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166 variant records found

[show instead phene records]

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 Variant ID OMIA Phene-Species 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
1322 OMIA001402-9685 domestic cat Adverse reaction to certain drugs ABCB1 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 A2 g.93144355_93144356del c.1930_1931del NM_001171064.2; published as ABCB1:1930_1931delTC; resuling in a frameshift generating a series of stop codons immediately downstream from the deletion. The protein product is predicted to be severely truncated (~50%) and non functional. (Mealey and Burke, 2015) 2015 25660379 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1073 OMIA000388-9685 domestic cat Domestic Shorthair Fibrodysplasia ossificans progressiva ACVR1 missense Naturally occurring variant yes Felis_catus_9.0 C1 g.150014354C>T c.617G>A p.(R206H) XM_023259334.1; XP_023115102.1 2019 31007133 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1214 OMIA001222-9685 domestic cat Persian Leber congenital amaurosis AIPL1 nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 E1 g.940445C>T c.577C>T p.(R193*) XM_023243858.1:c.577C>T 2016 27030474 The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770)
1292 OMIA002316-9685 domestic cat Sphynx Cardiomyopathy, hypertrophic ALMS1 missense Naturally occurring variant unknown Felis_catus_9.0 A3 g.92439157G>C c.7384G>C p.(G2462R) cDNA and protein positions have been predicted using Ensemble VEP based on transcript ENSFCAT00000077013.1 2021 33639992
550 OMIA001551-9685 domestic cat Burmese Brachycephaly ALX1 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 B4 g.110088245_110088256del c.497_508del p.(A166_T169del) XM_003989090.4; XP_003989139.1; published as c.496delCTCTCAGGACTG 2016 26610632 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1320 OMIA000666-9685 domestic cat Siamese Mucopolysaccharidosis VI, mild, in L476P/D520N cats ARSB missense Naturally occurring variant yes Felis_catus_9.0 A1 g.145138738C>T c.1558G>A p.(D520N) NM_001142259.1; NP_001135731.1; D520N/D520N and L476P/D520N cats have normal growth and appearance. L476P/D520N cats have a very mild MPS VI phenotype (increased incidence of degenerative joint disease). 1998 9421472 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
132 OMIA000666-9685 domestic cat Siamese Mucopolysaccharidosis VI ARSB missense Naturally occurring variant yes Felis_catus_9.0 A1 g.145138869A>G c.1427T>C p.(L476P) NM_001142259.1; NP_001135731.1 1996 8910299 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1452 OMIA002549-9685 domestic cat Bengal Coat colour and pattern, charcoal ASIP missense Naturally occurring variant no Felis_catus_9.0 A3 c.251A>G p.(Q84R) variant contributes to A^Pbe haplotype associated with charcoal colour/pattern (in exon 4, not present in Felis_catus_9.0) 2014 25143047
1453 OMIA002549-9685 domestic cat Bengal Coat colour and pattern, charcoal ASIP missense Naturally occurring variant no Felis_catus_9.0 A3 c.302A>G p.(D101G) variant contributes to A^Pbe haplotype associated with charcoal colour/pattern (in exon 4, not present in Felis_catus_9.0) 2014 25143047
1450 OMIA002549-9685 domestic cat Bengal Coat colour and pattern, charcoal ASIP missense Naturally occurring variant no Felis_catus_9.0 A3 g.25086548_A_G c.142T>C p.(S48P) NM_001009190.1; NP_001009190.1; variant contributes to A^Pbe haplotype associated with charcoal colour/pattern 2014 25143047
493 OMIA000201-9685 domestic cat Coat colour, non-agouti (black) ASIP a deletion, small (<=20) Naturally occurring variant no Felis_catus_9.0 A3 g.25086566_25086567del c.123_124del p.(M42Efs*59) NM_001009190.1; NP_001009190.1; "a 2 bp deletion in the ASIP gene [at nucleotide positions 123-124]" 2003 12620197 The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770
1451 OMIA002549-9685 domestic cat Bengal Coat colour and pattern, charcoal ASIP missense Naturally occurring variant no Felis_catus_9.0 A3 g.25086649C>G c.41G>C p.(C14S) NM_001009190.1; NP_001009190.1; variant contributes to A^Pbe haplotype associated with charcoal colour/pattern 2014 25143047
1309 OMIA002325-9685 domestic cat Encephalopathy, spongy ASPA missense Naturally occurring variant yes Felis_catus_9.0 E1 g.13585610C>G c.859G>C p.(A287P) XM_006939957.4; XP_006940019.1 2021 33779415
1347 OMIA001071-9685 domestic cat Wilson disease ATP7B missense Naturally occurring variant yes A1 p.(P550L) 2020 31687873
1136 OMIA001071-9685 domestic cat Wilson disease ATP7B missense Naturally occurring variant yes Felis_catus_9.0 A1 g.19611002C>G c.3890C>G p.(T1297R) XM_023251176.1; XM_023251176.1 2019 30561139 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
384 OMIA001244-9685 domestic cat Retinal degeneration II CEP290 splicing Naturally occurring variant yes Felis_catus_9.0 B4 g.112522818C>A c.7584+9G>T published as IVS50 + 9T>G (affected animal is homozygous G) XM_023256243.1:c.7584+9G>T 2007 17507457 The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770)
408 OMIA000698-9685 domestic cat Myotonia CLCN1 splicing Naturally occurring variant yes Felis_catus_9.0 A2 g.158986498G>T c.1930+1G>T NM_001305027.1 2014 25356766 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1213 OMIA001443-9685 domestic cat Domestic medium-haired Neuronal ceroid lipofuscinosis, 6 CLN6 nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 B3 g.39334330G>A c.668G>A p.(W223*) ENSFCAT00000025909:c.668G>A; XM_003987007.5:c.668G>A (Katz et al. (2020) 2020 32518081
431 OMIA000119-9685 domestic cat Blood group system AB CMAH regulatory Naturally occurring variant no Felis_catus_9.0 B2 g.4934641C>T published as C-371T 2007 17553163
