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463 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.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA ID(s) Species Name Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Deleterious? Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
OMIA 002179-9615 dog Labrador Retriever Stargardt disease 1 ABCA4 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 6 g.55146556dup c.4176dup p.(F1393Lfs*3) 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)." Variant information changed to reflect HGVS nomenclature 2019 30889179
OMIA 001402-9615 dog Border Collie Adverse reaction to certain drugs ABCB1 regulatory Naturally occurring variant no 14 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 Adverse reaction to certain drugs ABCB1 deletion, small (<=20) Naturally occurring variant yes 14 c.295_298delAGAT p.(D75fs) 2001 11692082 Variant information gleaned from or confirmed by Donner et al. (2016) PLoS One 11:e0161005
OMIA 001402-9615 dog Border Collie Adverse reaction to certain drugs ABCB1 insertion, small (<=20) Naturally occurring variant yes 14 c.73insAAT 2010 21113104
OMIA 001524-9615 dog Shetland Sheepdog Gallbladder mucoceles ABCB4 insertion, small (<=20) Naturally occurring variant yes 14 c.1583_1584G 2010 20598156
OMIA 002368-9615 dog Golden Retriever Ichthyosis, ABHD5-related ABHD5 ICH2 deletion, small (<=20) Naturally occurring variant unknown CanFam3.1 23 g.2587000_2587013del c.1006_1019del p.(D336Sfs*6) XM_542689.5; XP_542689.2 2021 34791225
OMIA 002140-9615 dog German Hunting Terrier Exercise induced metabolic myopathy ACADVL nonsense (stop-gain) Naturally occurring variant unknown CanFam3.1 5 g.32193689C>A c.1728C>A p.(Y576*) 2018 29491033
OMIA 002177-9615 dog Akita American Akita Amelogenesis imperfecta, ACP4-related ACPT insertion, small (<=20) Naturally occurring variant yes CanFam3.1 1 c.1189dupG p.(A397Gfs) 2019 30877375
OMIA 002226-9615 dog Australian Kelpie Intestinal lipid malabsorption ACSL5 deletion, gross (>20) Naturally occurring variant yes CanFam3.1 28 g.23380074_23483377del NC_006610.3CFA28:g.23380074_23483377del (O/Brien et al., 2020) 2020 33106515
OMIA 001520-9615 dog Glen of Imaal Terrier Cone-rod dystrophy 3 ADAM9 deletion, gross (>20) Naturally occurring variant yes 16 "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 Naturally occurring variant yes 20 p.(G661R) 2011 21379321
OMIA 001870-9615 dog Norwegian Elkhound Glaucoma, primary open angle ADAMTS10 missense Naturally occurring variant yes CanFam3.1 20 g.53101896C>T c.1159G>A p.(A387T) 2014 25372548 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001976-9615 dog Petit Basset Griffon Vendéen Glaucoma, primary open angle, ADAMTS17-related ADAMTS17 inversion Naturally occurring variant yes CanFam3.1 3 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) Naturally occurring variant 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 Jack Russell Terrier Lancashire heeler Miniature Bull Terrier Lens luxation ADAMTS17 splicing Naturally occurring variant yes CanFam3.1 3 g.40782144G>A c.1473+1G>A rs1152388408 rs1152388408 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 Naturally occurring variant 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 000588-9615 OMIA 001976-9615 dog Chinese Shar-Pei Primary open-angle glaucoma (POAG), primary lens luxation (PLL), or both ADAMTS17 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 3 g.40935387_40935392del c.3070_3075delCGTGGT p.(V1025_V1026del) 2018 29287154
OMIA 000328-9615 dog Doberman Pinscher Ehlers-Danlos syndrome, type VII (Dermatosparaxis) ADAMTS2 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 11 g.2408978C>T c.769C>T p.(R257*) 2019 31294848
OMIA 001140-9615 dog Nova Scotia Duck Tolling retriever Cleft lip with or without cleft palate ADAMTS20 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 27 c.1360_1361delAA p.(K453Ifs*3) 2015 25798845
OMIA 001893-9615 dog Norwich Terrier Upper airway syndrome ADAMTS3 missense Naturally occurring variant yes CanFam3.1 13 g.61287796G>A c.2786G>A p.(R929H) 2019 31095560
OMIA 001509-9615 dog Beagle Musladin-Lueke syndrome ADAMTSL2 missense Naturally occurring variant 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 001577-9615 dog Curly-coated retriever Glycogen storage disease IIIa AGL deletion, small (<=20) Naturally occurring variant yes 6 c.4223delA 2007 17338148
OMIA 001672-9615 dog Coton de Tulear Primary hyperoxaluria type I (Oxalosis I) AGXT missense Naturally occurring variant yes CanFam3.1 25 g.50968854G>A c.304G>A p.(G102S) XP_003639939.1:p.Gly102Ser rs397510072 rs397510072 2012 22486513 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002205-9615 dog Rough Collie Recurrent inflammatory pulmonary disease AKNA deletion, small (<=20) Naturally occurring variant yes CanFam3.1 11 g.68576241_68576244del c.2717_2720delACAG p.(D906Afs*173) XM_014117950.2: c.2717_2720delACAG; XP_013973425.1:p.(Asp906Alafs*173) 2019 31357536
OMIA 002250-9615 dog Saluki Succinic Semialdehyde Dehydrogenase Deficiency ALDH5A1 missense Naturally occurring variant yes CanFam3.1 35 g.22572768G>A c.866G>A p.(G288D) XM_014110599.2: c.866G>A; XP_013966074.2: p.(Gly288Asp) (Vernau et al., 2020) 2020 32887425
OMIA 002162-9615 dog Karelian bear dog Hypophosphatasia ALPL missense Naturally occurring variant yes CanFam3.1 2 g.77561953A>C c.1301T>G p.(V434G) 2019 30700765
OMIA 001868-9615 dog Siberian Husky Blue eyes ALX4 duplication Naturally occurring variant no CanFam3.1 18 g.44791414_44890185dup Deane-Coe et al. (2018): "a 98.6-kb duplication directly upstream of the Homeobox gene ALX4" 2018 30286082 g. coordinates kindly provided by Anna Letko and Cord Drögemüller (7th Oct 2019)
OMIA 000791-9615 dog Miniature Schnauzer Persistent Mullerian duct syndrome AMHR2 nonsense (stop-gain) Naturally occurring variant yes 27 c.241C>T p.(R??*) 2009 18723470
OMIA 000565-9615 dog Giant Schnauzer Intestinal cobalamin malabsorption, AMN-related AMN deletion, gross (>20) Naturally occurring variant yes 8 c.1113_1145del 2005 15845892
OMIA 000565-9615 dog Australian Shepherd Intestinal cobalamin malabsorption, AMN-related AMN regulatory Naturally occurring variant yes 8 c.3G>A 2005 15845892
OMIA 000101-9615 dog Dalmatian Respiratory distress syndrome ANLN nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 14 g.47812143C>T 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 Naturally occurring variant yes CanFam3.1 27 g.8912219C>T 2015 26414452 Variant coordinates obtained from or confirmed by EBI's Variant Effect Predictor (VEP) tool
OMIA 000248-9615 dog Collie Neutropenia, cyclic AP3B1 insertion, small (<=20) Naturally occurring variant yes 3 a single base pair insertion in exon 20 of AP3 beta gene (AP3B1) 2003 12897784
OMIA 001916-9615 dog Jack Russell Terrier Familial Adenomatous Polyposis APC delins, small (<=20) Naturally occurring variant yes CanFam3.1 3 g.312131_312132delinsAA c.[462_463delinsTT] p.(K155X) NC_006585.3 c.[462_463delinsTT] 2020 32445578 Reference assembly and genomic location and cDNA reference ID kindly provided by Kyoko Yoshizaki, 17 Dec 2020
OMIA 001917-9615 dog Leonberger Saint Bernard Polyneuropathy, ARHGEF10-related ARHGEF10 deletion, small (<=20) Naturally occurring variant yes CanFam2.0 16 c.1955_1958+6delCACGGTGAGC 2014 25275565
OMIA 000666-9615 dog Miniature Schnauzer Mucopolysaccharidosis VI ARSB deletion, gross (>20) Naturally occurring variant yes CanFam3.1 3 g.27870127_27870182del c.‐24_32del a homozygous 56 bp deletion (NM_001048133.1:c.‐24_32del) (Raj et al., 2020) 2020 32985704 g. coordinate kindly provided by Karthik Raj 29 Oct 2020
OMIA 000666-9615 dog Miniature Poodle Mucopolysaccharidosis VI ARSB deletion, gross (>20) Naturally occurring variant yes CanFam3.1 3 g.27870253_27870274del c.103_124del p.(A35Gfs*108) 2012 22329490 Variant information kindly provided by Karthik Raj and Urs Giger
OMIA 000666-9615 dog Great Dane Mucopolysaccharidosis VI ARSB nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 3 g.27870445C>T c.295C>T p.(Q99*) 2018 29157190 Variant information kindly provided by Karthik Raj and Urs Giger, and confirmed by Ensembl's VEP
OMIA 000666-9615 dog Miniature Pinscher Mucopolysaccharidosis VI ARSB missense Naturally occurring variant yes CanFam3.1 3 g.27950471G>A c.910G>A p.(G304R) (NM_001048133.1:c.910G>A; NP_001041598.1:p.Gly304Arg) (Raj et al., 2020) 2020 32985704 g. coordinate kindly provided by Karthik Raj 29 Oct 2020
OMIA 001503-9615 dog American Staffordshire Terrier Neuronal ceroid lipofuscinosis, 4A ARSG missense Naturally occurring variant 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 000201-9615 dog Dominant yellow ASIP DY reference sequence allele Naturally occurring variant no CanFam3.1 24 CanFam3.1 The reference sequence CanFam3.1 represents the dominant yellow phenotype. 2021 34385618
OMIA 000201-9615 dog Black saddle ASIP BS delins, gross (>20) Naturally occurring variant no CanFam3.1 24 g.23378062_23379640delins[MT319116.1:424_663] Likely causal regulatory promoter variant 2021 34385618
OMIA 000201-9615 dog German Shepherd Dog Recessive black ASIP missense Naturally occurring variant no CanFam3.1 24 g.23393552C>T c.286C>T p.(R96C) rs851336386 rs851336386 2004 15520882 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000201-9615 dog Black back 3 ASIP BB3 haplotype Naturally occurring variant no CanFam3.1 24 g.[23353288_23353472del;23354716_23354751A[4];23377890_23378086del;23378320_23378343del;g.23378858_2 Haplotype containing a likely causal regulatory promoter variant 2021 34385618
OMIA 000201-9615 dog Agouti ASIP AG haplotype Naturally occurring variant no CanFam3.1 24 g.[23353288_23353472del;23354716_23354751A[4];23377890_23378086del;23378320_23378343del] Haplotype containing a likely causal regulatory promoter variant 2021 34385618
OMIA 000201-9615 dog Black back 1 ASIP BB1 haplotype Naturally occurring variant no CanFam3.1 24 g.[23353288_23353472del;23354716_23354751A[4];23378062_23378231delins[MT319115.1:424_674] Haplotype containing a likely causal regulatory promoter variant 2021 34385618
OMIA 000201-9615 dog Black back 2 ASIP BB2 haplotype Naturally occurring variant no CanFam3.1 24 g.[23353288_23353472del;23354716_23354751A[4];23378062_23379640delins[MT319116.1:424_663]] Haplotype containing a likely causal regulatory promoter variant 2021 34385618
OMIA 000201-9615 dog Shaded yellow ASIP SY haplotype Naturally occurring variant no CanFam3.1 24 g.[23353288_23353472del;23354716_23354751A[4]] Haplotype containing a likely causal regulatory promoter variant 2021 34385618
OMIA 002099-9615 dog German Shepherd Dog Ichthyosis, ASPRV1-related ASPRV1 missense Naturally occurring variant yes CanFam3.1 10 c.1052T>C p.(L351P) 2017 28249031
OMIA 001471-9615 dog Standard Poodle Neonatal encephalopathy with seizures ATF2 missense Naturally occurring variant yes CanFam3.1 36 g.19078954A>C 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 Naturally occurring variant yes CanFam3.1 20 g.50618958C>T 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 Naturally occurring variant yes 2 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 Naturally occurring variant yes CanFam3.1 2 g.81208162C>T c.1118C>T p.(T373I) 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) Naturally occurring variant yes CanFam3.1 5 "a 227 bp SINE insertion into exon 2 of the ATP1B2 gene" 200922: g. and c. info moved here (g.32551064_32551065insLT796559; c.130_131insLT796559.1) until they can be standardised 2017 28620085
OMIA 002265-9615 dog Irish Terrier Darier disease ATP2A2 insertion, gross (>20) Naturally occurring variant yes CanFam3.1 26 p.(T700Vfs*6) Linek et al. (2020): "a heterozygous SINE insertion [~205bp] into the ATP2A2 gene, at the end of intron 14, close to the boundary of exon 15", giving rise to NP_001003214.1:p.(Thr700Valfs*6) 2020 32354065
