canine RPGR gene 2002 11978759
OMIA 001432-9615 dog Miniature Long-haired Dachsund Cone-rod dystrophy 4 RPGRIP1 insertion, gross (>20) yes a 44-bp insertion in exon 2 of the RPGRIP1 gene 2006 16806805
OMIA 002041-9913 cattle Belgian Blue Abortion (embryonic lethality), RPIA-related RPIA splicing yes UMD3.1 11 g.47223666 c.826+1G>A 2016 27646536 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001531-9615 dog Furnishings (moustache and eyebrows) RSPO2 insertion, gross (>20) no a 167bp insertion "within the 3'UTR at position 11,634,766", which leads to a threefold increase in transcription of RSPO2 in muzzle skin of dogs with furnishings 2009 19713490
OMIA 001498-9615 dog Portugese water dog Improper coat RSPO2 insertion, gross (>20) yes "167 bp 3' UTR insertion in RSPO2" 2010 20562213
OMIA 000483-9940 sheep Numerous breeds Polled RXFP2 insertion, gross (>20) unknown "1833-bp genomic insertion located in the 30-UTR region of RXFP2 present in polled animals only" 2015 26103004
OMIA 000621-9796 horse American Quarter Horse Malignant hyperthermia RYR1 missense yes c.7360C>G p.R2454G 2004 15318347
OMIA 000621-9615 dog Collie Doberman German Shepherd Dog Labrador Retriever Malignant hyperthermia RYR1 missense yes A302128 1 c.1640T>C p.V547A 2001 11575546
OMIA 000621-9823 pig Malignant hyperthermia RYR1 missense yes Sscrofa10.2 6 g.42868983C>T c.1423C>T p.R475C 1991 1862346 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001876-9615 dog Basenji Progressive retinal atrophy, Basenji SAG extension (stop-lost) yes CanFam3.1 25 g.44843440T>C c.1216T>C p.*405Rext*25 2013 24019744 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002016-9615 dog Wirehaired Fox Terrier Van den Ende-Gupta syndrome SCARF2 deletion, small (<=20) yes c.865_866delTC p.S289Gfs*15 2016 27187611
OMIA 000785-9796 horse Quarter Horse HYPP SCN4A H missense yes Ecab3.0 g.15474228C>G c.4248C>G p.F1416L ECA11 (NC_009154.3) g.15474228C>G; NM_001081761.1: c.4248C>G; NP_001075230.1: F1416L; Sift Score 0.01. The above information (from which the coordinate fields were populated) was provided by Tatyana German and Meredith O’Connell, working under the supervision of Professor Ernie Bailey. rs1148998534 1992 1338908
OMIA 002194-9615 dog Alpine Dachsbracke Ataxia, spinocerebellar, SCN8A-related SCN8A missense yes CanFam3.1 and NCBI annotation release 105 27 g.3,179,029C>A c.4898G>T p.Gly1633Val
Reference not in PubMed; see OMIA 002194-9615 for reference details
OMIA 002149-9913 cattle Holstein Abortion due to haplotype HH6 SDE2 start-lost yes UMD3.1 16 g.29773628A>G "This A-to-G transition changes the initiator ATG (methionine) codon to ACG because the gene is transcribed on the reverse strand. . . . Initiation of translation at the closest in-frame Met codon would truncate SDE2 by 83 amino acids, including an 8-amino acid motif conserved among eukaryotes" rs434666183 2018 29680649
OMIA 001692-9615 dog Finnish Hound Ataxia, cerebellar, progressive early-onset SEL1L missense yes CanFam3.1 8 g.53778458T>C c.1972T>C p.S658P 2012 22719266 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001897-9796 horse Connemara pony Hoof wall separation syndrome SERPINB11 insertion, small (<=20) yes EquCab2 8 g.80111598_80111599insC c.504_505insC 2015 25875171
OMIA 001483-9615 dog Dachshund Osteogenesis imperfecta_Dachshund SERPINH1 missense yes c.977T>C p.L326P 2009 19629171
OMIA 001483-9615 dog Dachshund Osteogenesis imperfecta_Dachshund SERPINH1 missense yes CanFam3.1 21 g.23033735T>C c.977T>C p.L326P 2009 19629171 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000162-10036 golden hamster Cardiomyopathy, dilated SGCD deletion, gross (>20) yes genomic deletion was found to be located at 6.1 kb 5' upstream of the second exon of δ-SG gene, and its 5' upstream region of more than 27.4 kb, including the authentic first exon of δ-SG gene, was deleted 1997 9391120
OMIA 000515-10036 golden hamster Cardiomyopathy, hypertrophic SGCD deletion, gross (>20) yes a large deletion in the delta-SG gene 1997 9097966
OMIA 002122-9615 dog Boston Terrier Muscular dystrophy, limb-girdle, type 2F SGCD deletion, small (<=20) yes CanFam3.1 4 c.534_535delGA 2017 28702169
OMIA 002122-9615 dog Boston Terrier Muscular dystrophy, limb-girdle, type 2F SGCD indel, gross (>20) yes CanFam3.1 4 g.53262018_53262020delinsCC; g g.53262018_53262020delinsCC; g.53262030_53281432del 2017 28702169
OMIA 001279-9615 dog Scottish Deerhound Hypotrichosis, recessive SGK3 insertion, small (<=20) yes CanFam 3.1 29 g.16,351,976 c.137_138insT p.Glu47GlyfsTer3 Hytönen and Lohi (2019) Supplementary material 3: ENSCAFT00000011773.3:c.137_138insT; p.Q47fs 2019 30927068
OMIA 001279-9615 dog American hairless Hypotrichosis, recessive SGK3 deletion, small (<=20) yes CanFam3.1 29 g.16366702_16366705delTTAG p.Val96GlyfsTer50 2017 27994129
OMIA 001309-9615 dog New Zealand Huntaway dog Mucopolysaccharidosis IIIA SGSH insertion, small (<=20) yes c.708-709insC 2002 11829484
OMIA 001309-9615 dog Dachshund Mucopolysaccharidosis IIIA SGSH deletion, small (<=20) yes c.737-739delCCA 2000 10950929
OMIA 000810-9685 domestic cat Polydactyly SHH regulatory yes c.257G>C CC(G-C)GTG 2008 18156157
OMIA 000810-9685 domestic cat Polydactyly SHH regulatory yes c.479A>G AGACAC(A-G)GAAATGAG 2008 18156157