1432 OMIA000119-9685 domestic cat Blood group system AB CMAH regulatory Naturally occurring variant no Felis_catus_9.0 B2 g.4934795G>A published as G-217A 2007 17553163
430 OMIA000119-9685 domestic cat Blood group system AB CMAH insertion, small (<=20) Naturally occurring variant no Felis_catus_9.0 B2 g.4934941_4934942insAACGAGCAACCGAAGCTG published as "an indel in the exon 1 5' UTR"; Delta-53; Felis_catus_9.0 represents the deletion allele 2007 17553163 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1431 OMIA000119-9685 domestic cat Blood group system AB CMAH missense Naturally occurring variant no Felis_catus_9.0 B2 g.4935345C>T c.139C>T p.(R47C) NM_001244985.1; NP_001231914.1; published as c.136C>T 2014 24697343 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
118 OMIA000119-9685 domestic cat Blood group system AB CMAH missense Naturally occurring variant no Felis_catus_9.0 B2 g.4935348G>A c.142G>A p.(V48M) NM_001244985.1; NP_001231914.1; initially reported as Felis_catus_6.2: B2:4587414G>A; c.139G>A; p.(V47M) 2007 17553163 The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770)
800 OMIA000119-9685 domestic cat 2019 TYPING PANEL CMAH missense Naturally occurring variant no Felis_catus_9.0 B2 g.4935385G>T c.179G>T p.(G60V) NM_001244985.1; NP_001231914.1 2016 27755584 The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770)
801 OMIA000119-9685 domestic cat Blood group system AB CMAH missense Naturally occurring variant no Felis_catus_9.0 B2 g.4935393A>G c.187A>G p.(I63V) NM_001244985.1; NP_001231914.1 2016 27755584
119 OMIA000119-9685 domestic cat 2019 TYPING PANEL CMAH missense Naturally occurring variant no Felis_catus_9.0 B2 g.4938728T>A c.268T>A p.(Y90N) NM_001244985.1; NP_001231914.1; published as c.265T>A (2007); revised designation of c.268T>A was reported by Kehl et al. (2019) 2007 17553163 The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770)
1446 OMIA000119-9685 domestic cat Blood group system AB CMAH missense Naturally occurring variant no Felis_catus_9.0 B2 g.4947482C>A c.327A>C p.(E109D) NM_001244985.1; NP_001231914.1; published as c.327A>C; variant is reported to be not causal for blood type B, but may impact Neu5GC levels (Omi et al.,2016). The Felis_catus_9.0 reference genome represents the C allele, while transcript NM_001244985.1 represents the A allele. 2016 27171395
799 OMIA000119-9685 domestic cat 2019 TYPING PANEL CMAH missense Naturally occurring variant no Felis_catus_9.0 B2 g.4947519C>T c.364C>T p.(P122S) NM_001244985.1; NP_001231914.1 2016 27171395 The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770)
1413 OMIA000119-9685 domestic cat Blood group system AB CMAH missense Naturally occurring variant no Felis_catus_9.0 B2 g.4953568G>A c.773G>A p.(R258Q) NM_001244985.1; NP_001231914.1 2021 34589535
1430 OMIA000119-9685 domestic cat Blood group system AB CMAH deletion, small (<=20) Naturally occurring variant no Felis_catus_9.0 B2 g.4955359del c.933del p.(A312Hfs*6) NM_001244985.1; NP_001231914.1 2018 30235335 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1062 OMIA000119-9685 domestic cat 2019 TYPING PANEL CMAH deletion, small (<=20) Naturally occurring variant no Felis_catus_9.0 B2 g.4978934del c.1322del p.(L441*) NM_001244985.1; NP_001231914.1; published as c.1322delT 2018 30235335 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
120 OMIA000119-9685 domestic cat Blood group system AB CMAH missense Naturally occurring variant no Felis_catus_9.0 B2 g.4985762G>A c.1603G>A p.(D535N) NM_001244985.1; NP_001231914.1; also published as c.1600G>A; p.(D534N) 2007 17553163 The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770)
1465 OMIA002165-9685 domestic cat Bombay classical Ehlers-Danlos syndrome COL5A1 nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 D4 g.93209345T>A c.3514A>T p.(Lys1172*) XM_023242950.1; XP_023098718.1 2022 35627182
1025 OMIA002165-9685 domestic cat Domestic Shorthair Ehlers-Danlos syndrome, classic type, 1 COL5A1 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 D4 g.93210344del c.3420del p.(L1141Sfs*134) XM_023242951.1; XP_023098719.1; published as c.3420delG 2018 30246406
1466 OMIA002165-9685 domestic cat Domestic Shorthair classical Ehlers-Danlos syndrome COL5A1 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 D4 g.93215496del c.3066del p.(Gly1023Valfs*50) XM_023242950.1; XP_023098718.1 2022 35627182
1464 OMIA002165-9685 domestic cat Bengal classical Ehlers-Danlos syndrome COL5A1 deletion, gross (>20) Naturally occurring variant yes Felis_catus_9.0 D4 g.93331577_93331598del c.112_118+15del r.spl? XM_023242950.1 2022 35627182
944 OMIA001621-9685 domestic cat Devon Rex Sphynx Muscular dystrophy-dystroglycanopathy (limb-girdle) COLQ missense Naturally occurring variant yes Felis_catus_9.0 C2 g.135068287C>T c.1190G>A p.(C397Y) rs869320615 2015 26327126 26374066 Genomic location obtained via Ensembl's VEP
1463 OMIA002159-9685 domestic cat British Shorthair Copper (British recessive wideband) CORIN wb^BSH nonsense (stop-gain) Naturally occurring variant no Felis_catus_9.0 B1 c.2425C>T p.(R809*) ON640807 2022 35703390
1456 OMIA002159-9685 domestic cat Siberian Extreme sunshine (Siberian recessive extreme wideband) CORIN wb^eSIB missense Naturally occurring variant no Felis_catus_9.0 B1 g.167737406G>A c.839G>A p.(C280Y) XM_019829549.2; XP_019685108.1; reported as Genbank ID ON355336 2022 35574714
1313 OMIA002159-9685 domestic cat Siberian Sunshine (golden) CORIN wb^SIB missense Naturally occurring variant no Felis_catus_9.0 B1 g.167809720C>T c.2383C>T p.(R795C) XM_019829551.2; XP_019685110.1 2021 33970502 Genomic position in Felis_catus_9.0 provided by Joshua Khamis.