OMIA 000640-9615 dog Labrador Retriever Menkes disease ATP7A missense Naturally occurring variant yes CanFam3.1 X g.60279238C>T c.980C>T p.(T327I) rs852523339 rs852523339 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 Naturally occurring variant yes CanFam3.1 22 g.225112G>A c.4358G>A p.(R1453Q) rs851958524 rs851958524 2016 26747866 30 Dec 2020: correct genomic location provided by Angelica K Kallenberg
OMIA 002484-9615 dog Shetland Sheepdog Bardet-Biedl syndrome 2 BBS2 missense Naturally occurring variant yes CanFam3.1 2 g.59693737G>C c.1222G>C p.(A408P) 2021 34828377
OMIA 002045-9615 dog Hungarian Puli Bardet-Biedl syndrome 4 BBS4 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 30 g.36063748A>T c.58A>T p.(K20*) 2017 28533336
OMIA 001592-9615 dog Cavalier King Charles Spaniel Episodic falling BCAN deletion, gross (>20) Naturally occurring variant yes 7 a 15.7kb deletion in the BCAN gene 2012 21821125
OMIA 001554-9615 dog Lapponian Herder Multifocal retinopathy 3 BEST1 cmr3 deletion, small (<=20) Naturally occurring variant yes 18 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 Naturally occurring variant yes 18 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) Naturally occurring variant yes CanFam3.1 18 g.54478586G>A 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 Naturally occurring variant yes 19 IVS10-2A>G 2013 23754947
OMIA 001551-9615 dog Brachycephaly BMP3 missense Naturally occurring variant yes CanFam3.1 32 g.5231894C>A c.1344C>A p.(F448L) rs851217657 rs851217657 2012 22876193 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 Naturally occurring variant yes CanFam3.1 16 g.8296284T>A p.(V595E) 2015 25767210
OMIA 002132-9615 dog German Shorthaired Pointer Abortion (embryonic lethality), BTBD17-related BTBD17 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 9 g.6048201_6048202insG rs852549625 2017 29053721
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) Naturally occurring variant yes 17 c.3149_3150insC 2013 22686255
OMIA 001040-9615 dog Rhodesian Ridgeback Ventricular arrhythmias and sudden death C20H19orf70 missense Naturally occurring variant yes CanFam3.1 20 g.54343438G>A c.325G>A p.(G109S) ENSCAFG00000018796: g.54343438 G>A. ENSCAFT00000029838.4:c.325G>A ENSCAFP00000027731.3:p.G109S) rs852200012 2019 30795627
OMIA 000155-9615 dog Brittany Spaniel C3 deficiency C3 deletion, small (<=20) Naturally occurring variant yes 20 "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 001820-9615 dog Parson Russell Terrier Ataxia, spinocerebellar CAPN1 missense Naturally occurring variant yes 18 c.344G>A p.(C115Y) 2013 23741357
OMIA 001138-9615 dog American Foxhound Beagle Hypocatalasia CAT missense Naturally occurring variant yes CanFam3.1 18 g.33397548C>T c.979G>A p.(A327T) 2000 11137458 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001416-9615 dog Coat colour, dominant black CBD103 ΔG23 = K^B deletion, small (<=20) Naturally occurring variant no CanFam3.1 16 g.58965449_58965451del c.231_233del p.(G78del) "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)" rs851502010 rs851502010 2007 17947548 Genomic location provided by Professor Claire Wade August 2018. Allele designations taken from Ollivier et al. (2013)
OMIA 001540-9615 dog Old English Sheepdog Ciliary dyskinesia, primary CCDC39 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 34 g.13952270G>A 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) Naturally occurring variant yes 20 c.521_522insA p.(N174Kfs) "a 1-bp insertion in exon 6 leading to a stop codon" 2010 19777273
OMIA 001521-9615 dog Portugese water dog Progressive retinal atrophy, early onset CCDC66 EOPRA insertion, small (<=20) Naturally occurring variant yes CanFam3.1 20 g.33717704_33717705insT c.2262_c.2263insA p.(V747Sfs*8) 2020 33273526
OMIA 002072-9615 dog Old Danish Pointing Dog Myasthenic syndrome, congenital CHAT missense Naturally occurring variant 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 000685-9615 dog Jack Russell Terrier Myasthenic syndrome, congenital, due to CHRNE CHRNE insertion, small (<=20) Naturally occurring variant yes 5 c.633_634insC p.(G212Rfs*274) 2015 26429099
OMIA 000685-9615 dog Heideterrier Myasthenic syndrome, congenital, due to CHRNE CHRNE insertion, small (<=20) Naturally occurring variant yes CanFam3.1 5 g.31707450_31707451insG c.1436_1437insG p.(S479Rfs*14) 2017 28508416
OMIA 000698-9615 dog Australian Cattle Dog Border Collie Myotonia CLCN1 insertion, small (<=20) Naturally occurring variant yes 16 c.2665insA p.(R889fs) 2007 17552451 Variant information gleaned from or confirmed by Donner et al. (2016) PLoS One 11:e0161005
OMIA 000698-9615 dog Labrador Retriever Myotonia CLCN1 nonsense (stop-gain) Naturally occurring variant 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 Naturally occurring variant yes CanFam3.1 16 g.6366383G>A c.803C>T p.(T268M) 1999 10452529 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000698-9615 dog American Bulldog Myotonia CLCN1 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 16 g.6369245_6369246insAGAG c.436_437insCTCT p.(Y146Sfs*49) cDNA and protein position based on NM_001003124.2 and NP_001003124.1 2020 33246886
OMIA 001482-9615 dog Golden Retriever Neuronal ceroid lipofuscinosis, 5 CLN5 deletion, small (<=20) Naturally occurring variant yes 22 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) Naturally occurring variant yes CanFam3.1 22 g.30574637C>T c.619C>T p.(Q207*) rs1152388418 rs1152388418 2005 16033706 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool 30 Dec 2020: g. coordinate corrected, with thanks to Angelica K Kallenberg
OMIA 001443-9615 dog Australian Shepherd Neuronal ceroid lipofuscinosis, 6 CLN6 missense Naturally occurring variant yes CanFam3.1 30 g.32247875A>G c.829T>C p.(W277R) rs1152388420 2011 21234413 Variant coordinates obtained from or confirmed by EBI's Variant Effect Predictor (VEP) tool
OMIA 001506-9615 dog Alpenländische Dachsbracke Neuronal ceroid lipofuscinosis, 8 CLN8 deletion, gross (>20) Naturally occurring variant 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) Naturally occurring variant yes CanFam3.1 37 g.30874636dupT c.349dupT p.(E117*) "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 Naturally occurring variant 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 German Shorthaired Pointer Neuronal ceroid lipofuscinosis, 8 CLN8 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 37 g.30883950G>A c.585G>A p.(W195*) NM_001012343: c.585G>A (Guo et al., 2014) 2014 24953404 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; confirmed by Guo et al. (2019, pages 3, 4, 5 and 6), assuming that the g. coordinate (g.30,895,648) in the abstract of Guo et al. (2019) is a typo.
OMIA 001977-9615 dog Shetland Sheepdog Progressive retinal atrophy, due to CNGA1 mutations CNGA1 deletion, small (<=20) Naturally occurring variant yes 13 c.1752_1755delAACT 2015 26202106
OMIA 001481-9615 dog German Shepherd Dog Achromatopsia-2 CNGA3 missense Naturally occurring variant yes 10 c.1270C>T p.(R424W) 2015 26407004
OMIA 001481-9615 dog Labrador Retriever Achromatopsia-2 CNGA3 deletion, small (<=20) Naturally occurring variant yes 10 c.1931_1933delTGG p.(V644del) 2015 26407004
OMIA 000830-9615 dog Papillon Phalène Progressive retinal atrophy CNGB1 delins, small (<=20) Naturally occurring variant yes 2 c.2685delA2687_2688insTAGCTA p.(Y889Sfs*5) 2013 24015210
OMIA 001365-9615 dog Alaskan Malamute Miniature Australian shepherd Achromatopsia (cone degeneration, hemeralopia), AMAL CNGB3 deletion, gross (>20) Naturally occurring variant yes 29 "deletion removing all exons of canine CNGB3" 2002 12140185
OMIA 001676-9615 dog German Shorthaired Pointer Achromatopsia (cone degeneration, hemeralopia), GSPT CNGB3 missense Naturally occurring variant yes CanFam3.1 29 g.32837065C>T c.784G>A p.(D262N) 2002 12140185 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool 30 Dec 2020 Chromosome corrected, thanks to Angelica K Kallenberg
OMIA 002301-9615 dog Labrador Retriever Leonberger Saint Bernard Laryngeal paralysis and polyneuropathy CNTNAP1 LPPN3 missense Naturally occurring variant yes CanFam3.1 9 g.20298261C>T c.2810G>A p.(G937E) XM_548083.6:c.2810G>A; XP_548083.3:p.Gly937Glu rs24587752 rs24587752 2020 33261176
OMIA 001772-9615 dog Labrador Retriever Skeletal dysplasia 2 (SD2) COL11A2 missense Naturally occurring variant yes CanFam3.1 12 g.2652874C>G c.143G>C p.(R48P) rs851399084 2013 23527306 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002126-9615 dog Golden Retriever Osteogenesis imperfecta, type III, COL1A1-related COL1A1 missense Naturally occurring variant yes 9 c.1276G>C p.(G208A) 2000 11147834
OMIA 002112-9615 dog Beagle Osteogenesis imperfecta, COL1A2-related COL1A2 delins, small (<=20) Naturally occurring variant yes 14 "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 Lagotto Romagnolo Osteogenesis imperfecta, COL1A2-related COL1A2 duplication Naturally occurring variant yes CanFam3.1 14 g.19898279_19898281dup c.877_879dupCCC p.(P293dup) NM_001003187.1:c.877_879dupCCC; NP_001003187.1:p.Pro293dup 2019 31468557
OMIA 002112-9615 dog Chow Chow Osteogenesis imperfecta, COL1A2-related COL1A2 splicing Naturally occurring variant yes CanFam3.1 14 g.19898487G>A c.936+1G>A 2018 29036614
OMIA 000710-9615 dog English Springer Spaniel Nephropathy COL4A4 nonsense (stop-gain) Naturally occurring variant yes 25 c.2806C>T p.(Q904*) 2012 22369189
OMIA 000710-9615 dog English Cocker Spaniel Nephropathy COL4A4 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 25 g.39953906T>A 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) Naturally occurring variant yes X a 10 base pair deletion in exon 9 of COL4A5 2008 18931484
OMIA 001112-9615 dog Samoyed Nephritis, X-linked COL4A5 nonsense (stop-gain) Naturally occurring variant 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 002165-9615 dog Labrador Retriever Ehlers-Danlos syndrome, classic type, 1 COL5A1 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 9 g.50806169del c.3038delG p.(G1013Vfs*260) XM_022423936.1,c.3038delG. This "variant arose by a de novo mutation event during the development of the mother." (Bauer et al., 2019) 2019 31546637
OMIA 002165-9615 dog Mixed breed Ehlers-Danlos syndrome, classic type, 1 COL5A1 missense Naturally occurring variant yes CanFam3.1 9 g.50832936G>A c.4711G>A p.(G1571R) XM_022423936.1,c.4711G>A; XP_022279644.1,p.(Gly1571Arg) 2019 31546637
OMIA 001967-9615 dog Landseer Muscular dystrophy, Ullrich type COL6A1 nonsense (stop-gain) Naturally occurring variant yes 31 c.289C>T p.(Q97*) 2015 26438297
OMIA 002274-9615 dog Labrador Retriever Muscular dystrophy, COL6A3-related COL6A3 splicing Naturally occurring variant yes CanFam3.1 25 g.48007994C>T c.6210+1G>A CanFam3.1 chr25:48,007,994C > T; NM_001103215.1 c.6210 + 1G > A (Bolduc et al., 2020) 2020 32439203
OMIA 002274-9615 dog Labrador Retriever Muscular dystrophy, COL6A3-related COL6A3 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 25 g.48014962G>A c.4726C>T p.(R1576*) CanFam3.1 chr25:48,014,962G > A; NM_001103215.1 c.4726C > T, p.R1576* (Bolduc et al., 2020) 2020 32439203
OMIA 000341-9615 dog Basset Hound Epidermolysis bullosa, dystrophic COL7A1 complex rearrangement Naturally occurring variant yes CanFam3.1 20 c.2028_2034del; c.1993_2050+56dup p.(V677Sfs*11) The variant is a "complex duplication event spanning parts of exon 15 and intron 15 of the COL7A1 gene, starting at position 40,524,267 and ending at 40,524,380 on chromosome 20 (CanFam3.1 assembly) (Garcia et al., 2020). cDNA and protein positions are based on NM_001002980.1 and NP_01002980.1, respectively. 2020 33291836
OMIA 000341-9615 dog Central Asian Shepherd Epidermolysis bullosa, dystrophic COL7A1 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 20 g.40532043C>T c.4579C>T p.(R1527*) 2017 28493971 Variant coordinates obtained from or confirmed by EBI's Variant Effect Predictor (VEP) tool