OMIA 000810-9685 domestic cat Polydactyly SHH regulatory yes c.481A>T AGACACAG(A-T)AATGAG 2008 18156157
OMIA 002013-9796 horse Shetland Pony Skeletal atavism SHOX deletion, gross (>20) yes "two partially overlapping large deletions [are] in the pseudoautosomal region (PAR) of chromosome X/Y"; "One of the identified deletions removes the entire coding region of the short stature homeobox (SHOX) gene and both deletions remove parts of the cytokine receptor-like factor 2 (CRLF2) gene located downstream of SHOX." 2016 27207956
OMIA 002053-9913 cattle Japanese Black Hydrallantois SLC12A1 missense yes UMD3.1 10 g.62382825G > A p.P386L 2016 27613513
OMIA 001315-9615 dog Miniature Poodle Osteochondrodysplasia SLC13A1 deletion, gross (>20) yes a 130kb deletion which "ablated all but the first exon of SLC13A1" 2012 23300579
OMIA 001400-9940 sheep Texel Chondrodysplasia, Texel SLC13A1 deletion, small (<=20) yes JN108880 g.25513delT c.107delT 2012 22742499
OMIA 001097-9615 dog Alaskan Husky Necrotising encephalopathy, subacute, of Leigh SLC19A3 insertion, small (<=20) yes c.624 insTTGC 2013 23469184
OMIA 002124-9796 horse Paso Fino Tiger eye SLC24A5 Tiger-eye 2 deletion, gross (>20) yes EquCab2 1 g.141660611_141661239del c.875-340_1081+82del 2017 28655738
OMIA 002124-9796 horse Paso Fino Tiger eye SLC24A5 Tiger-eye 1 missense yes EquCab2 1 g.141677402A>T c.272A>T p.Phe91Tyr 2017 28655738 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002150-9913 cattle Rouge-des-Prés Syndrome des veaux tourneurs (Turning calves syndrome) SLC25A46 missense yes UMD3.1 7 g.112337413C>T c.376C>T p.Arg126Cys 2017 28376083
OMIA 001973-9615 dog Great Dane Ichthyosis, SLC27A4-related SLC27A4 splicing yes CanFam3.1 9 g.8684G>A c.1250G>A 2015 26506231
OMIA 001958-9913 cattle Fleckvieh Abortion due to haplotype FH2 SLC2A2 indel, small (<=20) yes UMD3.1 1 g.97239973_97239976delTTGAAAAG c.771_778delTTGAAAAGinsCATC rs379675307 2015 25927203 Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000366-9913 cattle Braunvieh Fleckvieh Fanconi syndrome SLC2A2 indel, small (<=20) yes UMD3.1 1 g.97239973_97239976delTTGAAAAG c.771_778delTTGAAAAGinsCATC rs379675307 2016 27169150 Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001033-9615 dog Dalmatian Urolithiasis SLC2A9 missense yes CanFam3.1 3 g.69456869G>T c.563G>T p.C188F 2008 18989453 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001340-9913 cattle Friesian Holstein Complex vertebral malformation SLC35A3 missense yes UMD3.1 3 g.43412427G>T c.538G>T p.V180F rs438228855 2006 16344554 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001263-9796 horse Coat colour, champagne SLC36A1 missense no EquCab2 14 g.26701092C>G c.188C>G p.T63R 2008 18802473 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000236-9615 dog Cairn Terrier Scottish Terrier West Highland White terrier Craniomandibular osteopathy SLC37A2 splicing yes CanFam3.1 9 g.9387327 c.1332C>T 2016 27187611 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001828-9913 cattle Montbeliarde Abortion due to haplotype MH2 SLC37A2 nonsense (stop-gain) yes UMD 3.1 29 g.28879810C>T c.34C>T p.R12* 2013 23762392 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000593-9913 cattle Holstein Acrodermatitis enteropathica SLC39A4 splicing yes UMD3.1 14 g.1723330 c.1645+1G>A "a single nucleotide mutation of the splice donor site in intron 10" 2006 16714095 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001879-9615 dog Australian Cattle Dog Cystinuria, type II - A SLC3A1 deletion, small (<=20) yes c.1095_1100del p.Thr366_Thr367del 2013 24001348
OMIA 000256-9615 dog Labrador Cystinuria, type I - A SLC3A1 deletion, small (<=20) yes c.350delG p.Gly117Alafs*41 2013 24001348
OMIA 000256-9615 dog Newfoundland Cystinuria, type I -A SLC3A1 nonsense (stop-gain) yes CanFam3.1 10 g.46706001C>T c.586C>T p.R196* 2000 11129328 Genomic coordinates obtained from EBI's Variant Effect Predictor
OMIA 000256-9685 domestic cat Domestic shorthair Cystinuria, type I - A SLC3A1 missense yes Felis_catus_6.2 A3 g.66470414C>T c.1342C>T p.R448W 2015 25417848 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000370-93934 Japanese quail Feather colour, albinism, sex-linked, imperfect SLC45A2 splicing yes a splice-site mutation in the SLC45A2 gene: "a G → T transversion at the splice acceptor site just preceding exon 4" 2007 17151254
OMIA 001821-9615 dog Doberman Pinscher Coat colour, albinism, oculocutaneous type IV SLC45A2 deletion, gross (>20) yes "a 4,081 base pair deletion resulting in loss of the terminus of exon seven of SLC45A2 (chr4[ratio]77,062,968-77,067,051)" (g.27141_31223del; CanFam2.0) 2014 24647637
OMIA 001821-8090 Japanese medaka Coat colour, albinism, oculocutaneous type IV slc45a2 complex rearrangement yes an inversion of 167 bp, an insertion of 48 bp, and a deletion of 172 bp 2008 18245373
OMIA 000915-9031 chicken Sex-linked imperfect albinism SLC45A2 S*AL deletion, small (<=20) no c.106delT 2007 17151254
OMIA 001821-9615 dog Lhasa Apso Mixed breed Pekingese Pomeranian Coat colour, albinism, oculocutaneous type IV SLC45A2 missense yes c.1478G>A p.G493D 2015 25790827