1428 OMIA002533-9685 domestic cat Domestic Shorthair Osteogenesis imperfecta CREB3L1 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 D1 g.100436508_100436509del c.370_371del p.(C124Lfs) XM_003993204.4; XP_003993253.1; published as c.370_371delTG 2022 35168412
916 OMIA000881-9685 domestic cat Rod-cone dysplasia CRX Rdy deletion, small (<=20) Naturally occurring variant yes F.catus_Fca126_mat1.0 E2 g.9492897del c.546del p.(P185Lfs*2) XM_045045412.1; XP_044901347.1; published as CRX: n.546delC; in the Felis_catus_9.0 assembly the CRX gene is duplicated and genomic coordinates in this table are given for a more recent reference genome 2010 20053974
1155 OMIA002131-9685 domestic cat Domestic Shorthair Methaemoglobinaemia, CYB5R3-related CYB5R3 missense Naturally occurring variant yes Felis_catus_9.0 B4 g.137967506C>T c.625G>A p.(G209S) Jaffey e al. (2019): "p.Gly209Ser amino acid change in transcript CYB5R3-202 (ENSFCAT00000056925) at position B4:137967506" 2019 31650629
1156 OMIA002131-9685 domestic cat Domestic Shorthair Methaemoglobinaemia, CYB5R3-related CYB5R3 splicing Naturally occurring variant yes Felis_catus_9.0 B4 g.137970815C>G c.232-1G>C Jaffey et al. (2019): "a putative loss of function splice acceptor variant at c.232-1G>C in the CYB5R3-202 transcript (ENSFCAT00000056925) at position B4:137970815 that is in the acceptor site for exon 4, which likely affects downstream translation of the protein." 2019 31650629
117 OMIA001661-9685 domestic cat Adrenal hyperplasia, congenital, due to 11-beta hydroxylase deficiency CYP11B1 missense Naturally occurring variant yes Felis_catus_9.0 F2 g.84247412G>A c.1151G>A p.(R384Q) XM_004000154.3; XP_004000203.1 published as "a guanosine-to-adenosine mutation in exon 7 that results in an arginine to glutamine amino acid substitution; this latter mutation results in 11β-hydroxylase deficiency-associated CAH in people [Parajes et al. (2010) J Clin Endocrinol Metab 95:779–788]. 2012 22827537 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
502 OMIA000837-9685 domestic cat Vitamin D-deficiency rickets, type I CYP27B1 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 B4 g.86180281del c.731del p.(R244Pfs*32) XM_003988966.3; XP_003989015.1; published as c.731delG 2009 19138382 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
315 OMIA000837-9685 domestic cat Vitamin D-deficiency rickets, type I CYP27B1 nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 B4 g.86180375C>A c.637G>T p.(E213*) XM_003988966.3; XP_003989015.1; 2012 22553308 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1308 OMIA001484-9685 domestic cat Abyssinian Burmese Maine Coon Oriental shorthair Ticked DKK4 Ti^CK missense Naturally occurring variant no Felis_catus_9.0 B1 g.42620835C>T c.53C>T p.(A18V) 2021 33780570 ENSFCAT00000034752:c.53C>T; XM_023252567.1:c53C>T
1307 OMIA001484-9685 domestic cat Abyssinian Ticked DKK4 Ti^A missense Naturally occurring variant no Felis_catus_9.0 B1 g.42621481G>A c.188G>A p.(C63Y) published as g.41621481G>A 2021 33780570 (XM_023252567.1; ENSFCAT00000034752: c.188G>A)
922 OMIA001081-9685 domestic cat Domestic Shorthair Muscular dystrophy, Duchenne type DMD deletion, gross (>20) Naturally occurring variant yes X A deletion of the muscle promoter and first exon and the Purkinje neuronal first exon of the DMD gene 1994 7881288
923 OMIA001081-9685 domestic cat Domestic Shorthair Muscular dystrophy, Duchenne type DMD deletion, gross (>20) Naturally occurring variant yes X A large deletion that "involved regions of the dystrophin gene that are poorly characterized, including the cortical neuronal promoter and its first exon and the skeletal neuronal promoter and its first exon" 2014 24446404
125 OMIA001776-9685 domestic cat Dihydropyrimidinase deficiency DPYS missense Naturally occurring variant yes Felis_catus_9.0 F2 g.52064442C>T c.1303G>A p.(G435R) XM_023248231.1; XP_023103999.1 2012 23430934 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1392 OMIA002452-9685 domestic cat Domestic Shorthair Hair shaft dysplasia DSG4 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 D3 g.55315010del c.76del p.(I26Lfs*4) XM_019815116.1; XP_019670675.1 2022 34878611
1393 OMIA002452-9685 domestic cat Domestic Shorthair Hair shaft dysplasia DSG4 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 D3 g.55336127del c.1777del p.(H593Tfs*23) XM_019815116.1; XP_019670675.1 2022 34878611
1439 OMIA001457-9685 domestic cat Multiple acyl-CoA dehydrogenase deficiency ETFDH missense Naturally occurring variant yes Felis_catus_9.0 B1 g.71374631A>C c.692T>G p.(F231C) NM_001290236.1; NP_001277165.1 2014 24142280 Thanks to Heidi Anderson for alerting OMIA to this paper; 31 March 2022
1467 OMIA002554-9685 domestic cat Mixed breed Osteochondromatosis (feline leukemia virus-negative) EXT1 duplication Naturally occurring variant yes F.catus_Fca126_mat1.0? F2 g.61870704dup c.1468dup p.(L490Pfs*31) XM_023248762.2; 2022 35719100
1472 OMIA000363-9685 domestic cat Maine Coon Factor XI deficiency F11 missense Naturally occurring variant yes Felis catus 9.0 B1 g.17176154G>A c.1546G>A p.(V516M) XM_003984601.5; XP_003984650.2 2022 35627175
533 OMIA000364-9685 domestic cat Factor XII deficiency F12 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 A1 g.175381114del c.1321del p.(L441Cfs*119) NM_001168212.2; NP_001161684.2; published as c.1321delC 2015 24793828 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
147 OMIA000364-9685 domestic cat Domestic Shorthair Factor XII deficiency F12 missense Naturally occurring variant yes Felis_catus_9.0 A1 g.175382065G>C c.1631G>C p.(G544A) NM_001168212.2; NP_001161684.2 2017 28392508 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
127 OMIA000438-9685 domestic cat Domestic Longhair Haemophilia B F9 missense Naturally occurring variant yes Felis_catus_9.0 X g.117091961A c.383G>A p.(C128Y) NM_001009377.3; NP_001009377.1; published as p.(C82Y); coordinates in the table have been updated to a recent reference genome and / or transcript 2005 15822564 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
310 OMIA000438-9685 domestic cat Haemophilia B F9 nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 X g.117111577C>T c.1150C>T p.(R384*) NM_001009377.3; NP_001009377.1; published as p.(R338*); coordinates in the table have been updated to a recent reference genome and / or transcript 2005 15822564 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
613 OMIA002064-9685 domestic cat British Shorthair Autoimmune lymphoproliferative syndrome FASLG duplication Naturally occurring variant yes Felis_catus_9.0 F1 g.16871916dup c.418dup p.(R140Kfs*37) NM_001009352.1; NP_001009352.1; published as c.413_414insA "insertion of an adenine at position 14,607,400 [Felis_Catus_6.2]" (Aberdein et al., 2017); changed in this table to a recent reference genome and HGVS nomenclature 2017 27770190
1368 OMIA000439-9685 domestic cat Maine Coon Long hair FGF5 M5 missense Naturally occurring variant unknown Felis_catus_9.0 B1 g.142165850C>T c.577G>A p.(A193T) NM_001114546.1; NP_001108018.1 2021 34599367
130 OMIA000439-9685 domestic cat Long hair FGF5 M4 missense Naturally occurring variant no Felis_catus_9.0 B1 g.142165952T>G c.475A>C p.(T159P) NM_001114546.1; NP_001108018.1; published as c.474delT; variant can be in a haplotype with c.474del 2007 17433015 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
498 OMIA000439-9685 domestic cat Maine Coon Ragdoll Long hair FGF5 M3 deletion, small (<=20) Naturally occurring variant no Felis_catus_9.0 B1 g.142165953del c.474del NM_001114546.1; NP_001108018.1; published as c.474delT; variant can be in a haplotype with c.475A>C resulting in two different predicted effects on the protein 2007 17433015 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
311 OMIA000439-9685 domestic cat Norwegian Forest Long hair FGF5 M2 nonsense (stop-gain) Naturally occurring variant no Felis_catus_9.0 B1 g.142177919G>A c.406C>T p.(R136*) NM_001114546.1; NP_001108018.1 2007 17767004 The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770)
595 OMIA000439-9685 domestic cat Ragdoll Long hair FGF5 M1 insertion, small (<=20) Naturally occurring variant no Felis_catus_9.0 B1 g.142185646_142185647insA c.356_357insT p.(M119Ifs) NM_001114546.1; NP_001108018.1; published as c.ins356T 2007 17767004 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1319 OMIA001949-9685 domestic cat Birman Hypotrichosis, with short life expectancy FOXN1 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 E1 g.18255880_18255883del c.1030_1033del p.L344Gfs XM_019817475.2; XP_019673034.1; published as c.1030_1033delCTGT; predicted to cause a frameshift leading to a premature stop codon at position 547 2015 25781316 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
742 OMIA000420-9685 domestic cat Norwegian Forest Glycogen storage disease IV GBE1 delins, gross (>20) Naturally occurring variant yes Felis_catus_9.0 C2 g.34744479_34781895delinsN[334] published as "334 bp insertion at the site of a 6.2 kb deletion that extends from intron 11 to intron 12 (g. IVS11+1552_IVS12-1339 del6.2kb ins334 bp), removing exon 12" 2007 17257876 Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley.
