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1656 variant records found

[show instead phene records]

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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 Year Published PubMed ID(s) Acknowledgements
2 OMIA:000042-9031 chicken Wisconsin hypoalpha mutant (WHAM), United States of America (Chicken) Analphalipoproteinaemia ABCA1 missense Naturally occurring variant yes GRCg6a Z g.54877918C>T c.265G>A p.(E89K) 2002 12364545 Variant coordinates obtained from or confirmed by EBI's Variant Effect Predictor (VEP) tool
1126 OMIA:002238-9913 taurine cattle Shorthorn (Cattle) Ichthyosis, ABCA12-related ABCA12 missense Naturally occurring variant yes ARS-UCD1.2 2 g.103016791A>G c.6776T>C p.(L2259P) NM_001191294.2:c.6776T>C; NP_001178223.2:p.(Leu2259Pro) rs5334475100 2019 31568573
1220 OMIA:002238-9913 taurine cattle Polled Hereford (Cattle) Ichthyosis, ABCA12-related ABCA12 insertion, small (<=20) Naturally occurring variant yes ARS-UCD1.2 2 g.103043495_103043496insG c.5689_5690insC p.(S1784Ifs*33) BTA 2:103043495–103043496insG; ENSBTAT00000004518.6:c.5689‐5690insC; ENSBTAP00000004518.6:p.(Ser1784Ilefs*33) (Eager et al., 2020) rs3423092881 2020 32567073
195 OMIA:002238-9913 taurine cattle Chianina (Cattle) Ichthyosis, ABCA12-related ABCA12 missense Naturally occurring variant yes ARS-UCD1.3 2 NC_037329.1:g.103030489T>C NM_001191294.2:c.5804A>G NP_001178223.2:p.(H1935R) previously listed in OMIA as ARS-UCD1.2:g.103025585T>C,  g. coordinates have been corrected after review of original paper and incorrectly assigned EVA rs ID has been removed [29/08/2024] 2008 18344998
1379 OMIA:002238-9823 pig Bama Xiang Zhu, China (Pig) Ichthyosis ABCA12 splicing Chemical mutagenesis (ENU) unknown Sscrofa11.1 15 NC_010457.5:g.117250799T>C Intronic mutation IVS49-727 A>G results in splicing alteration resulting in a 132-nt insertion and a premature stop codon (Wang et al., 2019) 2019 30925591
1050 OMIA:002179-9615 dog Labrador Retriever (Dog) 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
607 OMIA:001402-9615 dog Border Collie (Dog) Adverse reaction to certain drugs ABCB1 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 14 CanFam3.1 published as c.73insAAT - the allele is reflected by the reference sequence CanFam3.1 and NM_001003215.2 as reference: g.13737172_13737174; c.73_75, p.N25; causality of this variant should be reviewed 2010 21113104
469 OMIA:001402-9615 dog Australian Shepherd (Dog) Border Collie (Dog) Collie (Dog) German Shepherd Dog (Dog) Long-Haired Whippet (Dog) Miniature Australian Shepherd Dog (Dog) Old English Sheepdog (Dog) Shetland Sheepdog (Dog) Silken Windhound (Dog) Waller (Dog) White Swiss Shepherd Dog (Dog) Adverse reaction to certain drugs ABCB1 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 14 NC_006596.3:g.13726596_13726599del NM_001003215.2:c.228_231del NM_001003215.2:p.(D77Afs*16) 2001 11692082 Variant information initially gleaned from or confirmed by Donner et al. (2016) PLoS One 11:e0161005 and later updated to reflect HGVS nomenclature.
442 OMIA:001402-9615 dog Border Collie (Dog) Adverse reaction to certain drugs ABCB1 regulatory Naturally occurring variant no CanFam3.1 14 NC_006596.3:g.13742402A>C published as Canfam2 chr14:16692274T>G, c.-6-180T>G, possible regulatory variant associated with resistance to phenobarbital treatment in epileptic Border Collies; an association between the variant and the phenotype was not supported in a different study: PMID: 31685133 rs852787132 2011 21488961 Genomic coordinates in CanFam3.1 and EVA ID provided by Zoe Shmidt and Robert Kuhn.
1322 OMIA:001402-9685 domestic cat Balinese (Cat) Domestic Longhair Domestic medium-haired Domestic Shorthair Maine Coon (Cat) Maine Coon Polydactyl (Cat) Ragdoll (Cat) Russian Blue (Cat) Siamese (Cat) Turkish Angora (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. Additional breeds reported based on PMID:34125616 and PMID:35709088
1574 OMIA:002710-9615 dog Manchester Terrier (Dog) Cardiomyopathy, dilated, ABCC9-related ABCC9 SCDY/DCM missense Naturally occurring variant unknown Dog10K_Boxer_Tasha 27 NC_006609.4:g.21042635C>T XM_022410972.2:c.3557G>A XP_022266680.2:p.(R1186Q) XM_022410972.2; XP_022266680.2 2023 37239348
1499 OMIA:002589-8839 Mallard Blue eggshell ABCG2 regulatory Naturally occurring variant no BGI_duck1.0 NW_004676534.1 g.[3573054A>G;3573085A>G] The BGI_duck1.0 reference genome represents the blue eggshell genotype. 2020 33186356
1477 OMIA:002561-9913 taurine cattle Deutsche Holstein Schwarzbunt, Germany (Cattle) Infertility ABHD16B nonsense (stop-gain) Naturally occurring variant yes ARS-UCD1.3 13 NC_037340.1:g.53957903G>A NM_001038541.2:c.652C>T NP_001033630.1:p.(Q218*) ENSBTAT00000045249.4; ENSBTAP00000055253.1 rs468948776 2020 31963602
1388 OMIA:002368-9615 dog Golden Retriever (Dog) Ichthyosis, ABHD5-related ABHD5 ICH2 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 23 g.2587000_2587013del c.1006_1019del p.(D336Sfs*6) XM_542689.5; XP_542689.2 2022 34791225
1504 OMIA:002594-9823 pig N-acetyl-galactosamine intestinal concentration ABO deletion, gross (>20) Naturally occurring variant unknown 1 2.3kb deletion encompassing exon 8 2022 35477154
1177 OMIA:001089-9542 Japanese macaque Antigen B ABO haplotype Naturally occurring variant no Allele B reflects the peptide haplotype p.266Met + p.268Ala 2000 10984838
21 OMIA:001089-9544 Rhesus monkey Antigen A ABO haplotype Naturally occurring variant no p.266L + p.268G Allele A is reflected in the peptide haplotype p.266Leu + p.268Gly 1998 9583803
20 OMIA:001089-9541 crab-eating macaque A antigen ABO haplotype Naturally occurring variant no p.266L + p.268G Allele A is reflected in the peptide haplotype p.266Leu + p.268Gly 1998 9583803
1174 OMIA:001089-9544 Rhesus monkey Antigen B ABO haplotype Naturally occurring variant no p.266M + p.268A Allele B is a reflection of the peptide haplotype p.266Met + p.268Ala 1998 9583803
1175 OMIA:001089-9541 crab-eating macaque B antigen ABO haplotype Naturally occurring variant unknown p.266M + p.268A Allele B is a reflection of the peptide haplotype p.266Met + p.268Ala 1998 9583803
22 OMIA:001089-9579 agile gibbon Alleles A and B ABO missense Naturally occurring variant no c.2178C>A and c.2185G>C Haplotype c.2178C + c.2185G is allele A; haplotype c.2178A + c.2185C is allele B 2009 19298858
23 OMIA:001089-9580 common gibbon Blood group system ABO ABO missense Naturally occurring variant no c.2178C>A and c.2185G>C 2009 19298858
532 OMIA:001089-9598 chimpanzee O (lack of antigen) ABO O^del deletion, small (<=20) Naturally occurring variant no c.514_522delGTGCTGGAG p.(V172-E174del) 1999 10380696
24 OMIA:001089-9598 chimpanzee O (lack of antigen) ABO O^x missense Naturally occurring variant no c.791A>C p.(Y264C) 1999 10380696
1497 OMIA:002585-9615 dog Cavalier King Charles Spaniel (Dog) medium-chain acyl-CoA dehydrogenase ACADM delins, gross (>20) Naturally occurring variant yes UU_Cfam_GSD_1.0 6 g.71401388_71401389delinsCATAATTCTTAGACAATATTGAGAATTAAC c.444_445delinsGTTAATTCTCAATATTGTCTAAGAATTATG p.(T150Ifs*6) XM_038541645.1; XP_038397573.1 2022 36292732
972 OMIA:002140-9615 dog German Hunting Terrier (Dog) Exercise induced metabolic myopathy ACADVL nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 5 NC_006587.3:g.32193689C>A XM_546581.5:c.1728C>A XP_546581.3:p.(Y576*) XM_546581.5; XP_546581.3 2018 29491033
429 OMIA:001271-9913 taurine cattle Dexter (Cattle) Bulldog calf ACAN BD2 regulatory Naturally occurring variant yes ARS-UCD1.2 21 g.20377856C>T c.-198C>T rs3423095877 2007 17952705 Variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
590 OMIA:001271-9913 taurine cattle Dexter (Cattle) Highland (Cattle) Bulldog calf ACAN BD1 insertion, small (<=20) Naturally occurring variant yes ARS-UCD1.2 21 g.20422104_20422105insGGCA c.2266_2267insGGCA Variant initially identified in Dexter cattle and later reported in additional breeds: PMID:26885599 2007 17952705 Variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
1060 OMIA:001271-9915 indicine cattle (zebu) Miniature Zebu, United Kingdom of Great Britain and Northern Ireland (Cattle) Bulldog calf ACAN insertion, small (<=20) Naturally occurring variant yes ARS-UCD1.2 21 g.20428539_20428540insC c.5688_5689insC p.(V1897fs*9) cDNA position based on transcript NM_173981.2 2018 30305023
1001 OMIA:001271-9796 horse Miniature Horse (Horse) Dwarfism, ACAN-related ACAN D4 deletion, gross (>20) Naturally occurring variant yes EquCab3.0 1 NC_009144.3:g.95257479_95257499del XM_005602799.2:c.7633_7653del XP_005602856.2:p.(F2545_C2551del) Genomic positions were previosuly incorreclty listed in OMIA as g.95257458_95257500del (until 10/01/2022) and g.95257480_95257500del (until 13/06/2024). Coordinates presented in the table reflect the published rs1095048839. IT is thanking Rebecca Bellone for spotting an error in the genomic coordinates which are now corrected (26/11/2024).