OMIA 000370-93934 Japanese quail Feather colour, cinnamon SLC45A2 missense no c.287C>A p.A72D 2007 17151254
OMIA 000213-74535 Bengal tiger Coat colour, white SLC45A2 missense no C>T p.A477V 2013 23707431
OMIA 001821-9615 dog Bull Mastiff Coat colour, albinism, oculocutaneous type IV SLC45A2 deletion, small (<=20) yes CanFam3.1 4 g.73864860delC c.1287delC p.Met430CysfsTer4 2017 28737247
OMIA 001344-9796 horse Coat colour, cream dilution SLC45A2 C^Cr missense no EquCab3 21 g.31,690,653G>A c.457G>A p.(Asp153Asn) 2003 12605854 EquCab3 coordinates obtained from Table S2 of Holl et al. (2019)
OMIA 001344-9796 horse Standardbred × Tennessee Walking Horse cross Coat colour, sunshine SLC45A2 C^sun missense no EquCab3 21 g.31,705,368G>A c.568G>A p.(Gly190Arg) Holl et al. (2019): "The exon sequence containing this variant was deposited in Genbank under accession no. MF688761." 2019 31006892
OMIA 001344-9796 horse American Paint Horse Lusitano Purebred Spanish horse Quarter Horse Coat colour, pearl SLC45A2 C^prl missense no EquCab3 21 g.31,709,690G>A c.985G>A p.(Ala329Thr) 2019 30968968 EquCab3 g. coordinate kindly provided by Natalia Sevane
OMIA 000915-9031 chicken Feather colour, silver SLC45A2 S*S missense no Gallus_gallus-5.0 Z g.10336663 c.1039C>A p.L347M rs314509501 2007 17151254 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000915-9031 chicken White Leghorn Feather colour, silver SLC45A2 S*S missense no Gallus_gallus-5.0 Z g.10340976 c.830A>G p.Y277C rs315357427 2007 17151254 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001821-9593 western gorilla Coat colour, albinism, oculocutaneous type IV SLC45A2 missense yes gorGor3.1 17 g.59753498G>C c.1552G>C p.G518R 2013 23721540 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001821-9913 cattle Braunvieh Coat colour, albinism, oculocutaneous type IV SLC45A2 missense yes UMD3.1 20 g.39829806G>A c.134G>A p.R45Q Important note by Rothammer et al. (2017): "To determine which of the two mutations or even if the combination of both is causal for oculocutaneous albinism in Braunvieh, it would be necessary to produce additional cases and investigate them more precisely" 2017 28982372 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001821-9913 cattle Braunvieh Coat colour, albinism, oculocutaneous type IV SLC45A2 missense yes UMD3.1 20 g.39864148C>T c.1331C>T p.T444I Important note by Rothammer et al. 92017): "To determine which of the two mutations or even if the combination of both is causal for oculocutaneous albinism in Braunvieh, it would be necessary to produce additional cases and investigate them more precisely" 2017 28982372 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001228-9913 cattle Japanese Black Spherocytosis SLC4A1 nonsense (stop-gain) yes UMD3.1 19 g.44695843 c.1990C>T p.R664* 1996 8621763 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 000755-9913 cattle Angus Friesian Hereford Holstein Simmental Osteopetrosis SLC4A2 deletion, gross (>20) yes UMD3.1 4 g.114437192_114439942del "approximately 2.8-kb deletion mutation in affected calves that encompasses exon 2 and nearly half of exon 3" 2010 20507629 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001572-9615 dog Golden Retriever Golden Retriever PRA 1 SLC4A3 insertion, small (<=20) yes 37 g.29147633 c.2601_2602insC 2011 21738669
OMIA 001578-9796 horse Dales Pony Fell Pony Foal immunodeficiency syndrome in the Fell and Dales Pony SLC5A3 missense yes EquCab2 26 g.30660224G>T c.1337G>T p.P446L 2011 21750681 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002174-9615 dog Shih-Tzu Congenital dyshormonogenic hypothyroidism with goiter SLC5A5 splicing unknown CanFam 3.1 20 g.29777899G>A Soler Arias et al. (2018): "The splice site mutation predicts loss of exon 10, at a minimum, and a shift of the translation reading frame that predicts 54 amino acids of altered protein sequence before a premature stop codon (UAG) in exon 12" 2018 29777899
OMIA 001594-9615 dog Irish Wolfhound Hyperekplexia (Startle disease) SLC6A5 deletion, gross (>20) yes "a homozygous 4.2kb microdeletion encompassing exons 2 and 3 " 2011 21420493
OMIA 001594-9615 dog Spanish greyhound Hyperekplexia (Startle disease) SLC6A5 deletion, small (<=20) yes CanFam3.1 21 p.S460FfsX47 2019 30847549
OMIA 001880-9615 dog Miniature Pinscher Cystinuria, type II - B SLC7A9 missense yes c.964G>A p.G322R 2013 24001348
OMIA 002023-9685 domestic cat Maine Coon Siamese Sphinx Cystinuria, type B SLC7A9 missense yes Felis_catus_6.2 E2 g.19520350G>A c.706G>A p.D236N 2016 27404572 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002023-9685 domestic cat Maine Coon Cystinuria, type B SLC7A9 missense yes Felis_catus_6.2 E2 g.19521709C>T c.881T>A p.V294E 2016 27404572 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002023-9685 domestic cat Cystinuria, type B SLC7A9 missense yes Felis_catus_6.2 E2 g.19530911C>T c.1175C>T p.T392M 2016 27404572 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000142-9031 chicken Araucana Blue eggshell SLCO1B3 insertion, gross (>20) no A different location for the same insertion: "a ~4.2 kb [retroviral] EAV-HP insertion in the 5' flanking region of SLCO1B3" but 23bp upstream of where the insertion occurs in Chinese breeds Dongxiang and Lushi 2013 23359636