1221 OMIA002366-9685 domestic cat Toyger Holoprosencephaly GDF7 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 A3 g.127002233_127002239del c.221_227del p.(R74Pfs*17) XM_023252074.1; XP_023107842.1; published as "a 7 bp deletion in the coding region of GDF7 (c.221_227delGCCGCGC [p.Arg74Profs*17]) at the position A3:127002233 (ENSFCAT00000063603)" (Yu et al., 2020) 2020 32575532
126 OMIA000402-9685 domestic cat Gangliosidosis, GM1 GLB1 missense Naturally occurring variant yes Felis_catus_9.0 C2 g.158932167C>G c.1448G>C p.(R483P) 2008 18353697 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
496 OMIA001427-9685 domestic cat Gangliosidosis, GM2, GM2A deficiency GM2A deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 A1 g.198114664_198114667del c.516_519del p.(V173Sfs*17) XM_003981379.5; XP_003981428.2; published as c.516_519delGGTC 2005 16200419 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1035 OMIA001248-9685 domestic cat Domestic Shorthair Mucolipidosis II GNPTAB nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 B4 g.124431151G>A c.2644C>T p.(Q882*) XM_003989173.5; XP_003989222.2 2018 30591066 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
383 OMIA000821-9685 domestic cat Primary hyperoxaluria type II (Oxalosis II) GRHPR splicing Naturally occurring variant yes Felis_catus_9.0 D4 g.60968927G>A p.(N169Kfs*46) "point mutation, G to A, . . . at the 3# splice acceptor site of intron 4" ; protein position based on XP_006939354.1 2009 Reference not in PubMed; see OMIA 000821-9685 for reference details
133 OMIA000667-9685 domestic cat Mucopolysaccharidosis VII GUSB missense Naturally occurring variant yes Felis_catus_9.0 E3 g.16120173G>A c.1051G>A p.(E351K) NM_001009310.1; NP_001009310.1; published as "single G-to-A transition at nucleotide position 1074, predicting a glutamate-to-lysine substitution of amino acid residue 351 (E351K)" 1999 10366443 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
139 OMIA000667-9685 domestic cat Mucopolysaccharidosis VII GUSB missense Naturally occurring variant yes Felis_catus_9.0 E3 g.[16123229T>G;16123232C>T] c.[1423T>G;1426C>T] p.(S475_R476delinsAW) NM_001009310.1; NP_001009310.1; published as c.1421T>G and c.1424C>T; coordinates in the table have been updated to a recent reference genome and / or transcript 2015 26118695 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
145 OMIA001987-9685 domestic cat Japanese domestic Bobtail HES7 JBT missense Naturally occurring variant yes Felis_catus_9.0 E1 g.2918735A>G c.5A>G p.(V2A) XM_003996191.4:c.5T>C; Felis_catus_6.2: g.2819475A>G 2016 27030474 The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770)
497 OMIA001462-9685 domestic cat Korat Gangliosidosis, GM2, type II (Sandhoff or variant 0) HEXB deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 A1 g.141540010del c.39del p.(L14Sfs*82) NM_001009333.2; NP_001009333.2; published as c.39delC 1994 8178934 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
309 OMIA001462-9685 domestic cat Japanese domestic Gangliosidosis, GM2, type II (Sandoff or variant 0) HEXB nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 A1 g.141565348C>T c.667C>T p.(R223*) NM_001009333.2; NP_001009333.2 2007 16872651 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
381 OMIA001462-9685 domestic cat Burmese Gangliosidosis, GM2, type II (Sandhoff or variant 0) HEXB splicing Naturally occurring variant yes Felis_catus_9.0 A1 g.141571030_141571044del c.1244-8_1250del NM_001009333.2 2009 19231264 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
741 OMIA001462-9685 domestic cat Domestic Shorthair Gangliosidosis, GM2, type II (Sandhoff or variant 0) HEXB inversion Naturally occurring variant yes Felis_catus_9.0 A1 g.141571788_141571812inv c.1467_1491inv p.(F489Lfs*4) NM_001009333.2; NP_001009333.2 2004 15081585 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
596 OMIA001493-9685 domestic cat Porphyria, acute intermittent HMBS insertion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 D1 16541468dup c.189dup p.(L64Sfs*2) NM_001177808.1; NP_001171279.1; published as c.189dupT 2010 19934113 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
530 OMIA001493-9685 domestic cat Porphyria, acute intermittent HMBS deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 D1 g.16540928_16540931del c.107_110del p.(D36Vfs*6) NM_001177808.1; NP_001171279.1; published as c.107_110delACAG 2013 24239138 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
135 OMIA001493-9685 domestic cat Porphyria, acute intermittent HMBS missense Naturally occurring variant yes Felis_catus_9.0 D1 g.16541614G>A c.250G>A p.(A84T) NM_001177808.1; NP_001171279.1 2013 24239138 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
136 OMIA001493-9685 domestic cat Porphyria, acute intermittent HMBS missense Naturally occurring variant yes Felis_catus_9.0 D1 g.16542541C>T c.445C>T p.(R149W) NM_001177808.1; NP_001171279.1 2013 24239138 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
402 OMIA001493-9685 domestic cat Porphyria, acute intermittent HMBS splicing Naturally occurring variant yes Felis_catus_9.0 D1 g.16544575G>A c.826-1G>A NM_001177808.1 2013 24239138 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
501 OMIA001493-9685 domestic cat Porphyria, acute intermittent HMBS deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 D1 g.16544592_16544594del c.842_844del p.(G281del) NM_001177808.1; NP_001171279.1; published as c.842_844delGAG 2013 24239138 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1423 OMIA002116-9685 domestic cat Donskoy Pink-eye HPS5 splicing Naturally occurring variant yes Felis_catus_9.0 D1 g.76211236C>T c.2571-1G>A XM_006937131.3 2020 32558164
1222 OMIA002229-9685 domestic cat Lykoi Hypotrichia and Roaning HRhairless hr^TN duplication Naturally occurring variant yes Felis_catus_9.0 B1 g.36040784_36040785dup c.1255_1256dup p.(Q420Sfs*100) ENSFCAT00000012982.5; ENSFCAP00000012037.2; published as c.1255_1256dupGT 2020 32580512