rs1095048839 2018 30058072
788 OMIA:001271-9796 horse Miniature Horse (Horse) Shetland Pony (Horse) Dwarfism, ACAN-related ACAN D3* missense Naturally occurring variant yes EquCab3.0 1 NC_009144.3:g.95282140C>G XM_023650286.1:c.1513G>C XP_023506054.1:p.(A505P) ENSECAT00000040213.1:c.1513G>C ENSECAP00000032890.1:p.Ala505Pro This variant was named D3* by Eberth et al. (2018) rs1095048823 2017 27942904 Variant coordinates obtained from Eberth et al. (2018) and EVA_ID link
1000 OMIA:001271-9796 horse Miniature Horse (Horse) Quarter Horse (Horse) Warmblood (Horse) Dwarfism, ACAN-related ACAN D2 missense Naturally occurring variant yes EquCab3.0 1 NC_009144.3:g.95284530C>T XP_023506054.1:c.1270C>T XP_023506054.1:p.(V424M) rs3091781465 2018 30058072 Breed information updated based on PMID: 38600096
999 OMIA:001271-9796 horse Miniature Horse (Horse) Dwarfism, ACAN-related ACAN D1 deletion, small (<=20) Naturally occurring variant yes EquCab3.0 1 NC_009144.3:g.95291271del XM_023650281.1:c.245del XP_023506054.1:p.(K82Rfs*54) 220110: changed g.95291270del to g.95291271del based on HGVS 3'rule. ENSECAT00000040213.1:c.245del ENSECAP00000032890.1:p.Lys82ArgfsTer54 rs1095048841 2018 30058072
323 OMIA:000702-9031 chicken Nanomelia ACAN nonsense (stop-gain) Naturally occurring variant yes GRCg6a 10 g.13502829C>A c.4537G>T p.(E1513*) 1994 7827752 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1045 OMIA:002177-9615 dog Akita (Dog) American Akita (Dog) Amelogenesis imperfecta, ACP4-related ACPT insertion, small (<=20) Naturally occurring variant yes CanFam3.1 1 g.106051997dupC c.1189dupG p.(A397Gfs) XM_541473.2; XP_541473.2; ACPT is a synonym of ACP4 2019 30877375
1419 OMIA:002226-9913 taurine cattle Brown Swiss (Cattle) Haplotype with homozygous deficiency BH34 ACSL5 BH34 missense Naturally occurring variant yes ARS-UCD1.3 26 NC_037353.1:g.32940521C>G NM_001075650.1:c.528C>G NP_001069118.1:p.(N176K) NM_001075650.1 rs5357452907 2021 34915862
1259 OMIA:002226-9615 dog Australian Kelpie (Dog) 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
1073 OMIA:000388-9685 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.
633 OMIA:001520-9615 dog Glen of Imaal Terrier (Dog) 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
43 OMIA:001870-9615 dog Beagle (Dog) Glaucoma, primary open angle ADAMTS10 missense Naturally occurring variant yes CanFam3.1 20 NC_006602.3:g.53096339C>T XM_022406266.1:c.1981G>A XP_022261974.1:p.(G661R) XM_849227.3; XP_854320.1 2011 21379321
101 OMIA:001870-9615 dog Norwegian Elkhound (Dog) Glaucoma, primary open angle ADAMTS10 missense Naturally occurring variant yes CanFam3.1 20 NC_006602.3:g.53101896C>T XM_022406266.1:c.1159G>A XP_022261974.1:p.(A387T) XM_849227.3; XP_854320.1 2014 25372548 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
685 OMIA:001976-9615 dog Basset Hound (Dog) Glaucoma, primary open angle, ADAMTS17-related ADAMTS17 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 3 g.40614853_40614872del c.194_213del p.(L68Gfs*) XM_022416850.1; XP_022272558.1 2015 26474315
1086 OMIA:001976-9615 dog Petit Basset Griffon Vendeen (Dog) Glaucoma, primary open angle, ADAMTS17-related ADAMTS17 inversion Naturally occurring variant yes CanFam3.1 3 g.40812274_45768123inv c.1721+2668_*4831255inv XM_545825.4; 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) [Canfam3.1]… Analysis of RNAseq data revealed novel exon expression for ADAMTS17 due to cryptic splicing occurring 3’ of the exons located immediately upstream of the inversion event." 2015 26683476
942 OMIA:000588-9615 OMIA:001976-9615 dog Chinese Shar-Pei (Dog) 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.3069_3074del p.(V1024_V1025del) XM_014112382.2; XP_013967857.1; published as c.3070_3075delCGTGGT; p.(V1025_V1026del) 2018 29287154
365 OMIA:000588-9615 dog American Toy Terrier (Dog) Chinese Crested (Dog) German Hunting Terrier (Dog) Jack Russell Terrier (Dog) Lancashire Heeler (Dog) Miniature Bull Terrier (Dog) Parson Russell Terrier (Dog) Patterdale Terrier (Dog) Rat Terrier (Dog) Sealyham Terrier (Dog) Tenterfield Terrier (Dog) Tibetan Terrier (Dog) Toy Fox Terrier (Dog) Volpino Italiano (Dog) Welsh Terrier (Dog) Wire Fox Terrier (Dog) Yorkshire Terrier (Dog) Lens luxation ADAMTS17 splicing Naturally occurring variant yes CanFam3.1 3 NC_006585.3:g.40782144G>A XM_022416850.1:c.1473+1G>A XM_022416850.1; additional breeds reported by PMID:22050825 and PMID:37582787 rs1152388408 2010 20375329 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
96 OMIA:001976-9615 dog Basset Fauve de Bretagne (Dog) Glaucoma, primary open angle, ADAMTS17-related ADAMTS17 missense Naturally occurring variant yes CanFam3.1 3 NC_006585.3:g.40808345G>A XM_022416851.1:c.1552G>A XP_022272559.1:p.(G518S) XM_022416851.1; XP_022272559.1 2015 26474315 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
486 OMIA:000328-9913 taurine cattle Belgian Blue (Cattle) Ehlers-Danlos syndrome, type VII (Dermatosparaxis) ADAMTS2 delins, small (<=20) Naturally occurring variant yes ARS-UCD1.2 7 g.2017035_2017051delinsAGC c.464_480delinsAGC 1999 10417273 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
1513 OMIA:000328-9615 dog Alapaha Blue Blood Bulldog (Dog) American Pit Bull Terrier (Dog) Ehlers-Danlos syndrome, type VII (Dermatosparaxis) ADAMTS2 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 11 g.2280117delC c.10delC p.(P4Rfs*175) 2022 36421833
1117 OMIA:000328-9615 dog Doberman Pinscher (Dog) Ehlers-Danlos syndrome, type VII (Dermatosparaxis) ADAMTS2 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 11 NC_006593.3:g.2408978C>T XM_843844.4:c.769C>T XP_848937.1:p.(R257*) 2019 31294848
1514 OMIA:000328-9615 dog Catahoula Leopard Dog (Dog) Ehlers-Danlos syndrome, type VII (Dermatosparaxis) ADAMTS2 missense Genome-editing (CRISPR-Cas9) yes CanFam3.1 11 NC_006593.3:g.2491238G>A XM_843844.4:c.2897G>A XP_848937.1:p.(R966H) 2022 36421833
1589 OMIA:000328-9685 domestic cat Domestic Shorthair Ehlers-Danlos syndrome ADAMTS2 delins, small (<=20) Naturally occurring variant yes F.catus_Fca126_mat1.0 A1 g.90995621dup c.698dup p.(Ser235fs*3) XM_023254116.2; XP_023109884.2 2023 37462293
318 OMIA:000328-9940 sheep Dorper (Sheep) Ehlers-Danlos syndrome, type VII (Dermatosparaxis) ADAMTS2 nonsense (stop-gain) Naturally occurring variant yes Oar_rambouillet_v1.0 5 g.1938399G>T c.424G>T p.(E142*) XM_012156230:c.424G>T, XP_012011620:p.Glu142* (Joller et al., 2017) 2012 22497338 The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.
857 OMIA:000328-9940 sheep Dorper (Sheep) Ehlers-Danlos syndrome, type VII (Dermatosparaxis) ADAMTS2 nonsense (stop-gain) Naturally occurring variant yes Oar_rambouillet_v1.0 5 g.2088231G>A c.805G>A p.(V269M) XM_012156230:c.805G>A, XP_012011620:p.Val269Met (Joller et al., 2017) 2015 25354687 The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.
537 OMIA:001140-9615 dog Nova Scotia Duck Tolling Retriever (Dog) Cleft lip with or without cleft palate ADAMTS20 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 27 g.10553479_10553480del c.1358_1359del p.(K453Ifs*4) XM_022410988.1; XP_022266696.1; published as c.1360_1361delAA and p.(K453Ifs*3); coordinates in the table have been updated to a recent reference genome and / or transcript and HGVS nomenclature 2015 25798845 Genomic position in CanFam3.1 provided by Mateo Etcheveste and Robert Kuhn.
1163 OMIA:001562-9913 taurine cattle Cikasto govedo, Slovenia (Cattle) Pulmonary hypoplasia and anasarca syndrome ADAMTS3 missense Naturally occurring variant yes ARS-UCD1.3 6 NC_037333.1:g.87462016G>A NM_001192797.1:c.1222C>T NP_001179726.1:p.(H408T) NM_001192797.1: c.1222C>T; NP_001179726.1: p.(His408Tyr) (Häfliger et al., 2020) rs5334475098 2020 32069517
1750 OMIA:001562-9940 sheep Persian (Sheep) Pulmonary hypoplasia with anasarca ADAMTS3 splicing Naturally occurring variant yes Oarv3.1 6 NC_019463.1:g.87124344del XM_012180125.1:c.2055+3del XP_012035515.1:p.(V680_V685del) the variant results in the activation of a cryptic splice site within exon 14 2024 39409761
60 OMIA:001509-9615 dog Beagle (Dog) Musladin-Lueke syndrome ADAMTSL2 missense Naturally occurring variant yes CanFam3.1 9 NC_006591.3:g.49931561C>T XM_014116955.2:c.661C>T XP_013972430.1:p.(R221C) 2010 20862248 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
935 OMIA:001511-9913 taurine cattle Angus (Cattle) Contractual arachnodactyly (Fawn calf syndrome) ADAMTSL3 deletion, gross (>20) Naturally occurring variant yes 21 "a large (~58 kilobase pair) deletion affecting the ADAMTSL3 gene" 2014 Reference not in PubMed; see OMIA 001511-9913 for reference details
1435 OMIA:002535-9913 taurine cattle Original Schweizer Braunvieh, Switzerland (Cattle) Congenital cataract ADAMTSL4 missense Naturally occurring variant yes ARS-UCD1.3 3 NC_037330.1:g.20146737C>T NM_001101061.1:c.2327G>A NP_001094531.1:p.(R776H) NM_001101061.1; NP_001094531.1 rs5353205567 2022 35233794
466 OMIA:001577-9615 dog Curly Coated Retriever (Dog) Glycogen storage disease IIIa AGL deletion, small (<=20) Naturally occurring variant yes CanFam3.1 6 g.50050457del c.4223del p.(K1408Sfs*6) NM_001048096.1; NP_001041561.1; published as c.4223delA; genomic position adjusted to HGVS 3' rule 2007 17338148 Genomic and protein coordinates in CanFam3.1 provided by Robert Kuhn
934 OMIA:002135-9913 taurine cattle Angus (Cattle) Arthrogryposis multiplex congenita, AGRN-related AGRN deletion, gross (>20) Naturally occurring variant yes 16 A 23,363 bp deletion "encompasses the entirety of the ISG15 ubiquitin-like modifier (ISG15) gene . . . one or both of the 5' regulatory region of the hairy and enhancer split 4 (HES4) and of the agrin (AGRN) gene and of the first two exons of the AGRN gene" (Beever and Marron, 2011) 2011 Reference not in PubMed; see OMIA 002135-9913 for reference details
233 OMIA:000662-9940 sheep Romney Marsh (Sheep) Motor neuron disease, lower AGTPBP1 missense Naturally occurring variant yes Oar_rambouillet_v1.0 2 NC_040253.1:g.35795594G>C XM_015093043.2:c.2909G>C XP_014948529.2:p.(R970P) protein and cDNA positions are based on XP_014948529.2 and XM_015093043.2, respectively 2012 22588130 The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.