OMIA 000142-9031 chicken Dongxiang Lushi Blue eggshell SLCO1B3 insertion, gross (>20) no "a ~4.2 kb [retroviral] EAV-HP insertion in the 5' flanking region of SLCO1B3" 2013 23359636
OMIA 001824-9913 cattle Friesian Holstein Abortion due to haplotype HH3 SMC2 missense yes UMD3.1 8 g.95410507T>C c.3404T>C p.F1135S rs456206907 2014 24667746 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001551-9615 dog Brachycephaly SMOC2 insertion, gross (>20) yes "a long interspersed nuclear element (LINE-1) within the SPARC-related modular calcium binding (SMOC2) gene" 2017 28552356
OMIA 002040-9913 cattle Belgian Blue Abortion (embryonic lethality), SNAPC4-related SNAPC4 deletion, small (<=20) yes p.Leu1227Alafs*134 2016 27646536
OMIA 002034-9615 dog Vizsla Cerebellar cortical degeneration, Hungarian Vizsla SNX14 splicing yes CanFam3.1 12 g.45530566G>A c.2653 + 1G > A 2016 27566131
OMIA 000263-9615 dog Bernese Mountain dog Degenerative myelopathy SOD1 missense yes c.52A>T p.T18S 2011 21628865
OMIA 000263-9615 dog Boxer Chesapeake Bay Retriever German Shepherd Dog Pembroke Welsh Corgi Rhodesian Ridgeback Degenerative myelopathy SOD1 missense yes CanFam3.1 31 g.26540342G>A c.100G>A p.E34K rs853026434 2009 19188595 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001569-9031 chicken Feather colour, dark brown SOX10 deletion, gross (>20) no "an 8.3-kb deletion upstream of SOX10" 2011 21210960
OMIA 002190-8932 rock pigeon Recessive red SOX10 e^1 deletion, gross (>20) no Domyan et al. (2014) reported a 7.5kb deletion that spans "a conserved enhancer element that drives Sox10 expression in melanocytes" 2014 24508169
OMIA 002190-8932 rock pigeon Recessive red SOX10 e^2 deletion, gross (>20) no Domyan et al. (2014) reported a 2.5kb deletion that spans "a conserved enhancer element that drives Sox10 expression in melanocytes" 2014 24508169
OMIA 000782-9031 chicken Japanese game fowl Pea comb SOX5 repeat variation no "Pea-comb is caused by a massive amplification of a duplicated sequence located near evolutionary conserved non-coding sequences in intron 1 of the gene encoding the SOX5 transcription factor." The pea-comb mutant phenotype results from large-scale amplification of this duplication: pea comb alleles typically have 20-40 copies of the duplicated sequence, which must be sufficient to interfere with transcription. 2009 19521496
OMIA 002175-9796 horse American Bashkir Curly horse Missouri Foxtrotter Curly coat with/without hypotrichosis SP6 missense yes EquCab3.0 11 g.24096309C>T c.1090G>A p.Asp364Asn Thomer et al. (2018): "SP6; NC_009154.2:g.24022045C>T, ss3021042887" with respect to EquCab2. Updated coordinates in this entry obtained from EVA rs1095048852; 14 Mar 2019 rs1095048852 2018 29686323
OMIA 001247-9913 cattle American Brown Swiss Spinal dysmyelination SPAST missense yes UMD3.1 11 g.14760164G>A c.1964G>A p.R560Q rs445770480 2010 19714378 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001334-9823 pig Sperm, short tail SPEF2 splicing yes an inserted retrotransposon within an intron 2006 16549801
OMIA 001403-9615 dog Miniature Schnauzer Pancreatitis, hereditary SPINK1 complex rearrangement yes a poly T insertion in the third intron that was near the boundary of exon 3 (IVS3+26-27ins(T)33-39,15_61dup11) 2010 20433378
OMIA 001318-9615 dog Mixed breed Elliptocytosis SPTB missense yes p.T2110M 2009 19228356
OMIA 002092-9615 dog Beagle Ataxia, spinocerebellar, SPTBN2-related SPTBN2 deletion, small (<=20) yes p.G1952insRDRGQGRPLLLMHRHGAGAA 2012 22781464
OMIA 001230-9796 horse Standardbred Ovotesticular DSD (Disorder of Sexual Development) SRY deletion, gross (>20) yes "at least the DNA-binding domain of the SRY gene was deleted from the Y chromosome of the XY mare" 1995 7558880
OMIA 001230-9913 cattle Japanese Black Ovotesticular DSD (Disorder of Sexual Development) SRY deletion, gross (>20) yes Y A deletion of the SRY gene 1996 8978769
OMIA 002096-9796 horse Akhal-Teke Naked foal syndrome ST14 nonsense (stop-gain) yes EquCab2 7 c.388G>T p.E130* 2017 28235824
OMIA 001297-9615 dog Norwegian Elkhound Early retinal degeneration STK38L insertion, gross (>20) yes "a SINE insertion in exon 4 of the canine STK38L/NDR2 gene. The mutation removes exon 4 from STK38L transcripts" 2010 20887780
OMIA 000878-9615 dog Arrhythmogenic right ventricular cardiomyopathy STRN deletion, small (<=20) yes CanFam2.0 17 g.32373916_32373923del8 2010 20596727
OMIA 001356-9796 horse Coat colour, grey/gray STX17 duplication no a 4.6kb intronic duplication in the gene for syntaxin-17 (STX17). This duplication appears to increase the expression of both syntaxin-17 and a neighbouring gene NR4A3, 2008 18641652
OMIA 001960-9913 cattle Fleckvieh Abortion due to haplotype FH4 SUGT1 missense yes UMD3.1 12 g.11131497T>C c.949T>C p.W317R rs110793536 2015 25927203 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000059-9913 cattle Brown Swiss Arachnomelia, BTA5 SUOX insertion, small (<=20) yes UMD3.1 5 g.57641332-57641333insG c.363-364insG p.Ala124GlyfsX42 2010 20865119 Variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001373-9615 dog Greyhound Nasal parakeratosis SUV39H2 deletion, small (<=20) yes CanFam 3.1 2 g.21731812_21731815delACTT c.996+3_996+6delAAGT 2018 29423952