1224 OMIA002229-9685 domestic cat Lykoi Hypotrichia and Roaning HRhairless hr^Fr splicing Naturally occurring variant yes Felis_catus_9.0 B1 g.36040933delinsCAG c.1404+2delinsCAG ENSFCAT00000012982.5; ENSFCAP00000012037.2; published as c.1404+2delTinsCAG; changed to HGVS nomenclature in this table; "This variant should extend and change the reading frame, including an additional 24 amino acids in the aberrant protein before a stop codon is recognized. Alternatively, a cryptic splice site may be used from within intron 4." (Buckley et al., 2020) 2020 32580512
1225 OMIA002229-9685 domestic cat Lykoi Hypotrichia and Roaning HRhairless hr^TX splicing Naturally occurring variant yes Felis_catus_9.0 B1 g.36045776G>A c.2112G>A ENSFCAT00000012982.5; ENSFCAP00000012037.2; "This variant likely disrupts the splice donor allowing read-through for an additional 12 amino acids until a stop codon is encountered .... Alternatively, a cryptic splice site may be used from within intron 8." (Buckley et al., 2020) 2020 32580512
1226 OMIA002229-9685 domestic cat Lykoi Hypotrichia and Roaning HRhairless hr^NC nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 B1 g.36047047C>T c.2243C>T p.(R748*) 2020 32580512
1227 OMIA002229-9685 domestic cat Lykoi Hypotrichia and Roaning HRhairless hr^Ca nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 B1 g.36047518C>T c.2593C>T p.(Q865*) ENSFCAT00000012982.5; ENSFCAP00000012037.2 2020 32580512
1223 OMIA002229-9685 domestic cat Lykoi Hypotrichia and Roaning HRhairless hr^VA insertion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 B1 g.36051555_36051556insGACA c.3389_3390insGACA p.(S1130Rfs*29) ENSFCAT00000012982.5; ENSFCAP00000012037.2; published as g.36051555insGACA and c.3389insGACA; changed to HGVS nomenclature in this table 2020 32580512
500 OMIA000664-9685 domestic cat Mucopolysaccharidosis I IDUA deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 B1 g.207800586_207800588del c.1042_1044del p.(D348del) NM_001305032.1; NP_001291961.1; a 3 bp deletion in the IDUA gene; HGVS 3'-rule applied to variant coordinates in this table 1999 10356309 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1245 OMIA001000-9685 domestic cat Domestic Shorthair Glanzmann's thrombasthenia ITGA2B deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 E1 g.44416063del c.1986delC p.(P662fs) ENSFCAT00000003056.6:c.1986delC; p.Pro662fs (Li et al., 2020) 2020 32935881
775 OMIA000595-9685 domestic cat Leukocyte adhesion deficiency, type I ITGB2 ITGB-2 missing exon 2 deletion, gross (>20) Naturally occurring variant yes Felis_catus_9.0 C2 g.1772101_1772124del c.46_58+11del XM_011285804.3; Bauer et al. (2017) "24 bp deletion at the exon 2 to intron 2 boundary (c.46_58 + 11del), predicting premature translational termination due to abnormal splicing of exon 1 to exon 3 or 4." 2017 28750142 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1191 OMIA002267-9685 domestic cat Bengal Progressive retinal atrophy KIF3B missense Naturally occurring variant yes Felis_catus_9.0 A3 g.26784019C>T c.1000G>A p.(A334T) ENSFCAT00000022266; c.1000G>A (p.Ala334Thr) 2020 32386558 The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770)
620 OMIA001580-9685 domestic cat Birman Feet white (gloving) KIT g delins, small (<=20) Naturally occurring variant no Felis_catus_9.0 B1 g.163986474_163986475delinsTG c.1035_1036delinsCA p.(E345_H346delinsDN) NM_001009837.3; NP_001009837.3; Montague et al. (2014) describe this variant as "two adjacent missense mutations". 2010 21147473 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
994 OMIA000209-9685 domestic cat Domestic Longhair Coat colour, dominant white KIT insertion, gross (>20) Naturally occurring variant yes Felis_catus_9.0 B1 g.164038110_164038111insN[617] published as "a FERV1 long terminal repeat (LTR) is associated with all Dominant White individuals" 2014 25085922 Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley.
732 OMIA001737-9685 domestic cat Coat colour, white spotting, KIT-related KIT insertion, gross (>20) Naturally occurring variant no Felis_catus_9.0 B1 g.164038110_164038111insN[7125] "an insertion of an entire feline endogenous retrovirus (FERV1) into intron 1 of the KIT gene." 2014 25085922 Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley.
1229 OMIA002281-9685 domestic cat Domestic Shorthair Epidermolysis bullosa, simplex, KRT14-related KRT14 nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 E1 g.42361726G>A c.979C>T p.(Q327*) XM_003996860.5; XP_003996909.2 2020 32657488 Genomic position in Felis_catus_9.0 provided by Joshua Khamis.
382 OMIA001583-9685 domestic cat Sphynx hairless KRT71 splicing Naturally occurring variant yes Felis_catus_9.0 B4 g.81048680C>T c.816+1G>A 2010 20953787 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
394 OMIA001712-9685 domestic cat Curly coat, Selkirk rex KRT71 splicing Naturally occurring variant no Felis_catus_9.0 B4 g.81050264C>G c.445-1G>C NM_001195239.1 2013 23770706 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
380 OMIA001581-9685 domestic cat Curly coat, Devon rex KRT71 complex rearrangement Naturally occurring variant no Felis_catus_9.0 B4 g.[81046358_81046359insA;81046370_81046371insCTCCAACT;81046371_81046451del] c.[1108-4_1184del;1184_1185insAGTTGGAG;1196_1197insT] NM_001195239.1; published as c.1108-4_1184del;c.1184_1185insAGTTGGAG;c.1196insT; variant causes a splicing variation 2010 20953787 Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley.
1317 OMIA001371-9685 domestic cat Domestic Longhair L-2-hydroxyglutaric aciduria L2HGDH missense Naturally occurring variant yes Felis_catus_9.0 B3 g.100207200T>C c.1301A>G p.(H434R) Coding and protein locations are based on XM_023255678.1 and XP_023111446.1, respectively 2021 34062805
1203 OMIA002273-9685 domestic cat Ural Rex Curly coat, Ural Rex LIPH delins, small (<=20) Naturally occurring variant no Felis_catus_9.0 C2 g.84136341_84136347delinsC c.477_483delinsC p.(S160_G161del) XM_023260327.1; XP_023116095.1; changed from c.478_483del to c.477_483delinsC in accordance with HGVS nomenclature [17/2/2022] 2020 32463158
649 OMIA002389-9685 domestic cat Maine Coon Spinal muscular atrophy LIX1 deletion, gross (>20) Naturally occurring variant yes Felis_catus_9.0 A1 g.161036890_161176706del published as "a ~140 kb deletion removing exons 4-6 of LIX1 and all except exon 1 of LNPEP" 2006 16899656 Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley.