75 OMIA:001672-9615 dog Coton de Tulear (Dog) 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 2012 22486513 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1252 OMIA:001672-9940 sheep Zwartbles (Sheep) Type 1 Primary Hyperoxaluria AGXT missense Naturally occurring variant yes Oar_rambouillet_v1.0 1 NC_040252.1:g.801189C>T XM_027966918.1:c.584G>A XP_027822719.1:p.(C195Y) NC_040252.1: g.801189C>T; XM_027966918.1: c.584G>A; XP_027822719.1: p.Cys195Tyr (Letko et al., 2020) 2020 33003365
1214 OMIA:001222-9685 domestic cat Persian (Cat) 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)
1629 OMIA:002788-9913 taurine cattle Holstein Friesian (Cattle) Subfertility, AK9-related AK9 splicing Naturally occurring variant yes ARS-UCD1.2 9 g.40620329A>G rs457222030 2021 34028060
1094 OMIA:002205-9615 dog Collie Rough (Dog) 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
1240 OMIA:002250-9615 dog Saluki (Dog) Succinic Semialdehyde Dehydrogenase Deficiency ALDH5A1 missense Naturally occurring variant yes CanFam3.1 35 NC_006617.3:g.22572768G>A XM_014110599.2:c.866G>A XP_013966074.2:p.(G288D) XM_014110599.2: c.866G>A; XP_013966074.2: p.(Gly288Asp) (Vernau et al., 2020) 2020 32887425
1292 OMIA:002316-9685 domestic cat American Shorthair (Cat) Exotic Shorthair (Cat) Munchkin (Cat) Scottish Fold (Cat) Sphynx (Cat) 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; variant initially reported in Sphynx cats and in a later study (Akiyama et al., 2023) identified in other breeds. Turba et al., 2023 report additional variants in the vicinity that can result in allele dropout in DNA tests and indicate "the need to verify the correspondence between the g.92439157 C variant frequency and the prevalence of HCM" due to high allele frequency of the variant in Sphynx cats in their study. Seo et al. (2024) also identified this variant frequently in  Sphynx cats but reported that the variant "was not associated with the HCM diagnosis in the studied population." rs5334475133 2021 33639992
1021 OMIA:002162-9615 dog Karelian Bear Dog (Dog) Hypophosphatasia ALPL missense Naturally occurring variant yes CanFam3.1 2 NC_006584.3:g.77561953A>C XM_005617214.3:c.1301T>G XP_005617271.1:p.(V434G) XM_005617214.3; XP_005617271.1 2019 30700765
1486 OMIA:002162-9940 sheep Hypophosphatasia ALPL missense Genome-editing (CRISPR-Cas9) yes Oar_rambouillet_v1.0 2 NC_040253.1:g.260716094G>C XM_027965561.1:c.1077C>G XP_027821362.1:p.(I359M) XM_027965561.1; XP_027821362.1 2018 30446691
550 OMIA:002717-9685 domestic cat Burmese (Cat) 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.
764 OMIA:001009-9913 taurine cattle Shorthorn (Cattle) Tibial hemimelia ALX4 deletion, gross (>20) Naturally occurring variant yes 15 Deletion of 45,694 bp including exon 1 of ALX4 2012 Reference not in PubMed; see OMIA 001009-9913 for reference details
763 OMIA:001009-9913 taurine cattle Galloway (Cattle) Tibial hemimelia ALX4 ALX4dup-GAU / ALX4dup-LfL duplication Naturally occurring variant yes ARS-UCD1.2 15 NC_037342.1:g.74384919_74384938dup NM_001030304.1:c.713_732dup NP_001025475.1:p.(Q245fs) Initially reported as g.75154399_75154418dup in UMD3.1 and g.74384916_74384935dup in ARS-UCD1.2.. Updated  to current coordinates after publication of a correction by the authors (PMID: 39298916) [23/09/2024]. The variant is now identical to a variant reported by Buitkamp et al. (2023, PMID:36585373), which was previously listed as omia.variant:1516. Both variants are now merged into one entry and omia.variant:1516 is redundant. 2015 26076463 The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries. The same ARS-UCD1.2 location in the reverse order was included in the paper by Buitkamp et al. (2022). The allele name ALX4dup-GAU was also given by Buitkamp et al. (2022).
280 OMIA:002775-9615 dog Miniature Schnauzer (Dog) Persistent Mullerian duct syndrome AMHR2 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 27 NC_006609.3:g.1794738G>A XM_543632.6:c.262C>T XP_543632.4:p.(R88*) XM_543632.6; XP_543632.4; published as c.241C>T; coordinates in the table have been updated to a recent reference genome and / or transcript 2009 18723470
639 OMIA:000565-9615 dog Giant Schnauzer (Dog) Intestinal cobalamin malabsorption, AMN-related AMN deletion, gross (>20) Naturally occurring variant yes CanFam3.1 8 g.70807271_70807303del c.1113_1145del p.(G372_A382del) NM_001002960.1; NP_001002960.1 2005 15845892 Genomic position in CanFam3.1 provided by Robert Kuhn and Mateo Etcheveste.
426 OMIA:000565-9615 dog Australian Shepherd (Dog) Intestinal cobalamin malabsorption, AMN-related AMN start-lost Naturally occurring variant yes ROS_Cfam_1.0 8 NC_051812.1:g.71077084G>A NM_001002960.1:c.3G>A NP_001002960.1:p.(M1?) NM_001002960.1; NP_001002960.1 2005 15845892
1677 OMIA:002838-9615 dog Cirneco dell'Etna (Dog) Cirneco oculo-neurological syndrome AMPD2 CONS deletion, small (<=20) Naturally occurring variant yes UU_Cfam_GSD_1.0 6 g.42698170del c.2131del p.(D711Mfs12*)  XM_038541065.1; XP_038396993.1; NC_049227.1 2024 38397227
353 OMIA:002539-9615 dog Dalmatian (Dog) Respiratory distress syndrome ANLN nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 14 NC_006596.3:g.47812143C>T XM_005628719.3:c.31C>T XP_005628776.1:p.(R11*) 2017 28222102 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
422 OMIA:001353-9615 dog German Shepherd Dog (Dog) Platelet receptor for factor X, deficiency of ANO6 splicing Naturally occurring variant yes CanFam3.1 27 NC_006609.3:g.8912219C>T XM_005636953.1:c.1934+1G>A XM_005636953.1 2015 26414452 Variant coordinates obtained from or confirmed by EBI's Variant Effect Predictor (VEP) tool
927 OMIA:002083-9913 taurine cattle Japanese Black, Japan (Cattle) Abortion (embryonic lethality), ANXA10-related ANXA10 repeat variation Naturally occurring variant yes 8 "a "34-kb deleted-type" CNV "associated with embryonic mortality at 30-60 days after artificial insemination. The CNV harbors exon 2 to 6 of ANNEXIN A10 (ANXA10). . . . Western blot analysis showed that the CNV results in a null allele of ANXA10." 2016 27881083
580 OMIA:000248-9615 dog Collie (Dog) Neutropenia, cyclic AP3B1 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 3 g.28663129_28663130insA c.2407_2408insA p.(T803Nfs*5) NM_001002974.2; NP_001002974.1; a single base pair (A) insertion in exon 20 of the AP3 beta gene (AP3B1) rs1152388405 2003 12897784
286 OMIA:000001-9913 taurine cattle Blanco Orejinegro, Colombia (Cattle) Holstein Friesian (Cattle) Abortion due to a nonsense mutation in APAF1 on haplotype HH1 APAF1 nonsense (stop-gain) Naturally occurring variant yes ARS-UCD1.3 5 g.62810245C>T XM_015471110.2:c.1735C>T XP_015326596.1:p.(Q579*) Variant initially reported in Holstein Friesian cattle and later reported in additional breeds: PMID:34779908. Previously listed in OMIA as: p.(Q581*), c.1741C>T, updated to recent transcript information [03/09/2024] rs448942533 2016 27289157 Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
1206 OMIA:001916-9615 dog Jack Russell Terrier (Dog) Familial Adenomatous Polyposis APC delins, small (<=20) Naturally occurring variant yes CanFam3.1 3 g.312131_312132delinsAA c.[462_463delinsTT] p.(K155X) XM_014111995.2; XP_013967470.1 2020 32445578 Reference assembly and genomic location kindly provided by Kyoko Yoshizaki, 17 Dec 2020
731 OMIA:001965-9913 taurine cattle Holstein (black and white) (Cattle) Holstein cholesterol deficiency APOB insertion, gross (>20) Naturally occurring variant yes 11 "1.3kb insertion of a transposable LTR element (ERV2-1) in the coding sequence of the APOB gene, which leads to truncated transcripts and aberrant splicing [p.Gly135ValfsX10)]" 2016 26763170
436 OMIA:000991-9796 horse Quarter Horse (Horse) Androgen insensitivity syndrome (AIS) AR regulatory Naturally occurring variant yes EquCab3.0 X NC_009175.3:g.52728703A>G NM_001163891.1:c.1A>G  mutation in start codon for  NP_001157363.1; 2012 22095250 The genomic position in EquCab3.0 was provided by Ceara Mulvey, working under the guidance of Professor Ernie Bailey in April 2022
1143 OMIA:000991-9796 horse Tennessee Walking Horse (Horse) Androgen insensitivity syndrome (AIS) AR deletion, small (<=20) Naturally occurring variant yes EquCab3.0 X NC_009175.3:g.52728885del NM_001163891.1:c.183del NP_001157363.1:p.(R63Gfs) published as c.183delT and p.(Ser61fs); c. and p. information in the table has been updated to HGVS nomenclature 2020 31936796 The genomic position in EquCab3.0 was provided by Ceara Mulvey, working under the guidance of Professor Ernie Bailey in April 2022
783 OMIA:000991-9796 horse Warmblood (Horse) Androgen insensitivity syndrome AR deletion, gross (>20) Naturally occurring variant yes EquCab3.0 X NC_009175.3:g.52808634_52808658del NM_001163891.1:c.1630_1654del the deletion is predicted to create a frameshift: "resulting in altered amino acid composition from p.543Lys and a premature stop codon 44 amino acid residues downstream in exon 3 2017 28192783
786 OMIA:000991-9796 horse Thoroughbred (Horse) Androgen insensitivity syndrome AR missense Naturally occurring variant yes EquCab3.0 X NC_009175.3:g.52872393G>C NM_001163891.1:c.2042G>C NP_001157363.1:p.(W681S) 2016 27073903 The genomic position in EquCab3.0 was provided by Ceara Mulvey, working under the guidance of Professor Ernie Bailey in April 2022; p. coordinates obtained from Villagomez et al. (2019)