OMIA 000341-9615 dog Golden Retriever Epidermolysis bullosa, dystrophic COL7A1 missense Naturally occurring variant 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 001523-9615 dog Samoyed Oculoskeletal dysplasia 2 COL9A2 deletion, gross (>20) Naturally occurring variant yes 15 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) Naturally occurring variant yes CanFam3.1 24 g.46653422_46653423insG c.10_11insG Goldstein et al. (2010): "a 1-base insertion (guanine) in exon 1 that changes a string of four guanines (CFA24: 49,699,847–49,699,850; CanFam2) to a string of five guanines (c. 7–10 insG). This shifts the open reading frame of the putative protein, alters amino acids 4–48, and introduces a premature stop codon at codon 49 (p.A4GX46)" 200922: to render this consistent with HGVS nomenclature, I am assuming that the insertion is after the last nucleotide, i.e. g.49,699,847_49,699,850insG becomes g.49699850_49699851insG; and c. 7_10insG becomes c.10_11insG. The p. info (p.A4GX46) has been removed until it can be standardised 2010 20686772
OMIA 001522-9615 dog Northern Inuit Dog Oculoskeletal dysplasia 1 COL9A3 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 24 g.46660067C>T c.700C>T p.(R234*) 2019 31415586
OMIA 001988-9615 dog Bedlington Terrier Wilson disease, COMMD1 type COMMD1 deletion, gross (>20) Naturally occurring variant 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 001505-9615 dog American Bulldog Neuronal ceroid lipofuscinosis, 10 CTSD missense Naturally occurring variant yes CanFam3.1 18 g.46013354C>T 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) Naturally occurring variant yes CanFam3.1 2 g.19796293del c.786delC p.(D262Efs*47) rs1152388404 rs1152388404 2014 24164695
OMIA 001786-9615 dog Border Collie Intestinal cobalamin malabsorption due to CUBN mutation CUBN deletion, small (<=20) Naturally occurring variant yes CanFam3.1 2 g.19974334del c.8392delC p.(Q2798Rfs*3) 2013 23613799
OMIA 001786-9615 dog Komondor Intestinal cobalamin malabsorption, CUBN-related CUBN splicing Naturally occurring variant yes CanFam3.1 2 g.19981457G>A c.8746+1G>A Fyfe et al. (2018): NM_001003148.1: c.8746 + 1G > A 2018 30591068
OMIA 002131-9615 dog Pomeranian Methemoglobinaemia, CYB5R3-related CYB5R3 missense Naturally occurring variant yes CanFam3.1 10 c.580A>C p.(I194L) 2018 29356095
OMIA 002131-9615 dog Mixed breed Methemoglobinaemia, CYB5R3-related CYB5R3 missense Naturally occurring variant yes CanFam3.1 10 g.22832963G>A c.214G>A p.(G72S) 2017 28963729 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001405-9615 dog Beagle Metabolizer of a cognitive enhancer CYP1A2 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 30 g.37821686C>T c.1117C>T p.(R373*) rs852922442 rs852922442 2004 15564884 Variant coordinates obtained from or confirmed by EBI's Variant Effect Predictor (VEP) tool
OMIA 001130-9615 dog Australian Cattle Dog Shetland Sheepdog Leucodystrophy CYTB missense Naturally occurring variant 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 002095-9615 dog Rhodesian Ridgeback Epilepsy, generalized myoclonic, with photosensitivity DIRAS1 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 20 c.564_567delAGAC 2017 28223533
OMIA 001919-9615 dog Nova Scotia Duck Tolling retriever Cleft palate 1 DLX6 insertion, gross (>20) Naturally occurring variant 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 Naturally occurring variant yes X 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 Naturally occurring variant yes X "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) Naturally occurring variant yes X 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 Shorthaired Pointer Muscular dystrophy, Duchenne type DMD deletion, gross (>20) Naturally occurring variant yes X a "deletion encompassing the entire dystrophin [DMD] gene" 1999 10407848
OMIA 001081-9615 dog Tibetan Terrier Muscular dystrophy, Duchenne type DMD deletion, gross (>20) Naturally occurring variant yes X "a large deletion of exons 8-29" 2012 22218699
OMIA 001081-9615 dog Pembroke Welsh Corgi Muscular dystrophy, Duchenne type DMD insertion, gross (>20) Naturally occurring variant yes X "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) Naturally occurring variant yes X "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 Naturally occurring variant yes X "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 001081-9615 dog Rottweiler Muscular dystrophy, Duchenne type DMD nonsense (stop-gain) Naturally occurring variant yes X "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) Naturally occurring variant yes X "a >5 Mb deletion on the X chromosome, encompassing the entire DMD gene" 2018 29474464
OMIA 001081-9615 dog Australian Labradoodle Australian Labradoodle dystrophinopathy DMD nonsense (stop-gain) Naturally occurring variant yes X "a C to T transition at base pair 43 in exon 21 of the dystrophin gene" (Shrader et al., 2018) 2018 30286978
OMIA 001081-9615 dog Cavalier King Charles Spaniel Muscular dystrophy, Duchenne type DMD deletion, small (<=20) Naturally occurring variant yes X c.6051_6057delTCTCAAT 2016 28028563
OMIA 001081-9615 dog Norfolk Terrier Muscular dystrophy, Duchenne type DMD deletion, small (<=20) Naturally occurring variant yes CanFam3.1 X g.27606021del c.3084delG p.(G1029Nfs*30) 2015 26401335
OMIA 001081-9615 dog Jack Russell Terrier Duchenne-type muscular dystrophy DMD deletion, gross (>20) Naturally occurring variant yes CanFam3.1 X g.27615280_27982912del CanFam 3.1 chr X g.27,615,280_27,982,912del (Brunetti et al., 2020) 2020 33049940
OMIA 001081-9615 dog Labrador Retriever Labrador Retriever muscular dystrophy (LRMD) DMD inversion Naturally occurring variant yes CanFam3.1 X g.27622834_29823788inv 2020 32767978
OMIA 001081-9615 dog Border Collie Muscular dystrophy, Duchenne DMD deletion, small (<=20) Naturally occurring variant yes CanFam3.1 X g.27626466del c.2841delT 2018 29843823
OMIA 001466-9615 dog Chesapeake Bay Retriever Curly-coated retriever Labrador Retriever Exercise-induced collapse DNM1 missense Naturally occurring variant yes CanFam3.1 9 g.55282762C>A c.767G>T p.(R256L) rs852832685 2008 18806795 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002266-9615 dog Rottweiler Hyperkeratosis, palmoplantar, DSG1-related DSG1 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 7 g.58163636_58163640del c.2541_2545delGGGCT p.(G848Wfs*2) "It is a frameshift variant, NM_001002939.1:c.2541_2545delGGGCT, predicted to truncate 207 amino acids from the C-terminus of the wildtype DSG1 protein, NP_001002939.1:p.(Gly848Trpfs*2)" (Backel et al., 2020) 2020 32344723
OMIA 002186-9615 dog Boston Terrier Bulldog French Bulldog Screw tail DVL2 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 5 g.32195043_32195044del c.2044delC p.(P684Lfs*26) 2018 30521570
OMIA 000543-9615 dog German Shepherd Dog Anhidrotic ectodermal dysplasia EDA splicing Naturally occurring variant yes X c.910-1G>A 2005 16151697
OMIA 000543-9615 dog Dachshund X-linked hypohidrotic ectodermal dysplasia EDA deletion, small (<=20) Naturally occurring variant yes CanFam3.1 X g.54509504del c.842delT p.(L281Hfs*22) 2018 30276836
OMIA 001805-9615 dog Italian Greyhound Amelogenesis imperfecta ENAM deletion, small (<=20) Naturally occurring variant yes 13 c.1991_1995delTTTCC p.(F665Rfs*3) 2013 23638899
OMIA 001805-9615 dog Parson Russell Terrier Amelogenesis imperfecta ENAM missense Naturally occurring variant yes CanFam3.1 13 c.716C>T p.(P239L) 2019 30877375
OMIA 001214-9615 dog American Staffordshire Terrier Osteochondromatosis EXT2 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 18 c.969C>A p.(Y323*) g.5101754G>T position needs to be reviewed 2018 29485212
OMIA 000363-9615 dog Kerry Blue Terrier Factor XI deficiency F11 insertion, gross (>20) Naturally occurring variant yes 16 "a short interspersed nucleotide element (SINE) insertion" 2006 Reference not in PubMed; see OMIA 000363-9615 for reference details
OMIA 000361-9615 dog Beagle Factor VII deficiency F7 missense Naturally occurring variant yes CanFam3.1 22 g.60578895G>A c.407G>A p.(G136E) 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 Naturally occurring variant yes X intronic inversion that results in "aberrant splicing and premature termination" 2002 12008949
OMIA 000437-9615 dog Boxer Haemophilia A F8 missense Naturally occurring variant yes X c.1412C>G p.(P471R) 2014 25040606
OMIA 000437-9615 dog German Shepherd Dog Haemophilia A F8 missense Naturally occurring variant yes X c.1643G>A p.(C548Y) 2014 25040606
OMIA 000437-9615 dog Old English Sheepdog Haemophilia A F8 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 X g.122973422G>A 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) Naturally occurring variant yes CanFam3.1 X g.123043081C>T c.98G>A p.(W33*) 2011 21949058 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000437-9615 dog Rhodesian Ridgeback Haemophilia A F8 insertion, gross (>20) Naturally occurring variant yes CanFam3.1 X g.1240738676_77ins221 c.4824_25ins221 NM_001003212.1:c.4824_25ins22 2021 33494213
OMIA 000438-9615 dog Labrador Retriever Haemophilia B F9 deletion, gross (>20) Naturally occurring variant yes X a deletion of the entire gene 1997 9394892
OMIA 000438-9615 dog Pit Bull Terrier Haemophilia B F9 deletion, gross (>20) Naturally occurring variant yes X Gu et al. (1999): "A large deletion mutation was found in 1 breed variant, spanning the entire 5' region of the factor IX gene extending to exon 6". 1999 10544912 Following Table 3 from Kuder et al. (2021), the breed for this variant has been changed to Pit Bull Terrier. (18th October 2021)
OMIA 000438-9615 dog Hovawart Haemophilia B F9 regulatory Naturally occurring variant yes CanFam3.1 X g.109501492del 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) Naturally occurring variant yes CanFam3.1 X g.109521130_109521131insLINE1 A 1.5kb LINE1 insertion in exon 5. g coordinate of insertion obtained from Brenig et al. (2019) 200922: g. info moved here (g.109521130ins) until can be standardised 2003 14722728 CanFam3.1 coordinates copied from Table 3 of Kuder et al. (2021) (18 Oct 2021)
OMIA 000438-9615 dog Lhasa Apso Haemophilia B F9 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 X g.109521356_109521361delinsT c.548_553delinsT p.(R183LfsTer3) "a deletion including nucleotides 772-776 and a C-->T transition at nucleotide 777" 1996 8896410 CanFam3.1 coordinates copied from Table 3 of Kuder et al. (2021) (18 Oct 2021)
OMIA 000438-9615 dog Rhodesian Ridgeback Haemophilia B F9 missense Naturally occurring variant yes CanFam3.1 X g.109530847G>A c.731G>A p.(G237E) Kuder et al. (2021): NM_001003323.2): c.731G>A; NP_001003323.1: p.(G237E) 2011 20303304 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool, except for p. coordinates, which were copied from Table 3 of Kuder et al. (2021) relating to NP_001003323.1 (18th October 2021)
OMIA 000438-9615 dog Newfoundland Haemophilia B F9 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 X g.109531586_109531587insA c.821_822insA p.(Asn274LysfsTer23) Kuder et al. (2021): CanFam3.1, NC_006621.3; NM_001003323.2: c.821_822insA; NP_001003323.1: p.Asn274LysfsTer23) 2021 34680886
OMIA 000438-9615 dog Airedale Terrier Haemophilia B F9 insertion, gross (>20) Naturally occurring variant yes CanFam3.1 X g.109532012_13ins c.1247_1248ins Gu et al. (1999): "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 CanFam3.1 coordinates copied from Table 3 of Kuder et al. (2021) (18 Oct 2021)
OMIA 000438-9615 dog Cairn Terrier Haemophilia B F9 missense Naturally occurring variant yes CanFam3.1 X g.109532018G>A c.1253G>A p.(G418E) Kuder et al. (2021): NM_001003323.2): c.1253G>A; NP_001003323.1: p.(G418E) 1989 2481310 c. and p. coordinates updated from Kuder et al. (2021)
OMIA 002032-9615 dog Border Collie Mixed breed Neuropathy, sensory FAM134B inversion Naturally occurring variant yes 4 "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 002032-9615 dog Mixed breed Neuropathy, sensory FAM134B missense Naturally occurring variant yes CanFam3.1 4 g.86916562C>T c.656C>T p.(P219L) cDNA information based on NM_001314111.1 2021 34387380
OMIA 001918-9615 dog Tibetan Spaniel Tibetan Terrier Progressive retinal atrophy, type 3, FAM161A-related FAM161A insertion, gross (>20) Naturally occurring variant yes CanFam2.0 10 A ~230bp insertion containing a 132bp short interspersed nuclear element (SINE), near the splice acceptor site of exon 5 200922: g. info moved here (g.64974130) until can be standardised 2014 24705771