434 OMIA000810-9685 domestic cat Polydactyly LMBR1 UK2 regulatory Naturally occurring variant yes Felis_catus_9.0 A2 g.169532842T>A regulatory variant in the ZPA regulatory sequence (ZRS); published as AGACACAG[A/T]AATGAG 2008 18156157 Genomic position in Felis_catus_9.0 provided by Joshua Khamis.
432 OMIA000810-9685 domestic cat Polydactyly LMBR1 Hw regulatory Naturally occurring variant yes Felis_catus_9.0 A2 g.169532844T>C regulatory variant in the ZPA regulatory sequence (ZRS); published as AGACAC[A/G]GAAATGAG 2008 18156157 Genomic position in Felis_catus_9.0 provided by Joshua Khamis, Leslie Lyons and Reuben Buckley.
1137 OMIA002221-9685 domestic cat Domestic Shorthair Vitamin D-deficiency rickets, type Ib LOC101093889 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 D1 g.72977336del c.1386del p.(F462Lfs*20) XM_003993015.5; XP_003993064.1; genomic position in accordance with HGVS 3'-rule 2019 30777056 Genomic position in Felis_catus_9.0 provided by Joshua Khamis.
522 OMIA001684-9685 domestic cat Cornish Rex German Rex Curly/woolly coat, Cornish Rex and German Rex LPAR6 deletion, small (<=20) Naturally occurring variant no Felis_catus_9.0 A1 g.22919307_22919310del c.250_253del p.(F84Efs*9) NM_001309049.1; NP_001295978.1; c.250_253delTTTG 2013 23826204 The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770)
131 OMIA001210-9685 domestic cat Hyperlipoproteinaemia LPL missense Naturally occurring variant yes Felis_catus_9.0 B1 g.38078551C>T c.1315G>A p.(G439R) NM_001042567.1; NP_001036032.1; published as c.1234G>A and p.(G412R); coordinates in the table have been updated to a recent reference genome and / or transcript 1996 8636438 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
610 OMIA002017-9685 domestic cat Glaucoma 3, primary congenita LTBP2 duplication Naturally occurring variant yes Felis_catus_9.0 B3 g.121929604_121929607dup c.1449_1452dup p.(A485Gfs) ENSFCAT00000064963.2; ENSFCAP00000046761.2; published as "a 4-bp insertion in exon 8 located at chrB3: 120995236"[felCat5] 2016 27149523 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1394 OMIA002485-9685 domestic cat British Shorthair Skeletal dysplasia, LTBP3-related LTBP3 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 D1 g.110690432del c.158del p.(G53Afs*16) XM_023240055.1; XP_023095823.1 2021 34946872
1429 OMIA001429-9685 domestic cat Tabby, atypical swirl LVRN missense Naturally occurring variant no Felis_catus_9.0 A1 p.(T139N) DNA coordinates not published; associated with an atypical swirled pattern but is incompletely penetrant 2012 22997338
307 OMIA001429-9685 domestic cat Blotched tabby LVRN nonsense (stop-gain) Naturally occurring variant no Felis_catus_9.0 A1 g.96753652C>A c.176C>A p.(S59*) XM_023254329.1; XP_023110097.1 2012 22997338 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
124 OMIA001429-9685 domestic cat Blotched tabby LVRN missense Naturally occurring variant no Felis_catus_9.0 A1 g.96754158G>A c.682G>A p.(D228N) XM_023254329.1; XP_023110097.1 2012 22997338 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
308 OMIA001429-9685 domestic cat Blotched tabby LVRN nonsense (stop-gain) Naturally occurring variant no Felis_catus_9.0 A1 g.96813484G>A c.2522G>A p.(W841*) XM_023254329.1; XP_023110097.1; Felis_catus_9.0 represents g.96813484A 2012 22997338 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1147 OMIA000185-9685 domestic cat Persian Chediak-Higashi disease LYST repeat variation Naturally occurring variant yes Felis_catus_9.0 D2 g.13289500_13308861dup c.8347-2422_9548+1749dup Buckley et al. (2020): "a tandem segmental duplication encompassing exons 30 through to 38 (NM_001290242.1:c.8347-2422_9548 + 1749dup) (NC_018733.3:g.13289500_13308861dup)" 2020 31919397
499 OMIA000625-9685 domestic cat Mannosidosis, alpha MAN2B1 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 A2 g.9011118_9011121del c.1749_1752del p.(Q584Afs) NM_001009222.1; NP_001009222.1 1997 9396732 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
123 OMIA001199-9685 domestic cat Norwegian Forest Coat colour, amber MC1R e missense Naturally occurring variant no Felis_catus_9.0 E2 g.63829934G>A c.250G>A p.(D84N) NM_001009324.1; NP_001009324.1 2009 19422360 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
561 OMIA001199-9685 domestic cat Burmese Coat colour, russet MC1R e^r deletion, small (<=20) Naturally occurring variant no Felis_catus_9.0 E2 g.63830124_63830126del c.440_442del p.(F147del) NM_001009324.1; NP_001009324.1; published as c.439_441del and p.(F146del); coordinates in the table have been updated to a recent reference genome and / or transcript 2017 27671997 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1090 OMIA001199-9685 domestic cat Kurilian Bobtail Coat colour, copal MC1R e^c deletion, small (<=20) Naturally occurring variant no Felis_catus_9.0 E2 g.63830324_63830353del c.640_669del p.(A214_R223del) NM_001009324.1; NP_001009324.1 2019 31361350
1148 OMIA001962-9685 domestic cat Domestic Shorthair Neuronal ceroid lipofuscinosis, 7 MFSD8 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 B1 g.98935076del c.780del p.(Q262Kfs*33) XM_019828986.2; XP_019684545.1; published as c.780delT 2020 31860737
495 OMIA000031-9685 domestic cat Coat colour, dilute MLPH d deletion, small (<=20) Naturally occurring variant no Felis_catus_9.0 C1 g.219396820del c.83del p.(L28Rfs*12) XM_023257818.1:c.83delT 2006 16860533 The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770)
902 OMIA000515-9685 domestic cat Ragdoll Cardiomyopathy, hypertrophic MYBPC3 missense Naturally occurring variant yes Felis_catus_9.0 D1 g.101329646G>A c.2453C>T p.(R818W) XM_019812397.1; XP_019667956.1; published as p.(R820W); coordinates in the table have been updated to a recent reference genome and / or transcript 2007 17521870 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
901 OMIA000515-9685 domestic cat Maine Coon Cardiomyopathy, hypertrophic MYBPC3 missense Naturally occurring variant yes Felis_catus_9.0 D1 g.101340772C>G c.91G>C p.(A31P) XM_019812397.1; XP_019667956.1 2005 16236761 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1121 OMIA002212-9685 domestic cat Domestic Shorthair Cardiomyopathy, hypertrophic, MYH7-related MYH7 missense Naturally occurring variant yes Felis_catus_9.0 B3 g.76166296C>T c.5647G>A p.(E1883K) XM_006932746.4; XP_006932808.1 2019 31164718 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