1144 OMIA:000991-9796 horse Thoroughbred (Horse) Androgen insensitivity syndrome (AIS) AR missense Naturally occurring variant yes EquCab3.0 X NC_009175.3:g.52878093C>T NM_001163891.1:c.2132C>T NP_001157363.1:p.(A711V) 2020 31936796
1752 OMIA:001201-9685 domestic cat Orange coat colour ARHGAP36 deletion, gross (>20) Naturally occurring variant no Felis_catus_9.0 X NC_018741.3:g.110432079_110437152del Published by Toh et al. (2024) as g.109186183_109191258del based on the AnAms1.0 reference genome (Matsumoto et al., 2024).  This deletion is located within the first intron of ARHGAP36 (Toh et al., 2024). Coordinates in this table are based on a reference genome avialable in the NCBI genome data viewer. 2024 39605675
960 OMIA:001917-9615 dog Leonberger (Dog) Saint Bernard (Dog) Polyneuropathy, ARHGEF10-related ARHGEF10 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 16 g.54349199_54349208del c.1955_1958+6del XM_005630036.3; XP_005630093.1; published as c.1955_1958+6delCACGGTGAGC - eliminating the 3'-splice junction of exon 17 and creating an alternate splice site leading to a truncated protein 2014 25275565 Genomic coordinates in CanFam3.1 provided by Robert Kuhn
780 OMIA:001334-9913 taurine cattle Swedish Red (Cattle) Sperm, short tail ARMC3 deletion, small (<=20) Naturally occurring variant yes ARS-UCD1.2 13 g.24024660del c.1442del p.(A451fs*26) rs797454424 2016 26923438 Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
56 OMIA:000666-9615 dog Miniature Schnauzer (Dog) Mucopolysaccharidosis VI ARSB deletion, gross (>20) Naturally occurring variant yes CanFam3.1 3 g.27870127_27870182del c.-24_32del NM_001048133.1 2020 32985704 g. coordinate kindly provided by Karthik Raj 29 Oct 2020
640 OMIA:000666-9615 dog Poodle, Miniature (Dog) Mucopolysaccharidosis VI ARSB deletion, gross (>20) Naturally occurring variant yes CanFam3.1 3 g.27870253_27870274del c.103_124del p.(A35Gfs*108) NM_001048133.1; NP_001041598.1 2012 22329490 Variant information initially provided by Karthik Raj and Urs Giger
859 OMIA:000666-9615 dog Great Dane (Dog) Mucopolysaccharidosis VI ARSB nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 3 NC_006585.3:g.27870445C>T NM_001048133.1:c.295C>T NP_001041598.1:p.(Q99*) NM_001048133.1; NP_001041598.1 2018 29157190 Variant information initially provided by Karthik Raj and Urs Giger, and confirmed by Ensembl's VEP
1258 OMIA:000666-9615 dog Miniature Pinscher (Dog) Mucopolysaccharidosis VI ARSB missense Naturally occurring variant yes CanFam3.1 3 NC_006585.3:g.27950471G>A NM_001048133.1:c.910G>A NP_001041598.1:p.(G304R) NM_001048133.1; NP_001041598.1 2020 32985704 g. coordinate kindly provided by Karthik Raj 29 Oct 2020
1320 OMIA:000666-9685 domestic cat Siamese (Cat) 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 OMIA:000666-9685 domestic cat Domestic Shorthair Siamese (Cat) 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 rs5334475159 1996 8910299 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
67 OMIA:001503-9615 dog American Staffordshire Terrier (Dog) Neuronal ceroid lipofuscinosis, 4A ARSG missense Naturally occurring variant yes CanFam3.1 9 NC_006591.3:g.15071276G>A XM_005624176.3:c.296G>A XP_005624233.1:p.(R99H) 2010 20679209 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
712 OMIA:000201-9913 taurine cattle Normande (Cattle) Brindle ASIP Abr insertion, gross (>20) Naturally occurring variant no 13 "insertion of a full-length Bos taurus LINE element" 2006 16827753
1321 OMIA:002200-9915 indicine cattle (zebu) Brahman (Cattle) Nellore, India (Sheep) Darkness of hair coat ASIP delins, gross (>20) Naturally occurring variant unknown 13 1155-bp deletion followed by an insertion of a transposable element of more than 150 bp that may impact the recruitment of ASIP non-coding exons (Trigo et al.2021) 2021 33910501
1199 OMIA:000201-9925 goat Peacock Goat (Goat) Valais Grüenochte Peacock ASIP A^pc repeat variation Naturally occurring variant no 13 "The ASIP allele in Peacock goats, which we propose to term “peacock” (A^pc), has a quadruplication of the same ~45 kb region having five copies in the A^b allele. It is additionally flanked by triplicated segments of 27,996 bp and 41,807 bp on the left and right side of the quadruplicated sequence (Fig 3, S4 Fig, S5 Table). The central part of the A^pc allele has exactly the same breakpoints as the A^b allele suggesting a common origin of A^b and A^pc." (Henkel et al., 2019) "63'158'171-63'203'851: 4 copies (corresponds to the CNV in the Ab allele)" (Table S5; Henkel et al., 2019) 200922: Marius picked this g. entry up as requiring attention: "g.63130175_63245658 (3 copies)". Because this will take time to sort out, I have removed it from the g. field for the time being. 2019 31841508
1200 OMIA:000201-9925 goat Bezoar (Goat) Valais Blackneck (Goat) Valais Copperneck Wild type or Bezaur ASIP A^bz reference sequence allele Naturally occurring variant no 13 "The goat genome reference sequence is derived from a San Clemente goat, which has a similar coat color pattern as bezoars. The genome reference therefore supposedly represents the wildtype allele at the ASIP locus, termed “bezoar” (Abz) [8]. Bezoars and all other Swiss goat breeds did not show any CNVs at the ASIP locus." (Henkel et al., 2019) 2019 31841508
1075 OMIA:001602-93934 Japanese quail Feather colour, fawn-2/beige ASIP Y^f2 duplication Naturally occurring variant no 20 Robic et al. (2019) concluded "that fawn-2 and beige are the same allele, and that it is caused by a 70,895-bp tandem duplication . . . [with breakpoints] (NC-029535 [1,371,395(or 98)–1,442,295 (or 98)]) . . . located downstream of the ITCH exon 1 and upstream of the ASIP exon e4 (5′ UTR). . . . The 70,895 bp of the duplicated region include the entire AHCY gene on one strand, and parts of the ASIP and ITCH genes on the other strand." 2019 30987584
665 OMIA:000201-10042 North American deer mouse New Hampshire (Chicken) Melanic (non-agouti) ASIP deletion, gross (>20) Naturally occurring variant no "a 125-kb deletion, which includes the upstream regulatory region and exons 1 and 2 of Agouti, results in a loss of Agouti expression" 2009 19649329
251 OMIA:000201-61386 Kodkod Melanism (black coat) ASIP missense Naturally occurring variant no p.(C126Y) 2015 25695801
252 OMIA:000201-61406 Colocolo Melanism (black coat) ASIP missense Naturally occurring variant no p.(R120C) 2015 25695801
1119 OMIA:000201-10141 domestic guinea pig Recessive black Asip deletion, small (<=20) Naturally occurring variant no c.181_184delTTCA MH026115: c.181_184delTTCA; the deletion leads to a truncated protein of 77 amino acids due to the premature stop codon. 2019 30746725
330 OMIA:000201-10042 North American deer mouse Alaska, United States of America (North American deer mouse) Melanic (non-agouti) ASIP nonsense (stop-gain) Naturally occurring variant no c.193?>? p.(Q65*) 2009 19649329
333 OMIA:000201-9691 leopard Coat colour, black (black panther) ASIP nonsense (stop-gain) Naturally occurring variant no c.333C>A p.(C111*) 2012 23251368
1219 OMIA:000201-9858 Western roe deer Melanistic (black) ASIP missense Naturally occurring variant no c.33G>T p.(L11F) 2020 32545389
1587 OMIA:000201-9691 leopard Coat colour, black (black panther) ASIP missense Naturally occurring variant no c.353C>A p.(C113F) 2023 37440497
1666 OMIA:000201-10007 tassel-eared squirrel Coat colour, black ASIP missense Naturally occurring variant no c.370T>C p.(C124R) 2024 38396615
504 OMIA:001602-93934 Japanese quail Feather colour, recessive black ASIP rb deletion, small (<=20) Naturally occurring variant no 20 c.373_380del "A deletion of 8 bases was found in the ASIP gene" 2008 18287406
253 OMIA:000201-61455 Asiatic golden cat Black ASIP missense Naturally occurring variant no c.384C>G p.(C128W) 2012 23251368
1010 OMIA:000201-9838 Arabian camel Black and dark-brown coat colour ASIP haplotype Naturally occurring variant no c.[23delT;c.25G>A] KU179868; c.[23delT;c.25G>A]. As described by Almathen et al. (2018), this haplotype comprises "a 1-bp deletion (23delT/T) and a SNP (25G/A) in exon 2 of ASIP". 2018 29893870
654 OMIA:001602-93934 Japanese quail Feather colour, lethal yellow ASIP Y deletion, gross (>20) Naturally occurring variant yes 20 g.1463709_1604872del Nadeau et al. (2008): "a >90-kb [141162bp] deletion upstream of ASIP" 2008 18287407 The g. coordinates were provided by Robic et al. (2019)
1196 OMIA:000201-9925 goat Appenzell (Goat) Girgentana, Italy (Goat) Saanen (Goat) White or tan ASIP A^Wt repeat variation Naturally occurring variant no ARS1.2 13 "CNV [copy number variation] affecting a region of less that 100 kb including the ASIP and AHCY genes" (Fontanesi et al., 2009)."spans 154,677 bp ofthe reference genome sequence and comprises the entire coding sequence ofthe ASIP, AHCYand ITCH genes. The individual copies are arranged in tandem in a head to tail orientation." (Henkel et al., 2019) 200922: moved the g. entry to here (g.63,226,824-63,381,501 (3 copies)) until it can be standardised 2009 20016133