OMIA 002015-9615 dog Border Collie Dental hypomineralization FAM20C missense Naturally occurring variant yes CanFam3.1 6 g.16452327G>A 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 Naturally occurring variant 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) Naturally occurring variant yes 13 c.977delC p.(P326Hfs*258) 2012 22253609
OMIA 000366-9615 dog Basenji Fanconi syndrome FAN1 deletion, gross (>20) Naturally occurring variant yes 3 "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 001525-9615 dog German Shepherd Dog Leukocyte adhesion deficiency, type III FERMT3 insertion, small (<=20) Naturally occurring variant yes 18 "12-base pair insertion" 2010 20126836
OMIA 002382-9615 dog Miniature Wirehaired Dachshund Afibrinogenaemia FGA deletion, small (<=20) Naturally occurring variant yes CanFam3.1 15 g.52240694del c.1665delT p.(I555Mfs*33) Transcript XM_532697.6 / ENSCAFT00000043702.3 rs1152388481 rs1152388481 2021 34356081
OMIA 000272-9615 dog Rhodesian Ridgeback Thai Ridgeback Ridge & dermoid sinus FGF3 Ridge allele duplication Naturally occurring variant yes 18 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) Naturally occurring variant 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) Naturally occurring variant yes CanFam3.1 12 " 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) . . . ." 200922: g. info moved here (g.33710178_33710179insMF040221) until can be standardised 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 Bulldog Nova Scotia Duck Tolling retriever Intervertebral disc disease, type I FGF4 retrogene in CFA12 insertion, gross (>20) Naturally occurring variant yes CanFam3.1 12 " 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) . . . ." 200922: g. info moved here (g.33710178_33710179insMF040221) until it can be standardised 2017 29073074
OMIA 000439-9615 dog Eurasier Long hair FGF5 deletion, small (<=20) Naturally occurring variant no CanFam3.1 32 c.556_571del16 p.(A186Tfs*69) 2013 23384345
OMIA 000439-9615 dog Afghan Hound Eurasier Long hair FGF5 duplication Naturally occurring variant no CanFam3.1 32 c.559_560dupGG p.(R188Afs*73) 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 Naturally occurring variant no CanFam3.1 32 g.4509367G>T c.284G>T p.(C95F) rs851828354 2006 16879338 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000439-9615 dog Afghan Hound Long hair FGF5 splicing Naturally occurring variant no CanFam3.1 32 g.4517257T>A rs397511324 2013 23384345 30 Dec 2020: g. coordinate corrected: thanks to Angelica K Kallenberg
OMIA 000439-9615 dog Akita Samoyed Long hair FGF5 missense Naturally occurring variant 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 001335-9615 dog German Shepherd Dog Renal cystadenocarcinoma and nodular dermatofibrosis FLCN missense Naturally occurring variant yes CanFam3.1 5 g.42186445A>G c.764A>G p.(H255R) rs1152388411 rs1152388411 2003 14532326 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000526-9615 dog Weimaraner Hypomyelination of the central nervous system FNIP2 deletion, small (<=20) Naturally occurring variant yes 15 c.880delA p.(I294fs*296) cDNA position based on XM_532705 2014 24272703
OMIA 000323-9615 dog Chinese Crested Dog Mexican Hairless Dog (Xoloitzcuintli) Peruvian Hairless Dog (Inca Hairless) Ectodermal dysplasia FOXI3 insertion, small (<=20) Naturally occurring variant yes 17 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) Naturally occurring variant yes 2 a 14-bp deletion at the 3' end of exon 1 1996 8730282
OMIA 000418-9615 dog Maltese Glycogen storage disease Ia G6PC missense Naturally occurring variant yes 9 c.450G>C p.(M121I) 1997 9259982
OMIA 000418-9615 dog German Pinscher Glycogen storage disease Ia G6PC insertion, gross (>20) Naturally occurring variant unknown CanFam3.1 9 g.20134857_20134858ins76 c.634_635ins76 XM_038676372.1:c.634_635ins76; insertion of 60 consecutive adenines and an additional 16 bp duplication of the integration site (Christen et al., 2021) 2021 34610166
OMIA 000419-9615 dog Finnish Lapphund Swedish Lapphund Glycogen storage disease II GAA nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 9 g.1603730C>T c.2237G>A p.(W746*) 2013 23457621 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000578-9615 dog Irish Setter Krabbe disease GALC insertion, gross (>20) Naturally occurring variant yes 8 "a 78 bp insertion" 2006 16490723
OMIA 000578-9615 dog Cairn Terrier West Highland White Terrier Krabbe disease GALC missense Naturally occurring variant yes 8 c.473A>C p.(Y158S) 1996 8661004
OMIA 002362-9615 dog Entlebucher mountain dog Fecundity GDF9 missense Naturally occurring variant no CanFam3.1 11 g.21147009G>A p.(P77S) 2020 31802524
OMIA 001514-9615 dog English Pointer English Springer Spaniel French Spaniel German Shorthaired Pointer Acral mutilation syndrome GDNF regulatory Naturally occurring variant yes CanFam3.1 4 g.70875561C>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
OMIA 001208-9615 dog Labrador Retriever Alexander disease GFAP missense Naturally occurring variant yes CanFam3.1 9 g.18572769G>A c.719G>A p.(R240H) rs850986067 rs850986067 2016 26486469 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001473-9615 dog Chihuahua Dwarfism, growth-hormone deficiency GH1 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 9 c.573_578del 2020 32646299
OMIA 002119-9615 dog Leonberger Polyneuropathy (LPN2) GJA9 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 15 g.3863524_3863525del c.1107_1108delAG p.(A370Nfs*12) 2017 28841859
OMIA 000402-9615 dog Shiba Gangliosidosis, GM1 GLB1 deletion, small (<=20) Naturally occurring variant yes 23 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) Naturally occurring variant yes 23 a 19 base pair duplication in exon 15 2001 11355658
OMIA 000402-9615 dog Portugese water dog Gangliosidosis, GM1 GLB1 missense Naturally occurring variant yes 23 c.200G>A p.(R60H) 2000 11032334
OMIA 002207-9615 dog Cocker Spaniel Bernard-Soulier syndrome, type C GP9 deletion, gross (>20) Naturally occurring variant yes CanFam3.1 20 g.3025814_3028273del Gentilini et al. (2019): "The [2460bp] deletion truncates 104 (71%) of the 146 codons of the wildtype canine reading frame." 2019 31484196
OMIA 000078-9615 dog Coton de Tulear Ataxia, cerebellar GRM1 insertion, gross (>20) Naturally occurring variant yes 1 "a 62-bp truncated retrotransposon insert in exon 8" 2011 21281350
OMIA 000667-9615 dog Brazilian Terrier Mucopolysaccharidosis VII GUSB missense Naturally occurring variant yes CanFam3.1 6 g.740428G>A 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 Naturally occurring variant yes CanFam3.1 6 g.741429C>T c.497G>A p.(R166H) rs1152388412 1998 9521879 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) Naturally occurring variant yes 2 200922: g. info moved here (g.9459_9460ins236) until it can be standardised 2005 15829503
OMIA 001561-9615 dog Shar-Pei Periodic Fever Syndrome HAS2 insertion, gross (>20) Naturally occurring variant yes 13 "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 Naturally occurring variant 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 Pinscher Narcolepsy HCRTR2 splicing Naturally occurring variant yes 12 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 Naturally occurring variant 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 001944-9615 dog Miniature Schnauzer Spondylocostal dysostosis, autosomal recessive HES7 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 5 g.32945846del c.126delG p.(T43Pfs*24) 2015 25659135
OMIA 001461-9615 dog Japanese Chin dog Gangliosidosis, GM2, type I HEXA missense Naturally occurring variant yes CanFam3.1 30 g.35841247C>T c.967G>A p.(E323K) 2013 23266199 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001462-9615 dog Toy Poodle Gangliosidosis, GM2, type II (Sandhoff or variant 0) HEXB deletion, small (<=20) Naturally occurring variant yes 2 c.283delG p.(V59fs) 2012 22766310
OMIA 001462-9615 dog Shiba-Inu Gangliosidosis, GM2, type II (Sandhoff or variant 0) HEXB deletion, small (<=20) Naturally occurring variant yes CanFam3.1 2 g.57243656_57243658del c.618_620delCCT p.(L317del) 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 002252-9615 dog Miniature Schnauzer Progressive retinal atrophy, Miniature Schnauzer, type 1 HIVEP3 regulatory Naturally occurring variant yes CanFam3.1 15 g.1432293G>A "intronic variant in HIVEP3/ENSCAFG00000035604" (Kaukonen et al., 2020) 2020 32150541
OMIA 002275-9615 dog French Bulldog Cocoa HPS3 HPS3^co nonsense (stop-gain) Naturally occurring variant no CanFam3.1 23 g.43969695G>A c.2420G>A p.(T807*) XM_542830.6:c.2420G>A; XP_542830.3:p.(Trp807*) 2020 32526956
OMIA 001601-9615 dog Dachshund Disorder of sexual development, 78,XY, SRY-positive HSD17B3 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 1 g.70554301_70554302del deletion CA 2019 31476086
OMIA 001758-9615 dog Australian Shepherd Cataract, early onset HSF4 deletion, small (<=20) Naturally occurring variant yes 5 g.85286582del deletion C 2006 16939467
OMIA 001758-9615 dog Staffordshire Bull Terrier Cataract, early onset HSF4 insertion, small (<=20) Naturally occurring variant yes 5 g.85286582_85286583insC 2006 16939467
OMIA 000664-9615 dog Golden Retriever Mucopolysaccharidosis I IDUA deletion, gross (>20) Naturally occurring variant yes CanFam3.1 3 g.91523238_91523524del c.1400-76_1521+89del p.(G467_E507del) "NC_006585.3(NM_001313883.1):c.1400-76_1521+89del; NC_006585.3:g.91523238_91523524del . . . NP_001300812.1:p.(Gly467_Glu507del)" (Faller et al., 2020) 2020 32785987
OMIA 000664-9615 dog Plott Hound Mucopolysaccharidosis I IDUA splicing Naturally occurring variant yes CanFam3.1 3 g.91534420C>T c.155+1G>A rs1152388407 1992 1339393 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 000664-9615 dog Boston Terrier Mucopolysaccharidosis I IDUA insertion, small (<=20) Naturally occurring variant yes CanFam3.1 3 g.91534556_91534557insGGGGGCCG 2020 32300136
OMIA 002320-9615 dog Lapponian Herder Progressive retinal atrophy IFT122 missense Naturally occurring variant yes CanFam3.1 20 g.5648046C>T c.3176G>A p.(R1059H) Protein and CDS positions based on XP_533734.2 and XM_533734.6 2021 33606121
OMIA 000899-9615 dog Basset Hound Severe combined immunodeficiency disease, X-linked IL2RG deletion, small (<=20) Naturally occurring variant yes X 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) Naturally occurring variant yes X a single nucleotide insertion causing a frameshift 1995 8571541
OMIA 002289-9615 dog Lhasa Apso Progressive retinal atrophy 4 (PRA4) IMPG2 insertion, gross (>20) Naturally occurring variant yes CanFam3.1 33 " LINE-1 insertion was identified within the critical region in this PRA-affected LA, situated within 200 bp upstream of the interphotoreceptor matrix proteoglycan 2 (IMPG2) gene within the following coordinates: CANFA33: 7,785,475-7,785,491" (Hitti-Malin et al., 2020) 2020 32894063
OMIA 002173-9615 dog Norwich Terrier Diffuse cystic renal dysplasia and hepatic fibrosis INPP5E splicing Naturally occurring variant 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 001675-9615 dog American Pit Bull Terrier Cone-rod dystrophy 2 IQCB1 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 33 g.25078909_25078910insC c.952_53insC p.(S319Ifs*12) 2013 24045995
OMIA 001886-9615 dog Karelian bear dog Norwegian Elkhound Chondrodysplasia, disproportionate short-limbed ITGA10 nonsense (stop-gain) Naturally occurring variant yes 17 c.2083C>T p.(R695*) 2013 24086591
OMIA 001000-9615 dog Great Pyrenees Thrombasthenia ITGA2B splicing Naturally occurring variant yes 9 "a 14-base insertion in exon 13 and defective splicing of intron 13" 2000 11105947
OMIA 001000-9615 dog Scottish Deerhound Thrombasthenia ITGA2B missense Naturally occurring variant yes 9 c.1100G>C p.(D367H) 2001 11703027