134 OMIA000725-9685 domestic cat Niemann-Pick disease, type C1 NPC1 missense Naturally occurring variant yes Felis_catus_9.0 D3 g.48234217C>G c.2864G>C p.(C955S) 2003 12809639 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
146 OMIA000725-9685 domestic cat Domestic Shorthair Niemann-Pick disease, type C1 NPC1 missense Naturally occurring variant yes Felis_catus_9.0 D3 g.48250290T>G c.1322A>C p.(H441P) 2017 28233346 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
420 OMIA002065-9685 domestic cat Niemann-Pick disease, type C2 NPC2 splicing Naturally occurring variant yes Felis_catus_9.0 B3 g.121872988C>T c.82+5G>A p.(G28_S29ins35) 2014 25396745 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1055 OMIA002117-9685 domestic cat Domestic Shorthair Inflammatory linear verrucous epidermal nevi NSDHL missense Naturally occurring variant yes Felis_catus_9.0 X g.127926365A>G c.397A>G p.(S133G) XM_004000985.5; XP_004001034.1 2019 30474267 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1278 OMIA002303-9685 domestic cat Cerebral dysgenesis PEA15 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 F1 g.66768324del c.176del p.(N59Tfs*29) XM_023247767.1; XP_023103535.1; published as felCat9 chrF1:66768323 GT -> G; c.176delA by Graff et al. (2020) 2020 33290415
314 OMIA000807-9685 domestic cat Persian Polycystic kidney disease PKD1 nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 E3 g.42858112C>A c.9882C>A p.(C3294*) This variant was published as c.10063C>A, p.(C3284*); positions in this table are based on NC_018738.3 and XP_023102816.1, respectively 2004 15466259
1424 OMIA002525-9685 domestic cat Siberian Polycystic kidney disease 2 PKD2 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 B1 g.134992553del c.2211del (p.K737Nfs*2) XM_011281830.3; XP_011280132.2; published as c.2211delG 2021 33785770
899 OMIA000844-9685 domestic cat Abyssinian Brazilian Somali Pyruvate kinase deficiency of erythrocyte PKLR splicing Naturally occurring variant yes Felis_catus_9.0 F1 g.70310110G>A c.707-53G>A XM_023247386.1:c.707-53G>A; published as c.693+304G>A 2012 23110753 The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770)
1377 OMIA002469-9685 domestic cat Retinopathy RDH5 missense Naturally occurring variant yes Felis_catus_9.0 B4 g.84417264G>T c.542G>T p.(G181V) XM_019835050.1; XP_019690609.1 2021 34726233 Genomic position in Felis_catus_9.0 provided by Joshua Khamis.
433 OMIA000810-9685 domestic cat Polydactyly SHH UK1 regulatory Naturally occurring variant yes Felis_catus_9.0 A2 g.169533066C>G regulatory variant in the ZPA regulatory sequence (ZRS); published as CC[G/C]GTG 2008 18156157 Genomic position in Felis_catus_9.0 provided by Joshua Khamis, Leslie Lyons and Reuben Buckley.
1354 OMIA000593-9685 domestic cat Turkish Van Acrodermatitis enteropathica SLC39A4 missense Naturally occurring variant yes Felis_catus_9.0 F2 g.85320523C>G c.1057G>C p.(G353R) cDNA and protein position based on XM_004000173.3 and XP_004000222.2, respectively 2021 34573291
141 OMIA000256-9685 domestic cat Domestic Shorthair Cystinuria, type I - A SLC3A1 missense Naturally occurring variant yes Felis_catus_9.0 A3 g.66539609C>T c.1342C>T p.(R448W) XM_003983937.5:c.1342C>T; Felis_catus_6.2: g.66470414C>T 2015 25417848 The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770)
142 OMIA002023-9685 domestic cat Cystinuria, type B SLC7A9 missense Naturally occurring variant yes Felis_catus_9.0 E2 g.20218196G>A c.706G>A p.(D236N) 2016 27404572 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. Thank you to Heidi Anderson for feedback on a previous incorrect breed association for this variant.
143 OMIA002023-9685 domestic cat Maine Coon Siamese Sphynx Cystinuria, type B SLC7A9 missense Naturally occurring variant yes Felis_catus_9.0 E2 g.20219555T>A c.881T>A p.(V294E) 2016 27404572 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. Thank you to Heidi Anderson for feedback on a previous incorrect breed association for this variant.
144 OMIA002023-9685 domestic cat Cystinuria, type B SLC7A9 missense Naturally occurring variant yes Felis_catus_9.0 E2 g.20228722C>T c.1175C>T p.(T392M) 2016 27404572 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1193 OMIA001795-9685 domestic cat Niemann-Pick disease, type A SMPD1 nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 D1 g.65190416G>A c.1017G>A p.(W339*) XM_006937046.3; XP_006937108.1 2020 32347185 Genomic position in Felis_catus_9.0 provided by Joshua Khamis.
1425 OMIA002526-9685 domestic cat Alimentary lymphoma, inducer of STAT5B missense Naturally occurring variant yes Felis_catus_9.0 E1 g.42844462T>G c.1924A>C p.(N642H) XP_023100377.1; XM_023244609.1; SOMATIC MUTATION 2021 34680385
525 OMIA000975-9685 domestic cat Tail, short T deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 B2 g.152019395del c.1196del p.(P399Rfs*26) XM_003986708.3; XP_003986757.2; published as c.1199delC and p.(P400Rfs*26); coordinates in the table have been updated to a recent reference genome and / or transcript and in accordance with HGVS 3'-rule 2013 23949773 Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley.
524 OMIA000975-9685 domestic cat Tail, short T deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 B2 g.152019424del c.1166del p.(P389Rfs*36) XM_003986708.3; XP_003986757.2; published as c.1169delC and p.(P390Rfs*36); coordinates in the table have been updated to a recent reference genome and / or transcript and in accordance with HGVS 3'-rule 2013 23949773 Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley.
523 OMIA000975-9685 domestic cat Tail, short T deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 B2 g.152021379del c.995delT p.(L332Pfs*22) XM_003986708.3; XP_003986757.2; published as c.998delT and p.(L333Pfs*22); coordinates in the table have been updated to a recent reference genome and / or transcript 2013 23949773 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
623 OMIA000975-9685 domestic cat Tail, short T delins, small (<=20) Naturally occurring variant no Felis_catus_9.0 B2 g.[152021360_152021362del;152021363_152021379dup] c.[995_1011dup;1011_1014del] p.(A338Sfs*21) XM_003986708.3; XP_003986757.2; published as c.998_1014dup17delGCC and p.(A339Sfs*21); coordinates in the table have been updated to a recent reference genome and / or transcript 2013 23949773 Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley.