1197 OMIA:000201-9925 goat Grisons Striped (Goat) Toggenburg (Goat) Swiss markings ASIP A^sm repeat variation Naturally occurring variant no ARS1.2 13 "8 tandem copies of a 13,433 bp sequence from the 5’-flanking region of ASIP" (Henkel et al., 2019) 200922: moved g. entry to here (g.63,129,198-63,142,631 (8 copies)) until it can be fixed 2019 31841508
1198 OMIA:000201-9925 goat Chamois Coloured (Goat) St Gallen Booted Goat (Goat) Badgerface ASIP A^b repeat variation Naturally occurring variant no ARS1.2 13 "a five-fold amplification of45,680 bp located ~61 kb downstream ofthe Asm amplification" (Henkel et al., 2019) 200922: move the g. entry to here (g.63,158,171-63,203,851 (5 copies)), until it can be fixed 2019 31841508
149 OMIA:000201-9793 ass (donkey) Âne de Provence, France (Ass) Âne normand, France (Ass) Dezhou, China (Ass) Miniature, United States of America (Ass) No light points ASIP NLP missense Naturally occurring variant no ASM1607732v2 15 NC_052191.1:g.25406489T>C XM_044748287.1:c.349T>C XP_044604222.1:p.(C117R) The Dezhou reference genome ASM1607732v2 represents the 'no light points' variant: NC_052191.1:g.25406489C

2015 25887951
1382 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
1386 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
1385 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
1380 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
1383 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
1384 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
1381 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
30 OMIA:000201-9615 dog German Shepherd Dog (Dog) Recessive black ASIP missense Naturally occurring variant no CanFam3.1 24 NC_006606.3:g.23393552C>T NM_001007263.1:c.286C>T NP_001007264.1:p.(R96C) rs851336386 2004 15520882 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
509 OMIA:000201-9796 horse American Trotter (Horse) Arab (Horse) Belgian Draft (Horse) Clydesdale (Horse) Freiberger (Horse) Icelandic Horse (Horse) Morgan (Horse) Quarter Horse (Horse) Shetland Pony (Horse) Thoroughbred (Horse) Warmblood (Horse) Welsh Pony (Horse) Coat colour, recessive black ASIP a deletion, small (<=20) Naturally occurring variant no EquCab3.0 22 NC_009165.3:g.26067463_26067473del NM_001164017.1:c.187_197del published as g.2174_2184del and c.191_201del - coordinates in the table updated to a recent reference genome. rs3091770233 2001 11353392 Coordinates in EquCab3.0 kindly provided by Haley Rutstein, working under the guidance of Professor Ernie Bailey. Breed information based on PMID: 38600096
1452 OMIA:002549-9685 domestic cat Bengal (Cat) Coat colour and pattern, charcoal ASIP A^Pben 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 OMIA:002549-9685 domestic cat Bengal (Cat) Coat colour and pattern, charcoal ASIP A^Pben 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 OMIA:002549-9685 domestic cat Bengal (Cat) Coat colour and pattern, charcoal ASIP A^Pben missense Naturally occurring variant no Felis_catus_9.0 A3 g.25086548A>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 OMIA:000201-9685 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]" rs5334475125 2003 12620197 The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770
1451 OMIA:002549-9685 domestic cat Bengal (Cat) Coat colour and pattern, charcoal ASIP A^Pben 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
1734 OMIA:000201-30532 fallow deer Coat colour, black ASIP splicing Naturally occurring variant unknown GCF_033118175.1 23 NC_083703.1:g.63827550G>A XM_061127099.1:c.225+1G>A 2024 39202415
1735 OMIA:000201-30532 fallow deer Coat colour, black ASIP duplication Naturally occurring variant no GCF_033118175.1 23 NC_083703.1:g.63830157_63830161dup 2024 39202415
1708 OMIA:000201-9337 common brushtail possum Coat colour, non-agouti (black) ASIP missense Naturally occurring variant unknown mTriVul1.pri 3 NC_050575.1:g.100483705C>T XM_036748710.1:c.343C>T XP_036604605.1:p.(R115C) 2024 39086822
714 OMIA:000201-9940 sheep Merino (Sheep) White fleece ASIP Wt insertion, gross (>20) Naturally occurring variant no Oar_rambouillet_v1.0 13 a 190kb tandem duplication encompassing the ASIP gene, the neighbouring AHCY gene and the promoter for a third gene ITCH 2008 18493018
1111 OMIA:000201-9940 sheep Recessive black ASIP a deletion, small (<=20) Naturally occurring variant no Oar_rambouillet_v1.0 13 g.66475132_66475136del published as g.100_105del / D5 and predicted to result in a frame shift followed by a premature stop codon 63 amino acids downstream of the start site 2002 12354151 The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.
1112 OMIA:000201-9940 sheep Recessive black ASIP a missense Naturally occurring variant no Oar_rambouillet_v1.0 13 NC_040264.1:g.66474980T>A NM_001134303.1:c.376T>A NP_001127775.1:p.(C126S) Published as g.5172T>A (Norris et al. 2008). cDNA and protein positions based on NM_001134303.1 and NP_001127775.1 2008 18493018 The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.
1134 OMIA:000201-9986 rabbit Black and tan ASIP a^t deletion, gross (>20) Naturally occurring variant no OryCun2.0 4 g.5455408_5466123del Letko et al. (2020): NC_013672.1:g.5,455,408_5,466,123del 2020 31729778
567 OMIA:000201-9986 rabbit New Zealand White (Rabbit) Black (non-agouti) ASIP a insertion, small (<=20) Naturally occurring variant no UM_NZW_1.0 4 NC_067377.1:g.13094745_13094746insT NM_001122939.1:c.5_6insA NP_001116411.1:p.(N2Kfs21*) Reported by Letko et al. (2020): NM_001122939.1:c.5_6insA, the OryCun2.0 reference genome represents the nonagouti allele.  2010 20004240
667 OMIA:000201-9627 red fox Dark Standard Silver ASIP deletion, gross (>20) Naturally occurring variant no VulVul2.2 NW_020356514.1 A 16.5-kb deletion resulting in "a 166-nt deletion in the Standard Silver fox cDNA, spanning the second exon ... .This deletion removes the start codon and entire signal peptide" 1997 9054949
1309 OMIA:002325-9685 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
111 OMIA:002099-9615 dog German Shepherd Dog (Dog) Ichthyosis, ASPRV1-related ASPRV1 missense Naturally occurring variant yes CanFam3.1 10 NC_006592.3:g.68587027A>G XM_014117456.1:c.1052T>C XP_013972931.1:p.(L351P) XM_014117456.1; XP_013972931.1 2017 28249031 Genomic position in CanFam3.1 provided by Robert Kuhn and Mateo Etcheveste.
1673 OMIA:002099-9615 dog Pembroke Welsh Corgi (Dog) Ichthyosis, non-epidermolytic ASPRV1 deletion, small (<=20) Naturally occurring variant yes UU_Cfam_GSD_1.0 10 NC_049231.1:g.69888722_69888723del XM_038551592.1:c.594_595del XP_038407520.1:p.(L199Rfs*342) 2024 38549226
289 OMIA:000194-9913 taurine cattle Blanco Orejinegro, Colombia (Cattle) Brown Swiss (Cattle) Holstein Friesian (Cattle) Citrullinaemia ASS1 nonsense (stop-gain) Naturally occurring variant yes ARS-UCD1.3 11 NC_037338.1:g.100781668C>T NM_173892.4:c.256C>T NP_776317.1:p.(R86*) Variant initially identified in Holstein Friesian and later reported in additional breeds: PMID:30014197, PMID:34779908. rs5334475062 1989 2813370 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
65 OMIA:001471-9615 dog Poodle, Standard (Dog) Neonatal encephalopathy with seizures ATF2 missense Naturally occurring variant yes CanFam3.1 36 NC_006618.3:g.19078954A>C XM_005640334.3:c.152T>G XP_005640391.1:p.(M51R) 2008 18074159 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
94 OMIA:001954-9615 dog Lagotto Romagnolo (Dog) Neurodegenerative vacuolar storage disease ATG4D missense Naturally occurring variant yes CanFam3.1 20 NC_006602.3:g.50618958C>T XM_542069.6:c.1288G>A XP_542069.1:p.(A430T) 2015 25875846 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1067 OMIA:001552-9615 dog Australian Cattle Dog (Dog) Neuronal ceroid lipofuscinosis, 12 ATP13A2 missense Naturally occurring variant yes CanFam3.1 2 NC_006584.3:g.81208162C>T XM_005617949.3:c.1118C>T XP_005618006.1:p.(T373I) XM_005617949.3; XP_005618006.1 2019 30956123
400 OMIA:001552-9615 dog Tibetan Terrier (Dog) Neuronal ceroid lipofuscinosis, 12 ATP13A2 splicing Naturally occurring variant yes CanFam3.1 2 NC_006584.3:g.81210367del XM_005617949.3:c.1623del XM_005617949.3; XP_005618006.1; variant was published as c.1623delG p.P541fs*597 by Farias et al. (2011); Wöhlke et al. (2011) provided an alternate transcript position c.1620delG and proposed that the variant causes exon 16 skipping in NCL-affected Tibetan terriers. The sequence information provided by Wöhlke et al. (2011) corresponds to XM_005617949.3:c.1623del 2011 21362476 22022275
734 OMIA:002110-9615 dog Belgian Shepherd Dog (Dog) Ataxia, cerebellar, ATP1B2-related ATP1B2 insertion, gross (>20) Naturally occurring variant yes CanFam3.1 5 g.32551064_32551065ins[LT796559.1:g.50_276] c.130_131ins[LT796559.1:g.50_276] XM_546597.5; "a 227 bp SINE insertion into exon 2 of the ATP1B2 gene" 2017 28620085
188 OMIA:001450-9913 OMIA:001464-9913 taurine cattle Belgian Blue (Cattle) Maas-Rijn-Ijssel (Cattle) Congenital muscular dystonia 1 ATP2A1 missense Naturally occurring variant yes ARS-UCD1.3 25 NC_037352.1:g.25933247G>A NM_001075767.1:c.1675C>T NP_001069235.1:p.(R559C) Variant is reported to cause congenital muscular dystonia 1 in Belgian Blue cattle (OMIA 001450-9913) and congenital pseudomyotonia in a Dutch improved red and white cross-bred calf (OMIA:001464_9913). rs5334475104 2008 18344998 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170). 