OMIA 000595-9615 dog Irish Setter Leukocyte adhesion deficiency, type I ITGB2 missense Naturally occurring variant yes CanFam3.1 31 g.38537012C>G c.107G>C p.(C36S) rs1152388503 1999 10512685 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002097-9615 dog Italian Spinone Ataxia, spinocerebellar ITPR1 complex rearrangement Naturally occurring variant yes 20 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 Naturally occurring variant yes 1 c.[1849G>T;1852T>C;1853G>T] p.(V617_C618delinsFL) a three-base change in codons 617 and 618 of JAK2 giving rise to V617F and C618L 2011 21320566
OMIA 002240-9615 dog Norwegian Buhund Ataxia, cerebellar, KCNIP4-related KCNIP4 missense Naturally occurring variant yes CanFam3.1 3 g.88890674T>C p.(T?R) NC_006585.3:g.88890674T>C (Jenkins et al., 2020) 2020 31999692
OMIA 002089-9615 dog Jack Russell Terrier Parson Russell Terrier Smooth-Haired Fox Terrier Ataxia, cerebellar, KCNJ10-related KCNJ10 missense Naturally occurring variant yes 38 c.627C>G p.(I209M) 2014 24708069
OMIA 002089-9615 dog Malinois Spongy degeneration with cerebellar ataxia 1 (SDCA1) KCNJ10 missense Naturally occurring variant yes 38 c.986T>C p.(L329P) 2017 27966545 28007838
OMIA 002089-9615 dog Jack Russell Terrier Ataxia, cerebellar, KCNJ10-related KCNJ10 insertion, small (<=20) Naturally occurring variant yes 38 g.22141027insC 2016 27724896
OMIA 001737-9615 dog Coat colour, white spotting, KIT-related KIT insertion, small (<=20) Naturally occurring variant no 13 "a 1-bp insertion of an adenine 70 bases downstream of the beginning of exon 2." 2013 23134432
OMIA 001737-9615 dog Coat colour, white spotting, KIT-related KIT deletion, small (<=20) Naturally occurring variant no 13 c.1960_1962delCTC p.(L654del) 2013 23659249
OMIA 001516-9615 dog Gastrointestinal stromal tumor KIT deletion, small (<=20) Naturally occurring variant yes CanFam3.1 13 g.47178531_47178536del deletion of AGTGGA 2010 20950418
OMIA 001516-9615 dog Gastrointestinal stromal tumor KIT deletion, small (<=20) Naturally occurring variant yes CanFam3.1 13 g.47178534_47178539del deletion of GGAAGG 2010 20950418
OMIA 001787-9615 dog Standard Poodle Squamous cell carcinoma of the digit KITLG repeat variation Naturally occurring variant yes 15 a copy number variant (CNV) of KITLG 2013 23555311
OMIA 002228-9615 dog Nova Scotia Duck Tolling retriever Poodle Pigment intensity KITLG repeat variation Naturally occurring variant no CanFam3.1 15 Weich et al. (2020): "the reference genome shows two tandem copies of the CNV spanning a region of approximately 12 kb. The CNV is located in an intergenic region about 152 kb upstream from the closest gene, KITLG." 200922: g. info moved here (g.29821450_29832950) until it can be standardised 2020 31936656
OMIA 000819-9615 dog Shih-Tzu Prekallikrein deficiency KLKB1 missense Naturally occurring variant yes CanFam3.1 16 g.44501415A>T 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 Naturally occurring variant yes 9 "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 Naturally occurring variant yes 9 p.(E392*) 2015 25521457
OMIA 000245-9615 dog Bichon Frise Chesapeake Bay Retriever Curly-coated retriever Irish Terrier Lagotto Romagnolo Spanish water dog Curly coat KRT71 c^2 delins, small (<=20) Naturally occurring variant no 27 c.1266_1273delinsACA p.(S422Rfs) Bauer et al. (2019) and Salmela et al. (2019): NM_001197029.1:c.1266_1273delinsACA; NP_001183958.1:p.Ser422ArgfsTer? 2019 30444027 30456859
OMIA 000245-9615 dog Portugese water dog Curly coat KRT71 c^1 missense Naturally occurring variant no 27 c.451C>T p.(R151W) 2009 19713490
OMIA 001371-9615 dog Yorkshire Terrier L-2-hydroxyglutaricacidemia L2HGDH regulatory Naturally occurring variant yes 8 c.1A>G p.(Met1?) 2012 22843824
OMIA 001371-9615 dog Staffordshire Bull Terrier L-2-hydroxyglutaricacidemia L2HGDH complex rearrangement Naturally occurring variant yes 8 c.[1297T>C; 1299C>T] p.(L433_H434delinsPY)] "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 002459-9615 dog Italian Greyhound CMD LAMA2 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 1 g.67883271G>A c.3285G>A p.(W1095*) XM_022419950.1; XP_022275658.1 2021 34828429
OMIA 001677-9615 dog German Pointer Epidermolysis bullosa, junctionalis, LAMA3 LAMA3 insertion, gross (>20) Naturally occurring variant yes 7 "insertion (4818+207ins6.5 kb) of repetitive satellite DNA within intron 35 of the gene (LAMA3)" 2005 15737193
OMIA 001677-9615 dog Australian Cattle Dog X Epidermolysis bullosa, junctionalis, LAMA3 LAMA3 missense Naturally occurring variant yes CanFam3.1 7 g.64427161T>A c.8615T>A p.(D2867V) cDNA and protein positions based on XM_537297.6 and XP_537297.2, respectively 2021 34250689
OMIA 002269-9615 dog Australian Shepherd Epidermolysis bullosa, junctionalis, LAMB3-related LAMB3 JEB missense Naturally occurring variant yes CanFam3.1 7 g.8286613A>G c.1174T>C p.(C392R) NC_006589.3:g.8286613A>G; XM_014115071.2:c.1174T>C; XP_013970546.1:p.Cys392Arg 2020 32906717
OMIA 002251-9615 dog Airedale Terrier Surfactant metabolism dysfunction, pulmonary LAMP3 missense Naturally occurring variant yes CanFam3.1 34 g.16092728C>T c.1159G>A p.(E387K) 2020 32150563
OMIA 002460-9615 dog Labrador Retriever muscular dystrophy-dystroglycanopathy LARGE nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 10 g.30357716C>T c.1363C>T p.(R455*) 2021 34654610
OMIA 002031-9615 dog Lundehund Lundehund syndrome LEPREL1 missense Naturally occurring variant yes 34 g.139212C>G 2016 27485430
OMIA 001596-9615 dog Lagotto Romagnolo Epilepsy, benign familial juvenile LGI2 nonsense (stop-gain) Naturally occurring variant yes 3 c.1552A>T p.(K518*) 2011 21829378
OMIA 002314-9615 dog Czechoslovakian wolfdog German Shepherd Dog Saarloo Tibetan Terrier Pituitary dwarfism LHX3 splicing Naturally occurring variant yes 9 "a deletion of one of six 7 bp repeats in intron 5 of LHX3" 2011 22132174
OMIA 002314-9615 dog German Shepherd Dog Pituitary dwarfism LHX3 insertion, small (<=20) Naturally occurring variant yes 9 c.545_547dupACA p.(N182dup) NM_001197187; c.545_547dupACA; p.N182dup 2011 22132174
OMIA 002071-9615 dog Labrador Retriever Macular corneal dystrophy LOC489707 missense Naturally occurring variant 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 001928-9615 dog Labrador Retriever Myasthenic syndrome, congenital LOC608697 missense Naturally occurring variant yes 23 c.1010T>C p.(I337T) 2014 25166616
OMIA 001928-9615 dog Golden Retriever Myasthenic syndrome, congenital, COLQ-related LOC608697 missense Naturally occurring variant yes CanFam3.1 23 g.27175559G>A c.880G>A p.(G294R) 2020 31769119
OMIA 002336-9615 dog Rottweiler Nonsyndromic hearing loss LOXHD1 missense Naturally occurring variant yes CanFam3.1 7 g.44806821G>C c.5747G>C p.(G1914A) XM_022421426.1, c.5747G>C; J9PAE4, p.(G1914A) (Hytönen et al., 2021) 2021 33983508
OMIA 001486-9615 dog Beagle Night blindness, congenital stationary, LRIT3-related LRIT3 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 32 g.30038863del c.763delG p.(K245Nfs*5) 2019 31578364
OMIA 000626-9615 dog Mixed breed Beta mannosidosis MANBA duplication Naturally occurring variant yes CanFam3.1 32 c.2377_2381dupTATCA 2019 31439511
OMIA 000626-9615 dog German Shepherd Dog Beta mannosidosis MANBA missense Naturally occurring variant yes CanFam3.1 32 g.24147500A>T c.560T>A p.(I187N) 2019 30983534
OMIA 001432-9615 dog Miniature Long-haired Dachsund Cone-rod dystrophy 4 MAP9 deletion, gross (>20) Naturally occurring variant yes 15 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 001495-9615 dog Afghan Hound Saluki Grizzle MC1R E^G missense Naturally occurring variant no 5 c.233G>T p.(G78V) 2010 20525767
OMIA 001199-9615 dog Alaskan Husky Siberian Husky White coat colour MC1R e^3 deletion, small (<=20) Naturally occurring variant 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) Naturally occurring variant no CanFam3.1 5 g.63694334G>A c.916C>T p.(R306*) rs851563576 2000 10602988 Genomic location provided by Professor Claire Wade
OMIA 001590-9615 dog Leonberger Malinois Black melanistic mask MC1R E^M missense Naturally occurring variant no CanFam3.1 5 g.63694460C>T c.790A>G p.(M264V) rs24201590 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 Naturally occurring variant no CanFam3.1 5 g.63695679C>G 2018 29932470
OMIA 001932-9615 dog Swedish Vallhund Progressive retinal atrophy, MERTK-related MERTK insertion, gross (>20) Naturally occurring variant yes CanFam3.1 17 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.". 200922: g. info has been moved to here (g.36338043-36338057ins) until it can be standardised 2017 28813472 Genomic location provided by Sally Ricketts
OMIA 002153-9615 dog Schnauzer-Beagle cross Neuroaxonal dystrophy MFN2 deletion, small (<=20) Naturally occurring variant yes 2 c.1617_1619delGGA p.(Q539del) 2011 21643798
OMIA 002197-9615 dog White or cream MFSD12 missense Naturally occurring variant no CanFam3.1 20 g.55850145C>T c.151C>T p.(R51C) rs22915955 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) Naturally occurring variant yes 19 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 002465-9615 dog Italian Cane Corso Dental-skeletal-retinal anomaly MIA3 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 38 g.16920529_16920530del c.3822+3_3822+4del p.(V1238_K1274del) g.16920529_16920530delAT; XM_005640835.3 (mRNA) and XP_005640892.1 (protein), leads to skipping of two exons: XM_005640835.3:r.3712_3822del 2021 34680893
OMIA 000214-9615 dog Coat colour, white spotting MITF regulatory Naturally occurring variant 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 002146-9615 dog Bull Terrier Miniature Bull Terrier Lethal acrodermatitis MKLN1 splicing Naturally occurring variant yes CanFam3.1 14 g.5731405T>G c.400+3A>C p.(G105Sfs*10) This variant is "located within the 5’-splice site of intron 4 of the MKLN1 gene" 2018 29565995
OMIA 000031-9615 dog American Staffordshire Terrier Beagle Doberman Pinscher German Pinscher Large Munsterlander Miniature Pinscher Rhodesian Ridgeback Dilute MLPH d^1 splicing Naturally occurring variant 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 Chihuahua Hungarian mudi Hungarian pumi Italian Greyhound Pekingese Shetland Sheepdog Shih-Tzu Tibetan Mastiff Yorkshire Terrier Dilute MLPH d^3 insertion, small (<=20) Naturally occurring variant no CanFam3.1 25 g.48150749_50insC c.667_668insC p.(H223Pfs*41) "(NM_001103219.2: c.667_668insC or chr25: g.48150749_50insC" (van Buren et al. (2020) 2020 32531980
OMIA 000031-9615 dog Chow Chow Sloughi Thai Ridgeback Dilute MLPH d^2 missense Naturally occurring variant yes CanFam3.1 25 g.48150787G>C c.705G>C p.(Q235H) 2018 29349785
OMIA 001819-9615 dog Cavalier King Charles Spaniel English Cocker Spaniel Xanthinuria, type II MOCOS deletion, small (<=20) Naturally occurring variant yes CanFam3.1 7 g.53989863del c.383del p.(A128Gfs*30) c.383delC; transcript ENSCAFT00000028243.4; genomic position based on supplementary table S3 (Tate et al., 2021) 2021 34584846
OMIA 001819-9615 dog Manchester Terrier Xanthinuria, type II MOCOS splicing Naturally occurring variant yes CanFam3.1 7 g.53995018C>A c.232G>T p.(G48_Y77del) “Ensembl VEP determined the consequence of the variant to be a missense, splice region variant … the variant results in the removal of all 90 bp (30 amino acids) of exon 2 (p.Gly48_Tyr77del); the genomic position is based on supplementary table S3 (Tate et al., 2021)”; transcript ENSCAFT00000028243.4 2021 34584846
OMIA 001819-9615 dog Dachshund Xanthinuria, type II MOCOS missense Naturally occurring variant yes CanFam3.1 7 g.54001790A>G c.137T>C p.(L46P) transcript ENSCAFT00000028243.4; genomic position based on supplementary table S3 (Tate et al., 2021) 2021 34584846
OMIA 002028-9615 dog Italian hound Myeloperoxidase deficiency MPO nonsense (stop-gain) Naturally occurring variant yes 9 c.1987C>T p.(R663*) 2016 27296514
OMIA 000683-9615 dog Whippet Muscular hypertrophy (double muscling) MSTN deletion, small (<=20) Naturally occurring variant 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 001561-9615 dog Shar-Pei Periodic Fever Syndrome MTBP missense Naturally occurring variant yes CanFam3.1 13 g.19383758G>A c.2623G>A p.(E875K) rs1152388482 rs1152388482 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 Naturally occurring variant yes X c.1151A>C p.(Q384P) 2015 25664165