OMIA 001373-9615 dog Labrador Retriever Nasal parakeratosis SUV39H2 missense yes CanFam3.1 2 g.21731842A>C c.972T>G p.N324K 2013 24098150
OMIA 000975-9685 domestic cat Tail, short T deletion, small (<=20) yes c.1169delC 2013 23949773
OMIA 000975-9685 domestic cat Tail, short T deletion, small (<=20) yes c.1199delC 2013 23949773
OMIA 000975-9685 domestic cat Tail, short T deletion, small (<=20) yes c.998delT 2013 23949773
OMIA 000975-9685 domestic cat Tail, short T indel, small (<=20) no c.998_1014dup17delGCC 2013 23949773
OMIA 000975-9615 dog Pembroke Welsh Corgi Bob tail T missense yes CanFam3.1 1 g.54192143C>G c.189C>G p.I63M 2001 11252170 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001951-9913 cattle Holstein Vertebral and spinal dysplasia T missense yes UMD3.1 9 g.102675827A>G c.196A>G p.K66E 2015 25614605 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002180-9823 pig Duroc Embryonic lethality TADA2A splicing yes Sscrofa11.1 12 g.38922102G>A 2019 30875370
OMIA 001617-9685 domestic cat Sweet taste, lack of TAS1R2 deletion, gross (>20) yes the TAS1R2 gene has "a 247-base pair microdeletion in exon 3 and stop codons in exons 4 and 6" 2005 16103917
OMIA 001617-32536 cheetah Sweet taste, lack TAS1R2 deletion, gross (>20) yes "a 247-base pair microdeletion in exon 3 and stop codons in exons 4 and 6" 2005 16103917
OMIA 001617-9685 domestic cat Sweet taste, lack TAS1R2 deletion, gross (>20) yes "a 247-base pair microdeletion in exon 3 and stop codons in exons 4 and 6" 2005 16103917
OMIA 001617-9694 tiger Sweet taste, lack TAS1R2 deletion, gross (>20) yes "a 247-base pair microdeletion in exon 3 and stop codons in exons 4 and 6" 2005 16103917
OMIA 001972-9796 horse Non-dun TBX3 nd1 regulatory no EquCab2 8 Differs from the wild-type allele by a SNP downstream of the wild-type TBX3 sequence (located 1067bp downstream of the start of the larger nd2 deletion described in the nd2 entry), with allele nd1 = T compared with the wild-type D allele = G); an ancient variant 2016 26691985
OMIA 001972-9796 horse Non-dun TBX3 nd2 regulatory unknown EquCab2 8 A 1609bp deletion (18 227 267–18 227 279; EquCab2) downstream of the wild-type TBX3 sequence plus an 8bp deletion 11 bases upstream of the larger deletion; a recent variant 2016 26691985
OMIA 001975-9615 dog Spanish water dog Neuroaxonal dystrophy, juvenile TECPR2 missense yes CanFam3.1 8 g.70433320C>T c.4009C>T p.R1337W 2015 26555167 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001673-9823 pig Finnish Yorkshire Spermatogenic arrest TEX14 splicing yes 12 "a 51 bp insertion within exon 27, which caused differential splicing of the exon and created a premature translation stop codon" 2011 22136159
OMIA 001941-9913 cattle Holstein Abortion due to haplotype HH5 TFB1M complex rearrangement yes "a deletion of 138kbp, spanning position 93,233kb to 93,371kb on chromosome 9 (BTA9), harboring only dimethyl-adenosine transferase 1 (TFB1M). The deletion breakpoints are flanked by bovine long interspersed nuclear elements Bov-B (upstream) and L1ME3 (downstream), suggesting a homologous recombination/deletion event." 2016 27128314
OMIA 000424-9925 goat Dutch Landrace Goitre, familial TG nonsense (stop-gain) yes c.945C>G p.Y296* 1993 8380383
OMIA 000424-9913 cattle Afrikander Goitre, familial TG nonsense (stop-gain) yes UMD 3.1 14 g. 9487845C>T c.1963C>T p.R655* rs480120030 1987 3472203 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000546-9615 dog Jack Russell Terrier Ichthyosis TGM1 insertion, gross (>20) yes a LINE-1 insertion in the TGM1 gene 2009 19438474
OMIA 001694-9940 sheep Rambouillet Polypay Resistance to lentivirus TMEM154 regulatory no NC_019477.1 17 g.29500068_29500069delAT 2013 24303974
OMIA 002176-9940 sheep Coopworth Perendale Meckel-like hepatorenal fibrocystic dysplasia syndrome TMEM67 haplotype yes OARv3.1 9 c.(2050T>A; 2068T>G p.(Ile681Asn; Ile687Ser) 2017 28487520
OMIA 001902-9913 cattle Fleckvieh Male subfertility TMEM95 nonsense (stop-gain) yes UMD3.1 19 g.27689622C>A c.483C>A p.Cys161* rs378652941 2014 24391514 Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001302-9031 chicken Resistance to avian sarcoma and leukosis viruses, subgroup B TNFRSF10B missense no c.G>C p.C125S 2008 18094190
OMIA 001302-9031 chicken Resistance to avian sarcoma and leukosis viruses, subgroup B TNFRSF10B nonsense (stop-gain) no Gallus_gallus-5.0 22 g.1281321C>T c.172C>T p.Q58* rs736008824 2002 12097608 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000162-9103 turkey Cardiomyopathy, dilated TNNT2 splicing yes delGGGCTCCTC 2002 11886865
OMIA 002203-9615 dog Chihuahua Poodle Ehlers-Danlos syndrome, classic-like, 1 TNXB missense yes CanFam 3.1 12 g.1,490,385C>T c.2900G>A p.(Gly967Asp) XM_003431680.3:c.2900G>A, p.(Gly967Asp) 2019 31365140
OMIA 002203-9615 dog Mixed breed Ehlers-Danlos syndrome, classic-like, 1 TNXB missense yes CanFam3.1 12 g.1,499,124C>T c.2012G>A p.(Ser671Asn) XM_003431680.3: c.2012G>A, p.(Ser671Asn) 2019 31365140
OMIA 000536-9615 dog Spanish water dog Hypothyroidism TPO regulatory yes an insertion of an 8-nt poly-G tract that necessitates an alternative translation initiation site 2013 23223904