219 OMIA:001464-9913 taurine cattle Romagnola (Cattle) Pseudomyotonia, congenital ATP2A1 missense Naturally occurring variant yes ARS-UCD1.3 25 NC_037352.1:g.25939141C>A NM_001075767.1:c.857G>T NP_001069235.1:p.(G286V) This variant was identified as part of a haplotype with the G211V variant in Romagnola cattle. Akyürek et al. (2022; PMID: 36293223) suggest that the G286V variant is likely to be benign and that the G211V is likely to be causal. rs3423529256 2012 23046865 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
218 OMIA:001464-9913 taurine cattle Romagnola (Cattle) Pseudomyotonia, congenital ATP2A1 missense Naturally occurring variant yes ARS-UCD1.3 25 NC_037352.1:g.25939366C>A NM_001075767.1:c.632G>T NP_001069235.1:p.(G211V) rs5334474971 2012 23046865 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
205 OMIA:001464-9913 taurine cattle Chianina (Cattle) Marchigiana (Cattle) Romagnola (Cattle) Pseudomyotonia, congenital ATP2A1 missense Naturally occurring variant yes ARS-UCD1.3 25 NC_037352.1:g.25940510C>T NM_001075767.1:c.491G>A NP_001069235.1:p.(R164H) Variant initially identified in Chianina cattle and later reported in additional breeds: PMID: 35717834 rs3423529241 2008 18786632 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
1192 OMIA:002265-9615 dog Irish Terrier (Dog) Darier disease ATP2A2 insertion, gross (>20) Naturally occurring variant yes CanFam3.1 26 g.8200944_8200945insN[(205)] c.2098-3_2098-2insN[(205)] p.(T700Vfs*6) NM_001003214.1; NP_001003214.1; 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
1533 OMIA:002265-9615 dog Shih Tzu (Dog) Darier disease ATP2A2 missense Naturally occurring variant yes UU_Cfam_GSD_1.0 26 NC_049247.1:g.8434781A>C NM_001003214.1:c.2425A>C NP_001003214.1:p.(N809H) NM_001003214.1; NP_001003214.1 2023 36883421
107 OMIA:002608-9615 dog Labrador Retriever (Dog) Modifier of copper toxicosis ATP7A missense Naturally occurring variant yes CanFam3.1 X NC_006621.3:g.60279238C>T XM_005641519.2:c.980C>T XP_005641576.1:p.(T327I) rs852523339 2016 26747866 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. The phenotype was renamed from 'Menkes disease' to 'Modifier of copper toxicosis' based on feedback from Tom Nagels [10/01/2023].
1347 OMIA:001071-9685 domestic cat Wilson disease ATP7B missense Naturally occurring variant yes A1 p.(P550L) 2020 31687873
106 OMIA:001071-9615 dog Labrador Retriever (Dog) Wilson disease ATP7B missense Naturally occurring variant yes CanFam3.1 22 NC_006604.3:g.225112G>A XM_005633828.3:c.4151G>A XP_005633885.1:p.(R1384Q) XM_005633831.3; XP_005633888.1; variant published as c.4358G>A / p.(R1453Q) and the variant coordinates in this table have been changed to reflect recent transcript IDs; conflicting evidence in regard to causality of this variant are reported in the literature - see https://omia.org/OMIA001071/9615/ for details rs851958524 2016 26747866 30 Dec 2020: correct genomic location provided by Angelica K Kallenberg
1590 OMIA:001071-9685 domestic cat Domestic Longhair Wilson disease ATP7B missense Naturally occurring variant yes Felis_catus_9.0 A1 g.19609511T>A c.3670T>A p.(W1224R) XM_023251165.1; XP_023106933.1; variant heterozygous in a single affected cat 2023 37427085
1136 OMIA:001071-9685 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.
1076 OMIA:001645-10036 golden hamster Black tremor Atrn insertion, gross (>20) Naturally occurring variant yes Kuramoto et al. (2002): "an approximately 10-kb DNA fragment, which had 557-bp direct repeats in both ends and was flanked by the identical 6-bp target duplication sequences, [that] was inserted into exon 24" 2002 11773967
348 OMIA:000487-9796 horse Belgian Draft (Horse) Friesian (Horse) Warmblood (Horse) Hydrocephalus B3GALNT2 nonsense (stop-gain) Naturally occurring variant yes EquCab3.0 1 NC_009144.3:g.76887901C>T XM_001491545.6:c.1423C>T XP_001491595.2:p.(Q475*) XM_001491545; XP_001491595; Ducro et al. (2015): "The nomenclature for the mutation is c.1423C>T [GenBank:XM_001491545] corresponding to p.Gln475* [GenBank:XP_001491595]". As at 25 April 2019, Ensembl's Variant Effect Predictor (VEP) gives the EquCab3 c. and p. coordinates as having not changed from the EquCab2 coordinates reported by Ducro et al. (2015). The Ensembl ref is ENSECAT00000049072 rs3429464524 2015 26452345 c. and p. variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. EquCab3 g. coordinate provided by Meredith O’Connell, working under the supervision of Professor Ernie Bailey, 24 April 2019. Breed information updated based on PMID: 38600096
439 OMIA:001885-9940 sheep Lacaune (Sheep) Fecundity, Lacaune, FecL B4GALNT2 regulatory Naturally occurring variant no Oar_v3.1 11 g.36938224T>A c.766+2831A>T ENSOART00000006875.1:c.766+2831A>T ENSOART00000006877.1:c.781+2831A>T rs588626728 2013 24086150
440 OMIA:001885-9940 sheep Lacaune (Sheep) Fecundity, Lacaune, FecL B4GALNT2 regulatory Naturally occurring variant no Oar_v3.1 11 g.37034573A>G 2013 24086150
421 OMIA:002068-9796 horse Friesian (Horse) Dwarfism, Friesian B4GALT7 splicing Naturally occurring variant yes EquCab3.0 14 NC_009157.3:g.3772591C>T XM_023617086.1:c.50G>A XP_023472854.1:p.(R17K) rs3447120064 2016 27793082 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. FN thanks Elizabeth Huffman, who updated the g. coordinates to EquCab3, working under the supervision of Professor Ernie Bailey; 23 April 2020.
1676 OMIA:002837-9646 giant panda Coat colour, brown white BACE2 deletion, gross (>20) Naturally occurring variant no 1 c.176_200del Published as c.176_200delTCGCCCTGGAGCCCGCCGGCGGCGC; g.4545815_4545839del 2024 38437540
1391 OMIA:002484-9615 dog Shetland Sheepdog (Dog) Bardet-Biedl syndrome 2 BBS2 missense Naturally occurring variant yes CanFam3.1 2 g.59693737G>C c.1222G>C p.(A408P) ENSCAFT00000014523.5; ENSCAFP00000013435.4 2021 34828377
356 OMIA:002045-9615 dog Puli (Dog) 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
1131 OMIA:002216-9544 Rhesus monkey Bardet-Biedl syndrome 7 BBS7 deletion, small (<=20) Naturally occurring variant yes Mmul_8.0.1 c.160delG p.(A54fs) 2019 31589838
1049 OMIA:002178-9823 pig Landrace (Pig) Large White (Pig) Yorkshire (Pig) Abortion, BBS9 and BMPER-related BBS9 deletion, gross (>20) Naturally occurring variant yes Sscrofa11.1 18 NC_010460.4:g.39817373_40029300del Derks et al. (2018): "a large deletion in complete LD with the SSC18 haplotype of approximately 212kb (position 39,817,373 to 40,029,300), spanning a part of the BBS9 gene ... [and reducing] expression of the downstream BMPER gene". Initially reported in Large White and later reported in other breeds (PMID:39327728).   2018 30231021
635 OMIA:001592-9615 dog Cavalier King Charles Spaniel (Dog) Episodic falling BCAN deletion, gross (>20) Naturally occurring variant yes CanFam3.1 7 g.41325010_41340731delinsAAGGCC c.-13991_466+85delinsGGCCTT XM_005622698.1; a 15.7kb deletion in the BCAN gene removing the first 3 exons 2012 21821125
298 OMIA:000627-9913 taurine cattle Polled Hereford (Cattle) Maple syrup urine disease BCKDHA nonsense (stop-gain) Naturally occurring variant yes ARS-UCD1.2 18 g.50551011C>T c.148C>T p.(Q50*) cDNA position based on ENSBTAT00000021342.6 rs5334475064 1990 2303405
200 OMIA:000627-9913 taurine cattle Shorthorn (Cattle) Maple syrup urine disease BCKDHA missense Naturally occurring variant yes ARS-UCD1.2 18 g.50560242C>T c.1380C>T p.(P372L) rs3423447991 1999 10425233 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
1333 OMIA:001079-9940 sheep spælsau (Sheep) yellow fat BCO2 insertion, gross (>20) Naturally occurring variant yes 15 "insertion of a 7.9 kb endogenous Jaagsiekte Sheep Retrovirus (enJSRV) sequence in the first intron of the BCO2 gene" (Kent et al. 2021) 2021 34193038
549 OMIA:001079-9986 rabbit Flemish Giant (Rabbit) New Zealand White (Rabbit) Yellow fat BCO2 deletion, small (<=20) Naturally occurring variant yes 1 delAAT 2015 26002694
1375 OMIA:002466-48883 OMIA:002466-48882 OMIA:002466-87173 OMIA:002466-48884 OMIA:002466-48885 OMIA:002466-48886 OMIA:002466-1553461 medium ground-finch Beak colour, yellow BCO2 synonymous Naturally occurring variant no 24 g.6166878G>A p.(V?V) synonymous change 32 bp into exon 4 2021 34687609
305 OMIA:001079-9913 taurine cattle Holstein Friesian (Cattle) Yellow fat BCO2 nonsense (stop-gain) Naturally occurring variant yes ARS-UCD1.3 15 NC_037342.1:g.22552375G>A NM_001101987.2:c.306G>A NP_001095457.2:p.(W102*) UMD3.1 position is g.22877552G>A; cDNA position is based on XM_024975217.1 rs109226280 2009 19398771 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446. The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.
1559 OMIA:002466-9135 common canary Beak and leg colour, red BCO2 missense Naturally occurring variant no NW_022042652.1 g.75258192G>A p.R413H 2020 31930402 XP_009096268.1, genomic position as reported by Bovo et al. (2023) PMID:37194440
320 OMIA:001079-9940 sheep spælsau (Sheep) Yellow fat BCO2 nonsense (stop-gain) Naturally occurring variant yes Oar_rambouillet_v1.0 15 NC_040266.1:g.25024133C>T XM_012095240.3:c.196C>T XP_011950630.2:p.(Q66*) Oar_v3.1 position is g.21947481C>T rs1090867485 2010 20122251 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
737 OMIA:001554-9615 dog Finnish Lapphund (Dog) Lapponian Herder (Dog) Multifocal retinopathy 3 BEST1 cmr3 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 18 g.54470590del c.1388del p.(P463Hfs) NM_001097545.1; NP_001091014.1; published as c.1388delC; variant initially identified in Lapponian Herder and later reported in additional breeds: PMID:27525650 rs397509969 2010 21197113 Variant information and allele abbreviation gleaned from or confirmed by Donner et al. (2016) PLoS One 11:e0161005 and genomic position in CanFam3.1 and EVA ID provided by Mateo Etcheveste and Robert Kuhn.