OMIA 001508-9615 dog Labrador Retriever Myotubular myopathy 1 MTM1 missense Naturally occurring variant yes X c.465C>A p.(N155K) 2010 20682747
OMIA 001608-9615 dog Pug May-Hegglin anomaly MYH9 missense Naturally occurring variant yes 10 p.(Q1841L) 2011 21554370
OMIA 001501-9615 dog Miniature dachshund Coat colour dilution and neurological defects MYO5A insertion, small (<=20) Naturally occurring variant yes CanFam3.1 30 g.18004551_18004552insT c.4973_4974insA p.(N1658Kfs*28). cDNA and protein positions based on XM_022412522.1 and XP_022268230.1, respectively 2021 34680875
OMIA 002148-9615 dog Doberman Pinscher Deafness, bilateral, and vestibular dysfunction MYO7A missense Naturally occurring variant yes CanFam3.1 21 g.21563111C>T c.3719G>A p.(R1240Q) 2019 31097876
OMIA 001342-9615 dog Schipperke Mucopolysaccharidosis IIIB NAGLU insertion, gross (>20) Naturally occurring variant yes CanFam3.1 9 c.2110_2111ins[A(40_70);2100_2110] "an insertion (XM_548088.6:c.2110_2111ins[A(40_70);2100_2110]) comprised of a homopolymer of A residues (poly-A) and an 11 bp duplication of the sequence directly upstream of the poly-A" (Raj et al. (2020) 2020 32081995
OMIA 001788-9615 dog Great Dane Rottweiler Leukoencephalomyelopathy NAPEPLD insertion, small (<=20) Naturally occurring variant yes CanFam3.1 18 g.16987327_16987328insC c.345_346insC p.(E116Rfs*186) 2018 29643404
OMIA 001788-9615 dog Leonberger Leukoencephalomyelopathy NAPEPLD missense Naturally occurring variant yes CanFam3.1 18 g.16987520G>C c.538G>C p.(A180P) 2018 29643404
OMIA 002348-9615 dog English Cocker Spaniel retinal dysplasia NDP insertion, small (<=20) Naturally occurring variant yes CanFam3.1 X g.37950668_37950668insC c.653_654insC p.(M114Hfs*16) 2021 33945575
OMIA 002120-9615 dog Greyhound Polyneuropathy NDRG1 deletion, small (<=20) Naturally occurring variant yes 13 c.1080_1089del10 2010 20582309
OMIA 002120-9615 dog Alaskan Malamute Polyneuropathy NDRG1 missense Naturally occurring variant yes CanFam3.1 13 g.29714606C>A 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) Naturally occurring variant unknown CanFam3.1 19 g.52734272G>T p.(S8042*) 2016 27215641
OMIA 002198-9615 dog Giant Schnauzer Progressive retinal atrophy, NECAP1-related NECAP1 missense Naturally occurring variant yes CanFam3.1 27 g.37468611G>A c.544G>A p.(G182R) 2019 31117272
OMIA 000218-9615 dog Collie eye anomaly NHEJ1 deletion, gross (>20) Naturally occurring variant yes CanFam3.1 37 g.25698028_25705826del a deletion of 7799bp in the NHEJ1 gene 2007 17916641
OMIA 000690-9615 dog Beagle Chihuahua Miniature Wirehaired Dachshund Newfoundland Pembroke Welsh Corgi Myoclonus epilepsy of Lafora NHLRC1 repeat variation Naturally occurring variant yes 35 19 to 26 copies of a sequence of 12 nucleotides (12-mer; dodecamer) in the canine EPM2B gene (now called NHLRC1) 2005 15637270
OMIA 001980-9615 dog American Bulldog American Bully Ichthyosis, NIPAL4-related NIPAL4 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 4 g.52737379del c.744delC p.(I249*) 2017 28122049
OMIA 000938-9615 dog Weimaraner Spinal dysraphism NKX2-8 delins, small (<=20) Naturally occurring variant yes 8 p.(A150Vfs*2) 2013 23874236
OMIA 002206-9615 dog Alaskan Malamute Ciliary dyskinesia, primary, NME5-related NME5 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 11 g.25792084del c.43delA p.(T15Lfs*56) XM_003639378.4:c.43delA; XP_003639426.1:p.(Thr15LeufsTer56) 2019 31479451
OMIA 001455-9615 dog Miniature Wirehaired Dachshund Standard wire-haired dachshund Cone-rod dystrophy, Standard Wire-haired Dachshund NPHP4 deletion, gross (>20) Naturally occurring variant yes 5 "a 180-bp deletion in exon/intron 5 of NPHP4 (nephronophthisis 4, also known as nephroretinin)" 2008 18687878
OMIA 002254-9615 dog Mixed breed Glucocorticoid resistance NR3C1 insertion, gross (>20) Naturally occurring variant yes 2 c.2032_2033ins69 An insertion of "69 nucleotides between nucleotides 2032 and 2033 compared with dog wild type GR [i.e. NR3C1]. These extra 69 nucleotides matched a part of the nucleotide sequence of dog genomic DNA corresponding to intron 6 . . . . Insertion of these extra 69 nucleotides between exons 6 and 7 introduced a frameshift and a premature termination codon (TGA) 15 bp downstream of the insertion. This insertion is thus predicted to result in a truncated protein of 682 amino acids, compared to the normal (wild type) 780 amino acids" (Yamanaka et al., 2019) 2019 31651346
OMIA 002296-9615 dog Yorkshire Terrier XY DSD (Disorder of Sexual Development), NR5A1-related NR5A1 deletion, gross (>20) Naturally occurring variant yes 9 "a large deletion consisting of four exons of the NR5A1 gene" (Nowacka-Woszuk et al., 2020) 2020 33128907
OMIA 002117-9615 dog Labrador Retriever CHILD-like syndrome NSDHL deletion, gross (>20) Naturally occurring variant yes CanFam3.1 X g.120749179_120763577del deletion of 14,399bp 2017 28739597
OMIA 002117-9615 dog Chihuahua verrucous epidermal keratinocytic nevi NSDHL missense Naturally occurring variant yes CanFam3.1 X g.120752468G>A c.700G>A p.(G234R) CanFam3.1 ChrX:120,752,468G>A; XM_014111859.2:c.700G>A; XP_013967334.1: p.Gly234Arg 2019 31571289
OMIA 002117-9615 dog Chihuahua Verrucous epidermal keratinocytic nevi NSDHL deletion, small (<=20) Naturally occurring variant yes CanFam3.1 X g.120752486_120752490del c.718_722delGAACA p.(E240Pfs*17) NC_006621.3: g.120,752,486_120,752,490delGAACA; XM_014111859.2:c.718_722delGAACA; XP_013967334.1:p.(Glu240Profs*17) (Christen et al., 2020) 2020 33143176
OMIA 002130-9615 dog German Spitz Coat colour, oculocutaneous albinism, OCA2-related OCA2 splicing Naturally occurring variant 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 001564-9615 dog Greater Swiss Mountain Bleeding disorder, P2RY12-related P2RY12 deletion, small (<=20) Naturally occurring variant yes 23 "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 001314-9615 dog Cardigan Welsh Corgi Rod-cone dysplasia 3 PDE6A deletion, small (<=20) Naturally occurring variant yes 4 c.1940delA p.(N616fs) "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) Naturally occurring variant yes 3 "an 8-bp insertion after codon 816" of the PDE6B gene 2000 11124530
OMIA 000882-9615 dog Irish Setter Rod-cone dysplasia 1 PDE6B nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 3 g.91747713C>T c.2421G>A p.(W807*) 1993 8387203 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001674-9615 dog American Staffordshire Terrier Cone-rod dystrophy 1 PDE6B deletion, small (<=20) Naturally occurring variant yes CanFam3.1 3 g.91747728_91747730del c.2404_2406del p.(802del) 2013 24045995
OMIA 002282-9615 dog Spanish water dog PRA, PDE6B-related PDE6B deletion, small (<=20) Naturally occurring variant yes CanFam3.1 3 g.91749865_91749870del c.2218-2223del p.(F740_F741del) "CanFam3.1; chr3:91,749,865-91,749,870; GCA_000002285.2:c.2218-2223del; p.Phe740_Phe741del" Winkler et al. (2020) 2020 32639685
OMIA 001406-9615 dog Clumber Spaniel Sussex Spaniel Pyruvate dehydrogenase deficiency PDP1 nonsense (stop-gain) Naturally occurring variant yes 29 c.754C>T p.(Q252*) 2007 17095275
OMIA 000421-9615 dog American Cocker Spaniel English Springer Spaniel Whippet Glycogen storage disease VII PFKM nonsense (stop-gain) Naturally occurring variant yes 27 c.2228G>A p.(W???*) 1996 8702726
OMIA 000421-9615 dog Wachtelhund Glycogen storage disease VII PFKM missense Naturally occurring variant yes 27 c.550C>T p.(R184W) 2012 22446493
OMIA 002084-9615 dog Soft Coated Wheaten Terrier Dyskinesia, paroxysmal, PIGN PIGN missense Naturally occurring variant 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 002324-9615 dog Parson Russell Terrier epilepsy, mitochondrial dysfunction and neurodegeneration PITRM1 deletion, small (<=20) Naturally occurring variant unknown CanFam3.1 2 g.32188565_32188570del c.175_180del p.(L59_S60del) ENSCAFT00000008673 c.175_180del 2021 33835239
OMIA 000807-9615 dog Bull Terrier Polycystic kidney disease PKD1 missense Naturally occurring variant yes CanFam3.1 6 g.38856816G>A c.9559G>A p.(E3187K) rs397509460 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) Naturally occurring variant yes 7 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) Naturally occurring variant unknown 7 a 6 base pair insertion in exon 10 1999 10490091
OMIA 000844-9615 dog Pug Pyruvate kinase deficiency of erythrocyte PKLR missense Naturally occurring variant yes 7 c.848T>C p.(V283A) 2012 22805166
OMIA 000844-9615 dog Beagle Pyruvate kinase deficiency of erythrocyte PKLR missense Naturally occurring variant yes 7 c.994G>A p.(G332S) 2012 22805166
OMIA 000844-9615 dog Labrador Retriever Pyruvate kinase deficiency of erythrocyte PKLR nonsense (stop-gain) Naturally occurring variant yes 7 g.42268632C>T 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 Naturally occurring variant yes CanFam3.1 7 g.1966531C>G 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 Naturally occurring variant 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 002080-9615 dog Eurasier Epidermolysis bullosa, simplex, PLEC PLEC nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 13 g.37461941C>T c.3947G>A p.(W1316*) CanFam3 chr13: g.37461941G>A; XM_539204.6:c.3947G>A; XP_539204.2:p.Trp1316Stop: 2016 27878870 Updated variant coordinates kindly provided by Tosso Leeb on 8 May 2020
OMIA 002020-9615 dog Scottish Terrier Ligneous membranitis PLG splicing Naturally occurring variant yes 1 c.1256+2T>A 2015 26360520
OMIA 002020-9615 dog Maltese Ligneous membranitis PLG deletion, gross (>20) Naturally occurring variant yes CanFam3.1 1 g.49534880_49540865del a deletion of 5986 bp involving exon 1 and the flanking region 2021 34370320
OMIA 002195-9615 dog Welsh springer spaniel Cardiomyopathy, dilated, PLN-related PLN missense Naturally occurring variant yes 1 g.58588129G>A c.26G>A p.(R9H) 2019 30794913 c. coordinate kindly provided by Tosso Leeb
OMIA 000770-9615 dog Springer Spaniel Tremor, X-linked PLP1 missense Naturally occurring variant 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 000211-9615 dog Numerous breeds Classic Merle PMEL M insertion, gross (>20) Naturally occurring variant yes 10 "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." Allele M (265-269bp); phenotype = Classic Merle = "standard" of Murphy et al. (2018) 2006 16407134
OMIA 000211-9615 dog Numerous breeds No Merle pattern - solid coat PMEL Mc insertion, gross (>20) Naturally occurring variant no 10 Mc (208-230bp); phenotype = No Merle pattern – solid coat; = "cryptic" of Murphy et al. (2018) 2018 30235206
OMIA 000211-9615 dog Numerous breeds No Merle pattern - solid coat PMEL Mc+ insertion, gross (>20) Naturally occurring variant no 10 Mc+ (231-245bp); phenotype = No Merle pattern – solid coat; = "cryptic" of Murphy et al. (2018) 2018 30235206
OMIA 000211-9615 dog Numerous breeds No Merle pattern - diluted - brownish hue PMEL Ma insertion, gross (>20) Naturally occurring variant no 10 Ma (247-254bp); phenotype = No Merle pattern – diluted–brownish hue; = "cryptic" of Murphy et al. (2018) 2018 30235206
OMIA 000211-9615 dog Numerous breeds Muted, undefined, diluted - brownish hue PMEL Ma+ insertion, gross (>20) Naturally occurring variant no 10 Ma+ (255-264bp); phenotype = Muted, undefined, diluted–brownish hue = "dilute" of Murphy et al. (2018) 2018 30235206
OMIA 000211-9615 dog Numerous breeds Minimal Merle, areas deleted to white, tweed PMEL Mh insertion, gross (>20) Naturally occurring variant yes 10 Mh (269-277bp); phenotype = Minimal Merle, areas deleted to white, tweed = "harlequin" of Murphy et al. (2018) 2018 30235206
OMIA 001588-9615 dog Golden Retriever Ichthyosis, PNPLA1-related PNPLA1 delins, small (<=20) Naturally occurring variant yes 12 c.1445_1447delinsTACTACTA p.(N482Ifs*11) 2012 22246504
OMIA 001258-9615 dog Labrador Retriever Obesity POMC deletion, small (<=20) Naturally occurring variant yes CanFam3.1 17 g.19431807_19431821del p.(E188fs) 2016 27157046