OMIA 000536-9685 domestic cat Domestic shorthair Hypothyroidism TPO missense yes c.1333G>A p.A445T 2015 Reference not in PubMed; see OMIA 000536-9685 for reference details
OMIA 000536-9615 dog Tenterfield Terrier Hypothyroidism TPO missense yes c.1777C>T p.R593W 2012 23113744
OMIA 000536-9615 dog French bull dog Hypothyroidism TPO splicing yes CanFam 3.1 17 g.801598 c.2242 + 2T>C 2015 26478542
OMIA 000536-9615 dog Rat Terrier Toy Fox Terrier Hypothyroidism TPO nonsense (stop-gain) yes CanFam3.1 17 g.784624C>T c.331C>T p.Q111* 2003 12564727 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001472-9615 dog Dachshund Neuronal ceroid lipofuscinosis, 2 TPP1 deletion, small (<=20) yes c.325delC p.A108Pfs*6 2006 16621647 p. information obtained from Katz et al. (2017) Neurobiol Dis. doi: 10.1016/j.nbd.2017.08.017
OMIA 001467-9615 dog Golden Retriever Neuropathy, sensory ataxic tRNA-Tyr deletion, small (<=20) yes A deletion of a single base (at position 5304) in the mitochondrial gene for transfer RNA for the amino acid tyrosine (called tRNA-Tyr) 2009 19492087
OMIA 001341-9796 OMIA 002139-9796 horse American Miniature Horse Appaloosa Australian Spotted Pony British Spotted Pony Knabstrupper Noriker Pony of the Americas Thoroughbred Stationary congenital night blindness & Leopard Complex/Appaloosa spotting TRPM1 insertion, gross (>20) no EquCab2 1 g.108297929_108297930ins1378 "a 1378 bp retroviral LTR insertion in intron 1 of TRPM1" 2013 24167615
OMIA 000319-9685 domestic cat Scottish Fold Ears, folded TRPV4 missense yes Felis_catus_6.2 D3 g.25138541G>T c.1024G>T p.V342F 2016 27063440 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000542-9913 cattle Pezzata Rossa Hypotrichosis, streaked TSR2 splicing yes UMD3.1 X g.97363937A>G c.441+226A>G 2015 26203908 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 001984-9615 dog Golden Retriever Golden Retriever PRA 2 TTC8 deletion, small (<=20) yes CanFam 2 8 g.63129154delA c.669delA p.Lys223Argfs*15 2014 26401321
OMIA 002036-9913 cattle Holstein-Friesian Abortion (embryonic lethality), TTF1 TTF1 nonsense (stop-gain) yes UMD3.1 11 g.102498942G>A c.1579G>A p.R527* rs715966442 2016 27646536 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001001-9615 dog Norfolk terrier Thrombocytopaenia TUBB1 missense yes c.5G>A p.R2H 2014 25060661
OMIA 001001-9615 dog King Charles Spaniel Thrombocytopaenia TUBB1 missense yes c.745G>A p.D249N 2008 18466252
OMIA 001939-9913 cattle Brown Swiss Abortion due to haplotype BH2 TUBD1 missense yes UMD3.1 19 g.11063520T>C c.757T>C p.H210R rs383232842 2016 27225349 Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001593-9913 cattle Charolais Scurs, type 2 TWIST1 insertion, small (<=20) no UMD3.1 4 g.27855023 c.148_157dup p.A56RfsX87 2011 21814570 Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001469-9913 cattle Belted Galloway Brown Swiss Dutch Belted Coat colour, white belt TWIST2 repeat variation no "The belt-associated variant was a copy number variant (CNV) involving the quadruplication of a 6 kb non-coding sequence located approximately 16 kb upstream of the TWIST2 gene" 2017 28658273
OMIA 000202-9685 domestic cat Coat colour, complete albinism TYR c deletion, small (<=20) yes D1 "a cytosine deletion in TYR at position 975 in exon 2" 2006 16573534
OMIA 000202-9669 domestic ferret Coat colour, albinism TYR deletion, gross (>20) yes "deletion of exon 4" 2007 17655555
OMIA 000369-9031 chicken Feather colour, recessive white TYR C*C insertion, gross (>20) no a retroviral insertion in the tyrosinase gene 2006 16457736
OMIA 000202-8090 Japanese medaka Coat colour, albinism tyr insertion, gross (>20) yes a 1.9 kb fragment, corresponding to a novel transposable element (Tol1), has been inserted in exon 1 of the gene for tyrosinase 1995 8552044
OMIA 000202-9773 humpback whale Migaloo, the white whale TYR deletion, small (<=20) yes "(264 del C) at codon 88" 2012 22140253
OMIA 000202-9685 domestic cat Siamese Siamese coat colour TYR c^s missense no D1 c. 940G>A p.G302R 2005 15771720
OMIA 000202-8410 Japanese wrinkled frog Albinism TYR missense yes c.1127G>A p.Gly376Asp 2017 28674275
OMIA 000202-8409 dark-spotted frog Albinism TYR insertion, small (<=20) yes c.1244_1245insT 2017 28674275
OMIA 000202-452646 American mink Albinism TYR nonsense (stop-gain) yes c.138T>A p.C46* 2008 18822100
OMIA 000202-89462 water buffalo Albinism TYR nonsense (stop-gain) yes c.1431G>A p.W477* 2012 22817390
OMIA 000202-1772025 Rice frog Albinism TYR missense yes c.169G>A p.Gly57Arg 2017 28674275
OMIA 001497-452646 American mink Coat colour, Himalayan TYR missense no c.1835C>G p.H420Q 2009 19308642
OMIA 000202-9689 lion White lion TYR missense no c.260G>A p.Arg87Gln 2013 24045858
OMIA 000202-9793 ass Coat colour, albinism TYR missense yes c.604C>G p.H202D 2016 26763160
OMIA 000202-9515 Tufted capuchin Coat colour, albinism TYR nonsense (stop-gain) yes c.64C>T p.R22* 2017 28476152
OMIA 000202-8409 dark-spotted frog Albinism TYR deletion, small (<=20) yes c.682_684del p.228delLys 2017 28674275
OMIA 000202-10141 domestic guinea pig Coat colour, albinism Tyr missense no c.710A>G p.Asp237Gly PRJEB26285 2018 29947431
OMIA 000202-8409 dark-spotted frog Albinism TYR insertion, small (<=20) yes c.768_769insT 2017 28674275