59 OMIA:001553-9615 dog Coton de Tulear (Dog) Multifocal retinopathy 2 BEST1 cmr2 missense Naturally occurring variant yes CanFam3.1 18 NC_006600.3:g.54476143C>T NM_001097545.1:c.482G>A NP_001091014.1:p.(G161D) NM_001097545.1; NP_001091014.1 2007 17460247 Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn.
275 OMIA:001444-9615 dog Boerboel (Dog) Bull Mastiff (Dog) English Mastiff (Dog) Great Pyrenees (Dog) Multifocal retinopathy 1 BEST1 cmr1 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 18 NC_006600.3:g.54478586G>A NM_001097545.1:c.73C>T NP_001091014.1:p.(R25*) NM_001097545.1; NP_001091014.1 2007 17460247 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
398 OMIA:001660-9615 dog Great Dane (Dog) Inherited myopathy of Great Danes BIN1 splicing Naturally occurring variant yes CanFam3.1 19 NC_006601.3:g.23522400A>G XM_014121413.2:c.786-2A>G XP_013976888.1:p.(R262_K263insASASRPFPQ) XM_014121413.2; XP_013976888.1; published as IVS10-2A>G, updated in this table to HGVS nomenclature 2013 23754947
1770 OMIA:002917-9615 dog Mixed Breed (Dog) Biliverdinuria BLVRA deletion, gross (>20) Naturally occurring variant yes UU_Cfam_GSD_1.0 18 NC_049239.1:g.6532022_6551313del XP_038418561.1:p.[K117_K296del] 2024 39766828
1771 OMIA:002917-9615 dog Mixed Breed (Dog) Biliverdinuria BLVRA deletion, gross (>20) Naturally occurring variant yes UU_Cfam_GSD_1.0 18 NC_049239.1:g.6543863_6545908 XP_038418561.1:p.[A154fs] 2024 39766828
755 OMIA:002306-9940 sheep Tunisian Barbary (Sheep) Fecundity, Barbarine BMP15 FecX(Bar) complex rearrangement Naturally occurring variant no Oar_rambouillet_v1.0 X g.[56600937insG;56600945_56600947del;56600948C>A] c.[301G>T;302_304delCTA;310insC] p.(A101Cfs*113) "a composite polymorphism associating a single nucleotide substitution (c.301G > T), a 3 bp deletion (c.302_304delCTA) and a C insertion (c.310insC) in the ovine BMP15 cDNA leading to a frame shift at protein position 101" - cDNA positions based on NM_001114767 2017 28506298
244 OMIA:002306-9940 sheep Belclare (Sheep) Cambridge (Sheep) Fecundity, Belclare BMP15 FecX(B) missense Naturally occurring variant no Oar_rambouillet_v1.0 X NC_040278.1:g.56594843C>A NM_001114767.1:c.1100G>T NP_001108239.1:p.(S367I) 2004 14627550 The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.
238 OMIA:002306-9940 sheep Olkuska (Sheep) Fecundity, Olkuska BMP15 FecX(O) missense Naturally occurring variant no Oar_rambouillet_v1.0 X NC_040278.1:g.56594934T>G NM_001114767.1:c.1009A>C NP_001108239.1:p.(N337H) Protein and cDNA positions based on NP_001108239.1 and NM_001114767.1, respectively. 2013 23637641 The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.
236 OMIA:002306-9940 sheep Lacaune (Sheep) Fecundity, Lacaune BMP15 FecX(L) missense Naturally occurring variant no Oar_rambouillet_v1.0 X NC_040278.1:g.56594981C>T NM_001114767.1:c.962G>A NP_001108239.1:p.(C321Y) cDNA position based on NP_001108239.1 2007 17038554 The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.
237 OMIA:002306-9940 sheep Grivette (Sheep) Fecundity, Grivette BMP15 FecX(Gr) missense Naturally occurring variant no Oar_rambouillet_v1.0 X NC_040278.1:g.56594993G>A NM_001114767.1:c.950C>T NP_001108239.1:p.(T317I) protein and cDNA positions based on NP_001108239.1 and NM_001114767.1, respectively 2013 23637641 The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.
235 OMIA:002306-9940 sheep Romney Marsh (Sheep) Fecundity, Inverdale BMP15 FecX(I) missense Naturally occurring variant no Oar_rambouillet_v1.0 X NC_040278.1:g.56595047A>T NM_001114767.1:c.896T>A NP_001108239.1:p.(V299D) protein and cDNA positions based on NP_001108239.1 and NM_001114767.1, respectively rs398521635 2000 10888873 The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.
335 OMIA:002306-9940 sheep Romney Marsh (Sheep) Fecundity, Hanna BMP15 FecX(H) nonsense (stop-gain) Naturally occurring variant no Oar_rambouillet_v1.0 X NC_040278.1:g.56595072G>A NM_001114767.1:c.871C>T NP_001108239.1:p.(Q291*) previously listed as c.1184C>T; protein and cDNA position based on NP_001108239.1 and NM_001114767.1, respectively rs413916687 2000 10888873
334 OMIA:002306-9940 sheep Cambridge (Sheep) Fecundity, Galway BMP15 FecX(G) nonsense (stop-gain) Naturally occurring variant no Oar_rambouillet_v1.0 X NC_040278.1:g.56595225G>A NM_001114767.1:c.718C>T NP_001108239.1:p.(Q239*) rs425019156 2004 14627550
521 OMIA:002306-9940 sheep Rasa Aragonesa, Spain (Sheep) Fecundity, Rasa Aragonesa BMP15 FecX(R) deletion, small (<=20) Naturally occurring variant no Oar_rambouillet_v1.0 X NC_040278.1:g.56595467_56595483del NM_001114767.1:c.460_476del NP_001108239.1:p.(W154Nfs*55) published as c.525_541delTGGGTCCAGAAAAGCCC based on AF236079, protein and cDNA position in table based on NP_001108239.1 and NM_001114767.1, respectively 2008 18355397 The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.
1345 OMIA:002306-9940 sheep Blanc Du Massif Central (Sheep) Noir du Velay, France (Sheep) Fecundity BMP15 FecX(N) regulatory Naturally occurring variant unknown Oar_v3.1 X g.50977717T>A 2020 32636872
1341 OMIA:002306-9940 sheep Rasa Aragonesa, Spain (Sheep) Fecundity BMP15 FecX(RA) missense Naturally occurring variant unknown Oar_v3.1 X NC_019484.1:g.50970948C>T NM_001114767.1:c.1172C>T NP_001108239.1:p.(T400I) protein position based on ENSOART00000010201 2020 31927415
1281 OMIA:002306-9823 pig German Landrace (Pig) Infertility and increased litter size BMP15 nonsense (stop-gain) Naturally occurring variant yes Sscrofa11.1 X NC_010461.5:g.44618787C>T NM_001005155.2:c.634C>T NP_001005155.2:p.(R212*) 2021 33413103
241 OMIA:000383-9940 sheep Booroola (Sheep) Small Tailed Han, China (Sheep) Fecundity, Booroola BMPR1B FecB(B) missense Naturally occurring variant no Oar_rambouillet_v1.0 6 g.34010859T>C c.914A>G p.(Q305R) Position on Oar_v3.1: g.29382188T>C rs418841713 2001 11259271 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool, the genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.
1254 OMIA:000576-9823 pig Yorkshire (Pig) Knobbed acrosome defect BOLL deletion, gross (>20) Naturally occurring variant yes Sscrofa11.1 15 NC_010457.5:g.101549770_101604750del 2020 32975846
1766 OMIA:002913-9913 taurine cattle Holstein Friesian (Cattle) Cardiac malformation, BRI3BP-related BRI3BP missense Naturally occurring variant yes ARS-UCD1.3 17 NC_037344.1:g.50813902C>T NM_001099087.1:c.478G>A NP_001092557.1:p.(V160I) likely de novo variant 2025 39593234
851 OMIA:002132-9615 dog German Shorthaired Pointer (Dog) Abortion (embryonic lethality), BTBD17-related BTBD17 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 9 g.6048201_6048202insG c.85+206_85+207insG ROS_Cfam_1.0:g.6720627_6720628insG ENSCAFT00845033049.1:c.85+206_85+207insG; the homozygous variant genotype is associated with embryonic lethality in German Shorthaired Pointer, but may not be causal as the variant was observed at a high frequency in both heterozygous and homozygous form across normal dogs from multiple breeds (PMID:37582787) rs852549625 2017 29053721
981 OMIA:001991-9913 taurine cattle Nordic Red (Cattle) Stillbirth BTBD9 deletion, gross (>20) Naturally occurring variant yes 23 "∼525 KB deletion on Chr23:12,291,761-12,817,087 (overlapping BTBD9, GLO1 and DNAH8)" 2016 27091210
325 OMIA:001622-9031 chicken Resistance to avian sarcoma and leukosis viruses, subgroup C BTN1A1 nonsense (stop-gain) Naturally occurring variant no GRCg6a 28 g.903289G>T c.165C>A p.(C55*) rs735807319 2005 16051833 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
455 OMIA:000155-9615 dog Brittany Spaniel (Dog) C3 deficiency C3 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 20 g.53573746del c.2136del p.(F712Lfs*11) XM_038428862.1; XP_038284790.1 "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
1737 OMIA:002886-9823 pig Large White (Pig) Timothy syndrome 1 CACNA1C missense Genome-editing (CRISPR-Cas9) unknown Sscrofa11.1 5 NC_010447.5:g.69316114G>A XM_021092981.1:c.1216G>A XP_020948640.1:p.(G406R) 2023 38665938
1660 OMIA:002819-9913 taurine cattle Holstein Friesian (Cattle) Muscle weakness CACNA1S missense Naturally occurring variant yes ARS-UCD1.3 16 NC_037343.1:g.79613592C>T XM_024976574.1:c.3853G>A XP_024832342.1:p.G1285S ENSBTAT00000065901.3; ENSBTAP00000054797.3 rs3423414874 2024 38246543
1087 OMIA:002201-9913 taurine cattle Normande (Cattle) Abortion due to haplotype NH7 CAD missense Naturally occurring variant yes ARS-UCD1.2 11 g.72409143T>C p.(Y452C) published as CAD g.72399397T>C; p.Tyr452Cys rs5334475092 2019 31056337 The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.