OMIA 002315-9615 dog Karelian bear dog Pituitary dwarfism POU1F1 splicing Naturally occurring variant yes CanFam3.1 31 g.784534C>A c.605-3C>A Kyöstilä et al. (2021) "the NNSPLICE 0.9 splice prediction tool (Reese et al. 1997) predicted this variant to weaken the splice acceptor of POU1F1 intron 4 from a score of 0.97 to 0.67." 2021 33550451
OMIA 001504-9615 dog Dachshund Neuronal ceroid lipofuscinosis, 1 PPT1 insertion, small (<=20) Naturally occurring variant yes 15 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 001504-9615 dog Italian Cane Corso Neuronal ceroid lipofuscinosis, 1 PPT1 splicing Naturally occurring variant yes CanFam3.1 15 g.2860424G>A c.124+1G>A 2017 28008682
OMIA 001311-9615 dog Miniature Schnauzer Photoreceptor dysplasia PPT1 PPT1^dci complex rearrangement Naturally occurring variant yes CanFam3.1 15 g.2874661_2875048con2877563_2877607inv 2019 30541930
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 Naturally occurring variant yes CanFam3.1 9 g.4188663C>T c.5G>A p.(C2Y) rs852451717 2006 16938425 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) Naturally occurring variant yes 29 c.10879G>T p.(E3627*) 2002 11867233
OMIA 001485-9615 dog Dogo Argentino Dwarfism, disproportionate PRKG2 splicing Naturally occurring variant yes CanFam3.1 32 g.5299068C>A c.1634+1G>T cDNA position based on XM_022413533.1 2021 34680883
OMIA 001454-9615 dog Great Dane Harlequin PSMB7 missense Naturally occurring variant no 9 c.146T>G p.(V6G) 2011 21256207
OMIA 001515-9615 dog Great Dane Colorectal hamartomatous polyposis and ganglioneuromatosis PTEN insertion, gross (>20) Naturally occurring variant yes 26 "Duplication of PTEN" 2011 20952721
OMIA 002196-9615 dog Doberman Pinscher Deafness, unilateral and vestibular dysfunction PTPRQ insertion, small (<=20) Naturally occurring variant yes CanFam3.1 15 g.22989894insA p.(N2032Kfs*24) 2018 29460419
OMIA 001913-9615 dog Gordon Setter Old English Sheepdog Ataxia, cerebellar, in Old English Sheepdogs and Gordon Setters RAB24 missense Naturally occurring variant 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) Naturally occurring variant yes 19 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 Rottweiler Polyneuropathy, ocular abnormalities and neuronal vacuolation RAB3GAP1 deletion, small (<=20) Naturally occurring variant yes 19 c.743delC 2016 26607784
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) Naturally occurring variant yes CanFam3.1 18 g.31631772C>A c.2893G>T p.(E965*) 2011 21293384 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002222-9615 dog Miniature Bull Terrier Laryngeal paralysis, RAPGEF6-related RAPGEF6 insertion, gross (>20) Naturally occurring variant yes CanFam3.1 11 g.19841331ins36 c.1793_1794ins36 p.(I587Pfs*5) Hadji Rasouliha et al. (2019): XM_846793.5:c.1793_1794insTTTTTTTTTTTTTTTTTTTTTAGCCCTTGAAATTTT; XP_851886.2:p.(Ile578ProfsTer5) 2019 31647804
OMIA 001003-9615 dog Eskimo Spitz Thrombopathia RASGRP1 insertion, small (<=20) Naturally occurring variant yes 30 c.452-453insA 2007 17656327
OMIA 001003-9615 dog Landseer Thrombopathia RASGRP1 nonsense (stop-gain) Naturally occurring variant yes 30 c.982C>T p.(R328*) 2007 17656327
OMIA 001003-9615 dog Basset Hound Thrombopathia RASGRP1 deletion, small (<=20) Naturally occurring variant yes 30 g.509510511delTCT 2008 18922051
OMIA 002365-9615 dog Giant Schnauzer Standard Schnauzer Cardiomyopathy, dilated RBM20 deletion, gross (>20) Naturally occurring variant unknown 28 22 bp deletion and frame shift in exon 11 of RBM20 2014 Reference not in PubMed; see OMIA 002365-9615 for reference details
OMIA 002151-9615 dog Irish soft-coated wheaten terrier Microphthalmia, isolated, with coloboma RBP4 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 28 c.282_284del p.(K30del) 2018 29847795
OMIA 001260-9615 dog Collie Rod-cone dysplasia 2 RD3 insertion, gross (>20) Naturally occurring variant yes 7 "22 bp insertion changes the last 61 amino acids of the encoded protein" 2009 19130129
OMIA 001346-9615 dog English Mastiff Autosomal dominant PRA RHO missense Naturally occurring variant yes CanFam3.1 20 g.5637394G>C c.11C>G p.(T4R) 2002 11972042 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001222-9615 dog Briard Leber congenital amaurosis (congenital stationary night blindness) RPE65 deletion, small (<=20) Naturally occurring variant yes 6 4bp deletion in RPE65 1998 9808841
OMIA 000831-9615 dog Weimaraner Progressive retinal atrophy, X-linked, type 1 RPGR deletion, gross (>20) Naturally occurring variant yes X "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) Naturally occurring variant yes X c.1028_1032delGAGAA a "five-nucleotide deletion (delGAGAA) between 1028 and 1032" in the canine RPGR gene 2002 11978759
OMIA 001518-9615 dog Mongrel Progressive retinal atrophy, X-linked, type 2 RPGR deletion, small (<=20) Naturally occurring variant yes X c.1084-1085delGA "a two-nucleotide deletion (delGA) in 1084-1085" in the canine RPGR gene 2002 11978759
OMIA 001432-9615 dog Miniature Long-haired Dachsund Cone-rod dystrophy 4 RPGRIP1 insertion, gross (>20) Naturally occurring variant yes 15 a 44-bp insertion in exon 2 of the RPGRIP1 gene 2006 16806805
OMIA 001531-9615 dog Furnishings (moustache and eyebrows) RSPO2 insertion, gross (>20) Naturally occurring variant no 13 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) Naturally occurring variant yes 13 "167 bp 3' UTR insertion in RSPO2" 2010 20562213
OMIA 000621-9615 dog Collie Doberman Pinscher German Shepherd Dog Labrador Retriever Malignant hyperthermia RYR1 missense Naturally occurring variant yes 1 c.1640T>C p.(V547A) "The nucleotide sequences of canine regions I and II have been submitted to GenBank (accession No. A302128 and AF302129, respectively)" (Roberts et al., 2001) 2001 11575546
OMIA 001876-9615 dog Basenji Progressive retinal atrophy, Basenji SAG extension (stop-lost) Naturally occurring variant 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 002284-9615 dog Miniature Schnauzer Polyneuropathy, SBF2-related SBF2 splicing Naturally occurring variant yes CanFam3.1 21 g.33080022C>A c.2363+1G>T p.(G775Vfs*5) 2019 31772832
OMIA 002016-9615 dog Wirehaired Fox Terrier Van den Ende-Gupta syndrome SCARF2 deletion, small (<=20) Naturally occurring variant yes 26 c.865_866delTC p.(S289Gfs*15) 2016 27187611
OMIA 002194-9615 dog Alpine Dachsbracke Ataxia, spinocerebellar, SCN8A-related SCN8A missense Naturally occurring variant yes CanFam3.1 27 g.3179029C>A c.4898G>T p.(G1633V) 2019 31083464
OMIA 001692-9615 dog Finnish Hound Ataxia, cerebellar, progressive early-onset SEL1L missense Naturally occurring variant yes CanFam3.1 8 g.53778458A>G c.1972T>C p.(S658P) 2012 22719266 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002367-9615 dog Belgian Shepherd CNS atrophy with cerebellar ataxia SEPP1 deletion, gross (>20) Naturally occurring variant unknown CanFam3.1 4 g.66946539_66963863del 17325bp deletion includes the entire protein coding sequence of SELENOP (also called SEPP1) 2021 34339417
OMIA 001483-9615 dog Dachshund Osteogenesis imperfecta_Dachshund SERPINH1 missense Naturally occurring variant yes CanFam3.1 21 g.23033735A>G c.977T>C p.(L326P) 2009 19629171 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002305-9615 dog Miniature dachshund Muscular dystrophy, limb-girdle, type R3 SGCA nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 9 g.26166312G>A c.G224A p.(W75*) 2021 33407862
OMIA 002122-9615 dog Boston Terrier Muscular dystrophy, limb-girdle, type 2F SGCD deletion, small (<=20) Naturally occurring variant yes CanFam3.1 4 c.534_535delGA 2017 28702169
OMIA 002122-9615 dog Boston Terrier Muscular dystrophy, limb-girdle, type 2F SGCD delins, gross (>20) Naturally occurring variant yes CanFam3.1 4 g.[53262018_53262020delinsCC;53262030_53281432del] g.[53262018_53262020delinsCC;53262030_53281432del] 2017 28702169
OMIA 001279-9615 dog Scottish Deerhound Hypotrichosis, recessive SGK3 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 29 c.137_138insT p.(E47Gfs*3) Hytönen and Lohi (2019) Supplementary material 3: ENSCAFT00000011773.3:c.137_138insT; p.Q47fs 200922: g. info moved to here (g.16,351,976) until it can be standardised 2019 30927068
OMIA 001279-9615 dog American Hairless Hypotrichosis, recessive SGK3 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 29 g.16366702_16366705del c.287_290delTTAG p.(V96Gfs*50) 2017 27994129
OMIA 001309-9615 dog New Zealand Huntaway Dog Mucopolysaccharidosis IIIA SGSH insertion, small (<=20) Naturally occurring variant yes 9 c.708-709insC 2002 11829484
OMIA 001309-9615 dog Dachshund Mucopolysaccharidosis IIIA SGSH deletion, small (<=20) Naturally occurring variant yes 9 c.737-739delCCA 2000 10950929
OMIA 002208-9615 dog Golden Retriever Eye malformation, congenital SIX6 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 8 g.35566504C>T c.487C>T p.(Q163*) XM_547840.6:c.487C>T; XP_547840.3:p.(Gln163*) 2019 31207931
OMIA 002279-9615 dog Malinois Ataxia, spinocerebellar, SLC12A6-related SLC12A6 delins, small (<=20) Naturally occurring variant yes CanFam3.1 30 c.178_181delinsCATCTCACTCAT p.(M60Hfs*14) "The INDEL involves a 12-bp insertion (CATCTCACTCAT) and a 4-bp deletion (ATGA), most probably generated by a template-switch process with an inverted repeat and an inverted spacer (Fig. 2). The variant is located in exon 1a and causes a frameshift at codon 60, leading to a premature stopcodon 14 codons downstream in all transcripts containing exon 1a (Fig. 2). The SLC12A6 NC_006612.3(XM_014109414.2): c.178_181delinsCATCTCACTCAT (p.(Met60Hisfs*14)) variant was deposited in the EVA database (URL: https://www.ebi.ac.uk/eva/; Project: PRJEB30850; Analyses: ERZ802317)" (Van Poucke et al., 2019) 2019 31160700
OMIA 001400-9615 dog Miniature Poodle Osteochondrodysplasia SLC13A1 deletion, gross (>20) Naturally occurring variant yes 14 a 130kb deletion which "ablated all but the first exon of SLC13A1" 2012 23300579
OMIA 001097-9615 dog Alaskan Husky Necrotising encephalopathy, subacute, of Leigh SLC19A3 insertion, small (<=20) Naturally occurring variant yes 25 c.624 insTTGC 2013 23469184
OMIA 001097-9615 dog Yorkshire Terrier Juvenile-onset necrotizing encephalopathy SLC19A3 delins, gross (>20) Naturally occurring variant yes CanFam3.1 25 g.40417857_40417862delins35 c.205_210delins35 p.(P69Ifs*45) "a 35 bp insertion replacing 6 bp and thereby disturbing the correct reading frame"; XM_022409850.1:c.205_210delins35; XP_022265558.1:p.Pro69Ilefs*45 (Drögemüller et al., 2020) 2020 33081289
OMIA 002294-9615 dog Dutch Shepherd dog Inflammatory myopathy, SLC25A12-related SLC25A12 missense Naturally occurring variant yes CanFam3.1 36 g.16219219A>G c.1046T>C p.(L349P) chr36:g.16,219,219A>G; c.1046T>C; p.L349P (Shelton et al., 2019) 2019 31594244
OMIA 001973-9615 dog Great Dane Ichthyosis, SLC27A4-related SLC27A4 splicing Naturally occurring variant yes CanFam3.1 9 c.1250G>A 2015 26506231
OMIA 001033-9615 dog Dalmatian Urolithiasis SLC2A9 missense Naturally occurring variant yes CanFam3.1 3 g.69456869G>T c.563G>T p.(C188F) rs1152388406 rs1152388406 2008 18989453 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002244-9615 dog Basset Hound Craniomandibular osteopathy SLC37A2 splicing Naturally occurring variant yes CanFam3.1 5 g.9387071C>T c.1446+1G>A NC_006587.3:g.9387071C>T; XM_005619600.3:c.1446+1G>A (Letko et al., 2020) 2020 32033218
OMIA 002244-9615 dog Cairn Terrier Scottish Terrier West Highland White Terrier Craniomandibular osteopathy SLC37A2 splicing Naturally occurring variant yes CanFam3.1 5 g.9387327G>A c.1332C>T XM_005619600.3:c.1332C>T (Letko et al., 2020) 2016 27187611 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001879-9615 dog Australian Cattle Dog Cystinuria, type II - A SLC3A1 deletion, small (<=20) Naturally occurring variant yes 10 c.1095_1100del p.(T366_T367del) 2013 24001348
OMIA 000256-9615 dog Labrador Cystinuria, type I - A SLC3A1 deletion, small (<=20) Naturally occurring variant yes 10 c.350delG p.(G117Afs*41) 2013 24001348
OMIA 000256-9615 dog Newfoundland Cystinuria, type I -A SLC3A1 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 10 g.46706001C>T c.586C>T p.(R196*) 2000 11129328 Genomic coordinates obtained from EBI's Variant Effect Predictor