OMIA 000369-9031 chicken Feather colour, albinism TYR C*A deletion, small (<=20) yes c.817_822del6 p.237-238delDW 2000 10685888
OMIA 000202-9685 domestic cat Albinism TYR c^2 nonsense (stop-gain) yes Felis_catus_6.2 D1 g.46311692C>T c.1204C>T p.R402* 2017 27634063 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000202-9685 domestic cat Burmese Burmese coat colour TYR c^b missense no Felis_catus_6.2 D1 g.46406472G>T c.679G>T p.G227W 2005 15771720 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000202-9685 domestic cat Burmese Mocha TYR c^m duplication no Felis_catus_9.0 D1 g.45898609-45898771dup c.820_936delinsAATCTC p.I274_L312delinsNL Yu et al. (2019): "Sanger sequencing for genomic DNA revealed NC_018732.3:chromosome D1:45 898 609_45 898 771dup in exon 2 and intron 2 of TYR. Transcription analysis using cDNA detected c.820_936delinsAATCTC (p.I274_L312delinsNL), which caused a 111‐bp (37 amino acid) deletion in the reading frame of TYR." 2019 30716167
OMIA 000202-9986 rabbit Coat colour, albinism TYR missense yes OryCun2.0 1 g.127636997C>A c.1118C>A p.T373K 2000 10920244 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000202-9913 cattle Braunvieh Coat colour, albinism TYR insertion, small (<=20) no UMD3.1 29 g.6451725 c.925_926insC 2004 14727143 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001249-9685 domestic cat Chocolate TYRP1 splicing no p.Ala420_Asp421ins17/18 Lyons et al. (2005): "An intron 6 mutation that potentially disrupts the exon 6 downstream splice-donor recognition site" Li et al. (2018; Pigment Cell Melanoma Res., 1–10): "donor splice site mutation. p.Ala420_Asp421ins17/18" 2005 16104383
OMIA 001249-9823 pig Chinese-Tibetan Dahe Kele Brown TYRP1 deletion, small (<=20) no c.1484_1489del6 p.Met495_Gly496del 2011 20978532
OMIA 001249-9925 goat Brown TYRP1 missense no c.1487G>A p.Gly496Asp 2015 25392961
OMIA 001249-9940 sheep Brown TYRP1 missense no c.2240C>G p.A???V 2013 23451726
OMIA 001249-9685 domestic cat Cinnamon (light brown) TYRP1 nonsense (stop-gain) no c.298C>T p.R100* 2005 16104383
OMIA 002061-345164 Saker falcon Feather colour, light brown TYRP1 complex rearrangement no c.79C>T and c.79_80insT in exon 1, resulting in "a frameshift change and a premature stop codon at position 81 of the deduced protein sequence, which in the wild-type form contains 536 amino acids. 2017 27611661
OMIA 001322-93934 Japanese quail Feather colour, roux TYRP1 missense no c.845T>C p.F282S 2007 18028514
OMIA 001362-9823 pig Blond TYRP1 deletion, small (<=20) no g.17599_17604del p.M495_G496del 2016 26680103
OMIA 001249-9986 rabbit Brown TYRP1 nonsense (stop-gain) no 1 g.41360196G>A c.570G>A p.Trp190ter 2014 24814776
OMIA 001249-9615 dog Numerous breeds Brown TYRP1 b^c missense no CanFam3.1 11 g.33317810T>C c.121A>T p.C41S 2002 12140685 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. Correction to genomic details provided by professor Claire Wade August 2018.
OMIA 001249-9615 dog Australian Shepherd Brown TYRP1 nonsense (stop-gain) no CanFam3.1 11 g.33319349T>G c.555T>G p.Tyr185* 2017 28497851
OMIA 001249-9615 dog Numerous breeds Brown TYRP1 b^s nonsense (stop-gain) no CanFam3.1 11 g.33326685C>T c.991C>T p.Q331* rs850566878 2002 12140685 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001249-9615 dog Numerous breeds Brown TYRP1 b^d deletion, small (<=20) no CanFam3.1 11 g.33326727_33326729del c.1033_1035del p.Pro345del rs851422848 2002 12140685
OMIA 001259-9031 chicken Orpington Wyandotte Chocolate feathered TYRP1 missense no galGal5 Z g.30830367C>A c.640C>A p.His214Asn 2019 30457703
OMIA 001249-9940 sheep Tawny TYRP1 missense no Oar_v3.1 2 g.80608128G>T c. 869G>T p.C290F 2008 18202287 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001249-9913 cattle Dexter Dun brown TYRP1 missense no UMD3.1 8 g.31711945C>T c.1300C>T p.H434Y 2003 12755816 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001934-9913 cattle Finnish Ayrshire Ptosis, intellectual disability, retarded growth and mortality (PIRM) syndrome UBE3B splicing yes UMD3.1.1 17 g.65921497G>A p.E692E rs475678587 2014 25306138 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Variant rsID kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001436-9823 pig Non-shivering thermiogenesis, absence of UCP1 deletion, gross (>20) yes "exons 3 to 5 were eliminated by a deletion in the pig sequence" 2006 16933999
OMIA 001586-9685 domestic cat Deficient acetaminophen glucuronidation UGT1A6 complex rearrangement yes "UGT1A6 is a pseudogene" 2000 10862526
OMIA 000262-9913 cattle Friesian Holstein Holstein-Friesian Red Holstein Waygu Deficiency of uridine monophosphate synthase UMPS nonsense (stop-gain) yes UMD 3.1 1 g.69756880C>T c.1213C>T p.R405* 1993 8486364 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
OMIA 002182-9823 pig Landrace Embryonic lethality URB1 deletion, small (<=20) yes Sscrofa11.1 13 g.195977038delC p.Val1961fs Derks et al. (2019): "[a] frameshift mutation in exon 38 of the URB1 gene (13:g.195977038delC) caused by a 1-bp deletion . . . The frameshift (ENSSSCP00000036505:p.Val1961fs) introduces 26 novel amino acids and a premature stop codon, producing a truncated protein of 1,986 amino acids, lacking the final 261 amino acids compared to the wild-type protein (2,247 AA)." 2019 30875370