1132 OMIA002219-9685 domestic cat Domestic Shorthair Hypogonadotropic hypogonadism, TAC3-related TAC3 missense Naturally occurring variant yes Felis_catus_9.0 B4 g.85517451C>T c.220G>A p.(V74M) Hug et al. (2019): XM_003988924.5:c.220G>A; XP_003988973.1:p.(Val74Met) 2019 31615056
650 OMIA001617-9685 domestic cat Sweet taste, lack of TAS1R2 deletion, gross (>20) Naturally occurring variant yes Felis_catus_9.0 C1 Felis_catus_9.0 the TAS1R2 gene in cats, tigers and cheetahs has "a 247-base pair microdeletion in exon 3 and stop codons in exons 4 and 6 ... cat Tas1r2 is an unexpressed pseudogene" 2005 16103917
1279 OMIA002304-9685 domestic cat Maine Coon Unknown significance TNNT2 splicing Naturally occurring variant yes Felis_catus_9.0 F1 g.42204052C>T c.95-108G>A This particular variant was a single base pair substitution (G to A) within intron 3, corresponding to c.95-108G > A of ENSFCAG00000004613 (McNamara et al., 2020). Based on the evidence provided by Schipper et al. (2022), this variant is now classified as having "unknown significance". For archival reasons, the variant remains in the OMIA variant table, but its "unknown significance" classification clearly indicates that, on the basis of current knowledge (2 June 2022), it "should not be used for breeding decisions regarding HCM" (Schipper et al., 2022) 2020 33304277
138 OMIA000536-9685 domestic cat Domestic Shorthair Hypothyroidism TPO missense Naturally occurring variant yes Felis_catus_9.0 A3 g.142335362C>T c.1333G>A p.(A445T) XM_006930524.4; XP_006930586.2 2015 Reference not in PubMed; see OMIA 000536-9685 for reference details Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
140 OMIA000319-9685 domestic cat Scottish Fold Ears, folded TRPV4 Fd missense Naturally occurring variant yes Felis_catus_9.0 D3 g.18884219C>A c.1024G>T p.(V342F) XM_023241517.1; XP_023097285.1 2016 27063440 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
349 OMIA000202-9685 domestic cat Albinism TYR c^2 nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 D1 g.45812806G>A c.1204C>T p.(R402*) XM_003992642.4; XP_003992691.2 2017 27634063 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1024 OMIA000202-9685 domestic cat Burmese Mocha TYR c^m duplication Naturally occurring variant no Felis_catus_9.0 D1 g.45898609_45898771dup c.820_936delinsAATCTC p.(I274_L312delinsNL) Yu et al. (2019): "Sanger sequencing for genomic DNA revealed NC_018732.3:chromosome D1:45 898 609_45 898 771dup in exon 2 and intron 2 of TYR. Transcription analysis using cDNA detected c.820_936delinsAATCTC (p.I274_L312delinsNL), which caused a 111-bp (37 amino acid) deletion in the reading frame of TYR." 2019 30716167
494 OMIA000202-9685 domestic cat Coat colour, complete albinism TYR c deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 D1 g.45898772del c.939del p.(S314Pfs*9) XM_003992642.4; XP_003992691.2; published as "a cytosine deletion in TYR at position 975 in exon 2" 2006 16573534 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
122 OMIA000202-9685 domestic cat Siamese Siamese coat colour pattern TYR c^s missense Naturally occurring variant no Felis_catus_9.0 D1 g.45898803C>T c. 904G>A p.(G302R) ENSFCAT00000029640.4; ENSFCAP00000020791.3; published as c. 940G>A and p.(G302R) by Lyons et al. (2005) and p.(G301R) by Schmidt-Küntzel et al. (2005) 2005 15771720 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
121 OMIA000202-9685 domestic cat Burmese Burmese coat colour pattern TYR c^b missense Naturally occurring variant no Felis_catus_9.0 D1 g.45907839C>A c.679G>T p.(G227W) XM_003992642.4; XP_003992691.2; Felis_catus_6.2: g.46406472G>T 2005 15771720 The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770)
306 OMIA001249-9685 domestic cat Cinnamon (light brown) TYRP1 b^l nonsense (stop-gain) Naturally occurring variant no Felis_catus_9.0 D4 g.40069161C>T c.298C>T p.(R100*) NM_001042560.2; NP_001036025.2; NM_001042560.2 represents the C allele; Felis_catus_9.0 reference sequence represents the T allele 2005 16104383 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
379 OMIA001249-9685 domestic cat Chocolate TYRP1 b splicing Naturally occurring variant no Felis_catus_9.0 D4 g.40081229G>A c.1261+5G>A p.(A420_D421insX[17^18]) NM_001042560.2; NP_001036025.2; based on Lyons et al. (2005): c.1261+5G>A; based on Schmidt-Küntzel et al. (2005) this splice variant results in c.1261_1262insN[51^54]; p.(A420_D421insX[17^18]) and is inherited together with g.40068871C>G / c.8C>G / p.(A3G) 2005 16104383 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1228 OMIA002541-9685 domestic cat Munchkin Munchkin standard UGDH delins, gross (>20) Naturally occurring variant yes Felis_catus_9.0 B1 g.174882895_174886198delinsN[108] NC_018726.3:g.174882895_174886198delins108, Felis catus 9.0 (Struck et al., 2020) 2020 32605545
740 OMIA001586-9685 domestic cat Deficient acetaminophen glucuronidation UGT1A6 complex rearrangement Naturally occurring variant yes Felis_catus_9.0 C1 Felis_catus_9.0 "sequencing of the entire UGT1A6 exon 1 coding region revealed five deleterious genetic mutations ... [in cats] UGT1A6 is a pseudogene" 2000 10862526
137 OMIA001175-9685 domestic cat Porphyria, congenital erythropoietic UROS missense Naturally occurring variant yes Felis_catus_9.0 D2 g.[83467845C>T;83482394G>A] c.[140C>T;331G>A] p.[(S47F);(G111S)] XM_003994514.4; XP_003994563.1 2010 20485863 Genomic position in Felis_catus_9.0 provided by Joshua Khamis, Leslie Lyons and Reuben Buckley.
312 OMIA001759-9685 domestic cat Hypokalaemic periodic paralysis WNK4 nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 E1 g.43304422C>T c.2899C>T p.(Q967*) XM_019817922.2; XP_019673481.1 2012 23285264 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
Overall Statistics
Total number of variants 166
Variants with genomic location 163 (98.2% )
Variants in a variant database, i.e. with rs ID 1 (0.6%)
Variant Type Count Percent
complex rearrangement 2 1.2%
deletion, gross (>20) 6 3.6%
deletion, small (<=20) 36 21.7%
delins, gross (>20) 2 1.2%
delins, small (<=20) 3 1.8%
duplication 5 3.0%
insertion, gross (>20) 2 1.2%
insertion, small (<=20) 4 2.4%
inversion 1 0.6%
missense 65 39.2%
nonsense (stop-gain) 19 11.4%
regulatory 5 3.0%
repeat variation 1 0.6%
splicing 15 9.0%
Year First Reported Count Percent
1994 2 1.2%
1995 0 0.0%
1996 2 1.2%
1997 1 0.6%
1998 1 0.6%
1999 2 1.2%
2000 1 0.6%
2001 0 0.0%
2002 0 0.0%
2003 2 1.2%
2004 2 1.2%
2005 9 5.4%
2006 3 1.8%
2007 14 8.4%
2008 4 2.4%
2009 4 2.4%
2010 6 3.6%
2011 0 0.0%
2012 9 5.4%
2013 11 6.6%
2014 11 6.6%
2015 7 4.2%
2016 12 7.2%
2017 6 3.6%
2018 4 2.4%
2019 10 6.0%
2020 20 12.0%
2021 13 7.8%
2022 10 6.0%