OMIA 001821-9615 dog Doberman Pinscher Coat colour, albinism, oculocutaneous type IV SLC45A2 deletion, gross (>20) Naturally occurring variant yes 4 "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 001821-9615 dog Lhasa Apso Mixed breed Pekingese Pomeranian Coat colour, albinism, oculocutaneous type IV SLC45A2 missense Naturally occurring variant yes 4 c.1478G>A p.(G493D) 2015 25790827
OMIA 001821-9615 dog Bull Mastiff Coat colour, albinism, oculocutaneous type IV SLC45A2 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 4 g.73864860delC c.1287delC p.(M430Cfs*4) 2017 28737247
OMIA 001572-9615 dog Golden Retriever Golden Retriever PRA 1 SLC4A3 insertion, small (<=20) Naturally occurring variant yes 37 c.2601_2602insC 200922: g. info moved here (g.29147633) until it can be standardised 2011 21738669
OMIA 002174-9615 dog Shih-Tzu Congenital dyshormonogenic hypothyroidism with goiter SLC5A5 splicing Naturally occurring variant unknown CanFam3.1 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) Naturally occurring variant yes 21 "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) Naturally occurring variant yes CanFam3.1 21 p.(S460Ffs*47) 2019 30847549
OMIA 001880-9615 dog Miniature Pinscher Cystinuria, type II - B SLC7A9 missense Naturally occurring variant yes 1 c.964G>A p.(G322R) 2013 24001348
OMIA 001551-9615 dog Brachycephaly SMOC2 insertion, gross (>20) Naturally occurring variant yes 1 "a long interspersed nuclear element (LINE-1) within the SPARC-related modular calcium binding (SMOC2) gene" 2017 28552356
OMIA 002034-9615 dog Vizsla Cerebellar cortical degeneration, Hungarian Vizsla SNX14 splicing Naturally occurring variant yes CanFam3.1 12 g.45530566C>T c.2653+1G > A 2016 27566131
OMIA 000263-9615 dog Bernese Mountain dog Degenerative myelopathy SOD1 missense Naturally occurring variant yes 31 c.52A>T p.(T18S) 2011 21628865
OMIA 000263-9615 dog Belgian Shepherd Boxer Chesapeake Bay Retriever German Shepherd Dog Hovawart Pembroke Welsh Corgi Rhodesian Ridgeback Degenerative myelopathy SOD1 missense Naturally occurring variant yes CanFam2.0 31 c.118G>A p.(E40K) 2009 19188595
OMIA 002322-9615 dog Markiesje paroxysmal dyskinesia, juvenile SOD1 delins, small (<=20) Naturally occurring variant yes CanFam3.1 31 c.12delinsCAC p.(K4Dfs*6) Mandigers et al. (2021): A G-nucleotide of the fourth codon of the gene is replaced by a CAC-trinucleotide. The shifted coding sequence runs into a stop codon at the tenth codon. The annotation of the indel mutation is NM001003035.1:c.12delinsCAC. The protein annotation is NP_001003035.1:p.Lys4Aspfs*6. The genomic annotation cannot be given because exon 1 of SOD1 is not represented in the reference genome CanFam3.1." 2021 33677640
OMIA 001403-9615 dog Miniature Schnauzer Pancreatitis, hereditary SPINK1 complex rearrangement Naturally occurring variant yes 2 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 Naturally occurring variant yes 8 p.(T2110M) 2009 19228356
OMIA 002092-9615 dog Beagle Ataxia, spinocerebellar, SPTBN2-related SPTBN2 deletion, small (<=20) Naturally occurring variant yes 18 p.(G1952insRDRGQGRPLLLMHRHGAGAA) 2012 22781464
OMIA 001297-9615 dog Norwegian Elkhound Early retinal degeneration STK38L insertion, gross (>20) Naturally occurring variant yes 27 "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) Naturally occurring variant yes CanFam3.1 17 g.29270913_29270920del 8bp deletion 2010 20596727
OMIA 001373-9615 dog Greyhound Nasal parakeratosis SUV39H2 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 2 g.21731812_21731815del c.996+3_996+6delAAGT 2018 29423952
OMIA 001373-9615 dog Labrador Retriever Nasal parakeratosis SUV39H2 missense Naturally occurring variant yes CanFam3.1 2 g.21731842A>C c.972T>G p.(N324K) rs851549203 rs851549203 2013 24098150
OMIA 000975-9615 dog Pembroke Welsh Corgi Bob tail T missense Naturally occurring variant yes CanFam3.1 1 g.54192143G>C c.189C>G p.(I63M) rs1152388402 2001 11252170 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001975-9615 dog Spanish water dog Neuroaxonal dystrophy, juvenile TECPR2 missense Naturally occurring variant 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 000546-9615 dog Jack Russell Terrier Ichthyosis TGM1 insertion, gross (>20) Naturally occurring variant yes 8 a LINE-1 insertion in the TGM1 gene 2009 19438474
OMIA 002203-9615 dog Chihuahua Poodle Ehlers-Danlos syndrome, classic-like, 1 TNXB missense Naturally occurring variant yes CanFam3.1 12 g.1490385C>T c.2900G>A p.(G967D) XM_003431680.3:c.2900G>A, p.(Gly967Asp) rs852664268 rs852664268 2019 31365140
OMIA 002203-9615 dog Mixed breed Ehlers-Danlos syndrome, classic-like, 1 TNXB missense Naturally occurring variant yes CanFam3.1 12 g.1499124C>T c.2012G>A p.(S671N) XM_003431680.3: c.2012G>A, p.(Ser671Asn) 2019 31365140
OMIA 000536-9615 dog Spanish water dog Hypothyroidism TPO regulatory Naturally occurring variant yes 17 an insertion of an 8-nt poly-G tract that necessitates an alternative translation initiation site 2013 23223904
OMIA 000536-9615 dog Tenterfield Terrier Hypothyroidism TPO missense Naturally occurring variant yes 17 c.1777C>T p.(R593W) 2012 23113744
OMIA 000536-9615 dog Rat Terrier Toy Fox Terrier Hypothyroidism TPO nonsense (stop-gain) Naturally occurring variant 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 000536-9615 dog French Bulldog Hypothyroidism TPO splicing Naturally occurring variant yes CanFam3.1 17 g.801598T>C c.2242 + 2T>C 2015 26478542
OMIA 001472-9615 dog Dachshund Neuronal ceroid lipofuscinosis, 2 TPP1 deletion, small (<=20) Naturally occurring variant yes 21 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) Naturally occurring variant yes MT 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 002215-9615 dog Standard Schnauzer Leukodystrophy, TSEN54-related TSEN54 missense Naturally occurring variant yes CanFam3.1 9 g.5015506C>T c.371G>A p.(G124D) Störk et al. (2019): XM_540434.6:c.371G>A; XP_540434.3:p.(Gly124Asp) 2019 31584937
OMIA 001984-9615 dog Golden Retriever Golden Retriever PRA 2 TTC8 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 8 g.60090186del c.669delA p.(K223Rfs*15) 2014 26401321
OMIA 002434-9615 dog Cairn Terrier Norfolk Terrier Thrombocytopaenia TUBB1 missense Naturally occurring variant yes 24 c.5G>A p.(R2H) 2014 25060661
OMIA 002434-9615 dog King Charles Spaniel Thrombocytopaenia TUBB1 missense Naturally occurring variant yes 24 c.745G>A p.(D249N) 2008 18466252
OMIA 000202-9615 dog Dachshund Himalayan TYR missense Naturally occurring variant no 21 c.230G>A p.(R77Q) 2020 33039541
OMIA 001249-9615 dog Numerous breeds Brown TYRP1 b^c missense Naturally occurring variant no CanFam3.1 11 g.33317810T>A c.121T>A p.(C41S) rs851939320 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. Correction to g and c. details provided by Professor Tosso Leeb 11 Feb 2020.
OMIA 001249-9615 dog Siberian Husky Brown TYRP1 b^h missense Naturally occurring variant no CanFam3.1 11 g.33317814G>A c.125G>A p.(C42Y) NM_001194966.1, c.125G>A, p.Cys42Tyr (Van Buren et al., 2021) 2021 33421162
OMIA 001249-9615 dog Australian Shepherd Brown TYRP1 nonsense (stop-gain) Naturally occurring variant no CanFam3.1 11 g.33319349T>G c.555T>G p.(Y185*) rs1152388483 2017 28497851
OMIA 001249-9615 dog Numerous breeds Brown TYRP1 b^s nonsense (stop-gain) Naturally occurring variant no CanFam3.1 11 g.33326685C>T c.991C>T p.(Gln331*) rs850566878 rs850566878 2002 12140685 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001249-9615 dog Lancashire heeler Liver TYRP1 b^e missense Naturally occurring variant no CanFam3.1 11 g.33326719T>G c.1025T>G p.(F342C) 2019 31468558
OMIA 001249-9615 dog Numerous breeds Brown TYRP1 b^d deletion, small (<=20) Naturally occurring variant no CanFam3.1 11 g.33326727_33326729del c.1033_1035del p.(P345del) rs851422848 rs851422848 2002 12140685
OMIA 001609-9615 dog German Shorthaired Pointer Vizsla Exfoliative cutaneous lupus erythematosus UNC93B1 missense Naturally occurring variant yes CanFam3.1 18 g.49834825C>A c.1438C>A p.(P480T) XM_540813.6:c.1438C>A; XP_540813.3:p.(Pro480Thr) (Leeb et al., 2020) 2020 32028618
OMIA 001216-9615 dog Australian Cattle Dog Dalmatian English Cocker Spaniel German Shorthaired Pointer Wirehaired Griffon roan USH2A T^R duplication Naturally occurring variant no CanFam3.1 38 Brancalion et al. (2021) "identified a duplicated DNA segment (11 398 bp) lying within the 67th intron of USH2A and spanning CFA38:11131841–11143239 (canfam3.1)". Kawakami et al. (2021) identified the same duplication: "an 11-kb tandem duplication (11,131,835–11,143,237)" 2021 33539602 33755696
OMIA 001431-9615 dog Pomeranian Vitamin D-deficiency rickets, type II VDR splicing Naturally occurring variant yes 27 "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) Naturally occurring variant yes 1 c.1713delC p.(W572Gfs*10) 2015 25668033
OMIA 002152-9615 dog Rottweiler Neuroaxonal dystrophy, VPS11-related VPS11 missense Naturally occurring variant yes CanFam3.1 5 g.14777774T>C c.2504A>G p.(H835R) rs852867622 rs852867622 2018 29945969
OMIA 001428-9615 dog Border Collie Trapped Neutrophil Syndrome VPS13B deletion, small (<=20) Naturally occurring variant yes 13 g.4411950_4411953del deletion of GTTT 2011 21605373
OMIA 001058-9615 dog Dutch Kooiker Von Willebrand disease III VWF splicing Naturally occurring variant yes 27 "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) Naturally occurring variant yes 27 "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) Naturally occurring variant yes 27 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 001339-9615 dog Chinese Crested Dog German Shorthaired Pointer German Wirehaired Pointer Von Willebrand disease II VWF missense Naturally occurring variant yes CanFam3.1 27 g.38887211T>G c.1657T>G p.(W553G) 2017 28696025 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 001339-9615 dog German Shorthaired Pointer German Wirehaired Pointer Von Willebrand disease II VWF missense Naturally occurring variant yes CanFam3.1 27 g.38924099A>G c.4937A>G p.(N1646S) rs852456570 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 Naturally occurring variant yes CanFam3.1 27 g.38951839G>A c.7437G>A p.(S2479S) 2013 23911791 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002445-9615 dog Mixed breed Xanthinuria, type I XDH splicing Naturally occurring variant unknown CanFam3.1 17 g.24941551C>T c.654G>A p.(R189_L218del) Transcript ENSCAFT00000047701.2; Ensembl VEP reported variant as synonymous, splice region variant, cDNA sequencing revealed removal of all 93 bp of exon 8 (p.Arg189_Leu218del) . Genomic position based on supplementary table S3. (Tate et al., 2021) 2021 34584846
OMIA 002256-9615 dog Belgian Shepherd Cardiomyopathy and juvenile mortality YARS2 missense Naturally occurring variant yes CanFam3.1 27 g.16157324G>A c.1054G>A p.(E352K) "XM_543740.6:c.1054G>A . . . XP_543740.1:p.(Glu352Lys)" (Gurtner et al. (2020) 2020 32183361
Overall Statistics
Total number of variants 463
Variants with genomic location 273 (59.0% )
Variants in a variant database, i.e. with rs ID 26 (5.6%)
Variant Type Count Percent
complex rearrangement 7 1.5%
deletion, gross (>20) 31 6.7%
deletion, small (<=20) 88 19.0%
delins, gross (>20) 3 0.6%
delins, small (<=20) 8 1.7%
duplication 6 1.3%
extension (stop-lost) 1 0.2%
haplotype 5 1.1%
insertion, gross (>20) 39 8.4%
insertion, small (<=20) 39 8.4%
inversion 4 0.9%
missense 133 28.7%
nonsense (stop-gain) 47 10.2%
reference sequence allele 1 0.2%
regulatory 9 1.9%
repeat variation 3 0.6%
splicing 39 8.4%
Year First Reported Count Percent
1989 1 0.2%
1990 1 0.2%
1991 0 0.0%
1992 2 0.4%
1993 1 0.2%
1994 4 0.9%
1995 1 0.2%
1996 4 0.9%
1997 2 0.4%
1998 5 1.1%
1999 9 1.9%
2000 9 1.9%
2001 7 1.5%
2002 12 2.6%
2003 6 1.3%
2004 3 0.6%
2005 10 2.2%
2006 12 2.6%
2007 16 3.5%
2008 8 1.7%
2009 11 2.4%
2010 22 4.8%
2011 27 5.8%
2012 22 4.8%
2013 29 6.3%
2014 17 3.7%
2015 27 5.8%
2016 22 4.8%
2017 29 6.3%
2018 32 6.9%
2019 40 8.6%
2020 37 8.0%
2021 35 7.6%