OMIA 001176-9940 sheep German Blackface Porphyria cutanea tarda urod missense yes Oar_v3.1 1 g.19437840T>C c.392T>C p.L131P rs429214636 2005 16026339 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001175-9685 domestic cat Porphyria, congenital erythropoietic UROS missense yes c.140C>T + c.331G>A p.S47F + p.G111S 2010 20485863
OMIA 001431-9615 dog Pomeranian Vitamin D-deficiency rickets, type II VDR splicing yes "A unique single base deletion (guanine) was identified at the exon 4-intron junction" 2009 19909429
OMIA 001947-9615 dog Eurasier Cerebellar hypoplasia, VLDLR-associated VLDLR deletion, small (<=20) yes c.1713delC p.W572Gfs*10 2015 25668033
OMIA 000865-9031 chicken Restricted ovulator VLDLR missense yes c.G>C p.C682S 1995 7568242
OMIA 002152-9615 dog Rottweiler Neuroaxonal dystrophy, VPS11-related VPS11 missense yes CanFam3.1 5 g.14777774T>C c.2504A>G p.H835R
Reference not in PubMed; see OMIA 002152-9615 for reference details
OMIA 001428-9615 dog Border Collie Trapped Neutrophil Syndrome VPS13B deletion, small (<=20) yes g.4411950_4411953delGTTT 2011 21605373
OMIA 001058-9615 dog Dutch Kooiker Von Willebrand disease III VWF splicing yes "a G>A base substition at the first position of the donor splice site sequence of intron 16" 1998 9716162
OMIA 001058-9615 dog Scottish Terrier Von Willebrand disease III VWF deletion, small (<=20) yes "a single base deletion in the codon for amino acid 85 of the prepro-vWF cDNA" 2000 10668811
OMIA 001058-9615 dog Shetland Sheepdog Von Willebrand disease III VWF deletion, small (<=20) yes Lehner et al. (2018; G3: Genes, Genomes, Genetics February 1, 2018 vol. 8 no. 2 577-585; https://doi.org/10.1534/g3.117.300432): "1-base deletion within exon 7 is the putative cause for VWD in the Shetland Sheepdog (Venta et al. 1998) [Venta, P. J., G. J. Brewer, V. Yuzbasiyan-Gurkan, W. D. Schall, and J. Duffendeck, 1998 Inventors; The Regents of the University of Michigan, assignee. DNA encoding canine von Willebrand factor and methods of use. United States patent US6074832A. 1998 Aug 11.]" 1998 Reference not in PubMed; see OMIA 001058-9615 for reference details
OMIA 001058-9823 pig Mixed breed Von Willebrand disease III VWF duplication yes p.Val814LeufsTer3 "a tandem duplication of exons 17 and 18, causing a frameshift and a premature termination codon (p.Val814LeufsTer3) . . . This duplication putatively originates from porcine SINE elements located within VWF introns 16 and 18 with high identity. 2017 29208651
OMIA 001339-9615 dog Chinese Crested Dog German Shorthair Pointer German Wirehaired Pointer Von Willebrand disease II VWF missense yes CanFam3.1 27 g.38887211T>G c.1657T>G p.Trp553Gly 2017 28696025 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001339-9615 dog German Shorthair Pointer German Wirehaired Pointer Von Willebrand disease II VWF missense yes CanFam3.1 27 g.38924099A>G c.4937A>G p.Asn1646Ser rs852456570 2004 15133170 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001057-9615 dog Doberman Pinscher Kromfohrländer Von Willebrand disease I VWF splicing yes CanFam3.1 27 g.38951839G>A c.7437G>A p.Ser2479Ser 2013 23911791 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000733-9913 cattle Japanese Black Multiple ocular defects WFDC1 insertion, small (<=20) yes UMD3.1 18 g.10570493 c.321insC insertion of a single base in the gene for WFDC1 2009 19374945 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
OMIA 001579-9823 pig Large White Minzhu Ear size WIF1 missense no Sscrofa11.1 5 g. 29463165C>G c.1167C>G p.Phe236Leu rs338733115 2019 30815903
OMIA 001759-9685 domestic cat Hypokalaemic periodic paralysis WNK4 nonsense (stop-gain) yes c.2899C>T p.Q??* 2012 23285264
OMIA 000679-9031 chicken NH-413 strain OPN strain Muscular dystrophy WWP1 missense yes Gallus_gallus-5.0 2 g.123640033G>A c.1322G>A p.R441Q 2008 18501710 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001736-9913 cattle Charolais Polled and multisystemic syndrome ZEB2 deletion, gross (>20) yes A 3.7Mb deletion encompassing the genes ARHGAP15, GTDC1 and ZEB2 2012 23152852
Overall Statistics
Total number of variants 1074
Variants with genomic location 513 (47.8% )
Variants in a variant database, i.e. with rs ID 81 (7.5%)
Variant Type Count Percent
complex rearrangement 28 2.6%
deletion, gross (>20) 88 8.2%
deletion, small (<=20) 171 15.9%
duplication 12 1.1%
extension (stop-lost) 2 0.2%
haplotype 2 0.2%
indel, gross (>20) 1 0.1%
indel, small (<=20) 18 1.7%
insertion, gross (>20) 53 4.9%
insertion, small (<=20) 63 5.9%
inversion 5 0.5%
missense 381 35.5%
nonsense (stop-gain) 123 11.5%
not known 2 0.2%
regulatory 30 2.8%
repeat variation 6 0.6%
splicing 87 8.1%
start-lost 2 0.2%
Year First Reported Count Percent
1986 1 0.1%
1987 1 0.1%
1988 0 0.0%
1989 2 0.2%
1990 3 0.3%
1991 2 0.2%
1992 4 0.4%
1993 8 0.7%
1994 11 1.0%
1995 7 0.7%
1996 13 1.2%
1997 14 1.3%
1998 22 2.0%
1999 21 2.0%
2000 24 2.2%
2001 17 1.6%
2002 31 2.9%
2003 18 1.7%
2004 19 1.8%
2005 33 3.1%
2006 36 3.4%
2007 59 5.5%
2008 34 3.2%
2009 44 4.1%
2010 49 4.6%
2011 61 5.7%
2012 71 6.6%
2013 80 7.4%
2014 50 4.7%
2015 70 6.5%
2016 72 6.7%
2017 95 8.8%
2018 58 5.4%
2019 42 3.9%