1490 OMIA:002573-151761 yellow-crowned parrot Lewy body-like disease CADPS2 missense Naturally occurring variant yes c.1675G>C p.(V559L) 2022 36086934
105 OMIA:001820-9615 dog Parson Russell Terrier (Dog) Ataxia, spinocerebellar CAPN1 missense Naturally occurring variant yes CanFam3.1 18 NC_006600.3:g.52009339C>T XM_540866.5:c.344G>A XP_540866.2:p.(C115Y) XM_540866.5; XP_540866.2 2013 23741357 Genomic coordinates in CanFam3.1 provided by Robert Kuhn
1692 OMIA:002854-9615 dog Miniature Schnauzer (Dog) Immunodeficiency, susceptibility to Mycobacterium avium complex CARD9 deletion, small (<=20) yes CanFam3.1 9 NC_006591.3:g.49115079_49115081del XM_844178.5:c.493_495del XP_849271.2: p.(K165del) 2024 38710903
1674 OMIA:002835-9615 dog Cavalier King Charles Spaniel (Dog) Immunodeficiency, CARMIL2-related CARMIL2 missense Naturally occurring variant yes CanFam3.1 5 NC_006587.3:g.81801920G>A XM_022419456.1:c.871C>T XP_022275164.1:p.(R291*) NC_006587.3; XM_022419456.1; XP_022275164.1 rs3330142729 2024 38535207
49 OMIA:001138-9615 dog American Foxhound (Dog) Beagle (Dog) English Foxhound (Dog) Harrier (Dog) Poodle, Miniature (Dog) Treeing Walker Coonhound (Dog) Hypocatalasia CAT missense Naturally occurring variant yes CanFam3.1 18 NC_006600.3:g.33397548C>T NM_001002984.1:c.979G>A NP_001002984.1:p.(A327T) Variant initially identified in Beagle and later reported in additional breeds: PMID:29708978, PMID27525650 2000 11137458 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
516 OMIA:001416-9612 gray wolf Coat colour, dominant black CBD103 K^B deletion, small (<=20) Naturally occurring variant no 3bp deletion of the CBD103 gene 2009 19197024
520 OMIA:001416-9614 coyote Coat colour, dominant black CBD103 deletion, small (<=20) Naturally occurring variant no 3bp deletion of the CBD103 gene 2009 19197024
458 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 2007 17947548 Genomic location provided by Professor Claire Wade August 2018. Allele designations taken from Ollivier et al. (2013)
1032 OMIA:002167-9913 taurine cattle Nordic Red (Cattle) Asthenospermia CCDC189 splicing Naturally occurring variant yes ARS-UCD1.2 25 g.26880841C>T Touru et al. (2019): "a variant disrupting a canonical 5’ splice donor site (GCA_000003055.3:Chr25:g.27138357C>T) in CCDC189 (transcript - ID:ENSBTAT00000045037) encoding the coiled-coil domain containing protein 189." rs5334474909 2019 30975085
266 OMIA:001540-9615 dog Old English Sheepdog (Dog) Ciliary dyskinesia, primary CCDC39 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 34 NC_006616.3:g.13952270G>A XM_545213.6:c.286C>T XP_545213.3:p.(R96*) 2011 21131972 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1403 OMIA:002342-9940 sheep Blanc Du Massif Central (Sheep) Lacaune (Sheep) Ciliary dyskinesia, primary (respiratory failure) CCDC65 LDHH6 nonsense (stop-gain) Naturally occurring variant yes Oar_rambouillet_v1.0 3 NC_040254.1:g.147207999C>A XM_004006389.4:c.521G>T XP_004006438.1:p.(E111*) XM_004006389.4; XP_004006438.1; published as NC_040254.1:g.147,207,999C>A rs1085624756 2021 35052387
1274 OMIA:001521-9615 dog Portuguese Water Dog (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
574 OMIA:001521-9615 dog Schapendoes (Dog) Generalized PRA CCDC66 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 20 g.33745452_33745453insT c.521_522insA p.(N174Kfs*2) NM_001168012.1; NP_001161484.1; genomic coordinates in accordance with HGVS 3'-rule 2010 19777273 Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn.
538 OMIA:001299-9031 chicken Resistance to avian sarcoma and leukosis viruses, subgroup A CD320 deletion, small (<=20) Naturally occurring variant no 28 c.502_511delCGCTCACCCC 2015 25873518
539 OMIA:001299-9031 chicken Resistance to avian sarcoma and leukosis viruses, subgroup A CD320 deletion, small (<=20) Naturally occurring variant no 28 c.502_516delCGCTCACCCCGCCCC 2015 25873518
395 OMIA:001299-9031 chicken Resistance to avian sarcoma and leukosis viruses, subgroup A CD320 splicing Naturally occurring variant no 28 c.506-515del10 2012 22171251
396 OMIA:001299-9031 chicken Resistance to avian sarcoma and leukosis viruses, subgroup A CD320 splicing Naturally occurring variant no 28 c.507-511del5 2012 22171251
603 OMIA:001299-9031 chicken Resistance to avian sarcoma and leukosis viruses, subgroup A CD320 tva^r2 insertion, small (<=20) Naturally occurring variant no GRCg6a 28 g.985659_985660insCTCG c.48_49insCTCG p.(P18Afs) NM_001044645.1; NP_001038110.1 2004 15564460 Genomic position in GRCg6a provided by Joshua Khamis.
12 OMIA:001299-9031 chicken Resistance to avian sarcoma and leukosis viruses, subgroup A CD320 tva^r missense Naturally occurring variant no GRCg6a 28 g.985980C>G c.185C>G p.(C62W) NM_001044645.1; NP_001038110.1; published as c.120C>G and p.(C40W); coordinates in the table have been updated to a recent reference genome and / or transcript 2004 15564460 Genomic position in GRCg6a provided by Joshua Khamis.
1340 OMIA:002386-9544 Rhesus monkey OKT4 epitope deficiency CD4 missense Naturally occurring variant unknown 11 c.C793T p.(A265W) 2021 33893743
1528 OMIA:002626-9913 taurine cattle Japanese Black, Japan (Cattle) Haplotype with homozygous deficiency JBH17, CDC45-related CDC45 splicing Naturally occurring variant yes UMD_3.1.1 17 g.74743512G>T located in a splicing donor site at a distance of 5 bp, affecting pre-mRNA splicing 2021 33758295
1496 OMIA:002584-9615 dog Beauceron (Dog) Deafness, CDH23-related CDH23 missense Naturally occurring variant yes CanFam3.1 4 g:22340631C>T c.700C>T p.(P234S) ON462053; XM_022417544.1; XP_022273252.1 2023 36308003 The UU_Cfam_GSD_1.0 genomic variant coordinate is: g.Chr4:23074925C>T
3 OMIA:000102-9031 chicken Sex-linked extreme dilution CDKN2A B0 complex rearrangement Naturally occurring variant no Z The B0 allele is characterised by two non-coding variants: "The first, SNP1, is within the CDKN2A (ARF) promoter region, 265 bp upstream of the transcription start site (according to GenBank AY138245), and the second, SNP2, is located at nucleotide position 385 bp in CDKN2A intron 1" 2010 20374521
5 OMIA:000102-9031 chicken Sex-linked dilution CDKN2A B2 missense Naturally occurring variant no GRCg6a Z g.78856557G>A c.28C>T p.(R10C) rs1059941965 2010 20374521 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
4 OMIA:000102-9031 chicken Sex-linked barring CDKN2A B1 missense Naturally occurring variant no GRCg6a Z g.78856559A>T c.26T>A p.(V9D) rs3388417177 2010 20374521 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
863 OMIA:001890-198806 ruff Male body size/courtship behaviour CENPN inversion Naturally occurring variant unknown "a 4.5Mb inversion on the ruff orthologue of chicken chromosomr GGA11 which, due to the well-known lethality of recombinants within an inversion, has created a supergene determining male breeding behaviour, body size and plumage colour" 2016 26569123
991 OMIA:001830-9913 taurine cattle Holstein (black and white) (Cattle) Abortion due to haplotype HH7 CENPU deletion, small (<=20) Naturally occurring variant yes ARS-UCD1.2 27 g.15123637_15123640del Hozé et al. (2019): "Considering that CENPU is transcribed in the antisense orientation, this mutation is predicted to result in deletion of the nucleotides located at position +3 to + 6 bp after the splicing donor site of exon 11. Using cross-species nucleotide alignment, we observed that the nucleotide at position +3 is entirely conserved among vertebrates . . . , which suggests that it plays an important role in regulation of CENPU splicing. If modified after exon 11, the abnormal splicing of CENPU could cause mRNA decay or the production of a protein modified after residue 319 out of 409 AA. Based on these factors, we assumed that mutation g.14168130_14168133delTACT on chromosome 27 alters the splicing of CENPU and is embryonic lethal." 2020 31733857
964 OMIA:001502-9913 taurine cattle Montbéliarde (Cattle) Caprine-like Generalized Hypoplasia Syndrome CEP250 nonsense (stop-gain) Naturally occurring variant yes ARS-UCD1.2 13 g.64710424C>T c.493C>T p.(Q165*) rs5334474991 2015 25902731 Coordinates obtained from and/or confirmed by EBI's VEP
384 OMIA:001244-9685 domestic cat Abyssinian (Cat) American Curl (Cat) American Shorthair (Cat) American Wirehair (Cat) Balinese (Cat) Bengal (Cat) Colorpoint Shorthair (Cat) Cornish Rex (Cat) Devon Rex (Cat) Donskoy (Cat) European Shorthair (Cat) Havana (Cat) Highlander (Cat) Maine Coon (Cat) Manx (Cat) Munchkin (Cat) Ocicat (Cat) Oriental Longhair (Cat) Oriental Shorthair (Cat) Peterbald (Cat) Pixiebob Longhair (Cat) Ragdoll (Cat) Scottish Fold (Cat) Siamese (Cat) Singapura (Cat) Somali (Cat) Sphynx (Cat) Tennessee Rex (Cat) Tonkinese (Cat) Retinal degeneration II CEP290 splicing Naturally occurring variant yes Felis_catus_9.0 B4 g.112522818A>C c.7584+9T>G XM_023256243.1; published as IVS50 + 9T>G. The cat sequenced to generate the Felis_catus_9.0 reference genome is homozygous for the likely causal variant. The genomic and cDNA coordinates had therefore been previously listed in this table as g.112522818TC>A and c.7584+9G>T. The information has been updated based on feedback from 潘旭 to reflect that the likely causal variant is c.7584+9G and that the normal allele is c.7584+9T[6/4/2023]. 2007 17507457 The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770). Variant was initially identified in the Abyssinian and Somali breeds but identified to be present in several other breeds (Menotti-Raymond et al., 2020; Pubmed:19747862; PMID:35709088)
177 OMIA:000636-9823 pig Membranoproliferative glomerulonephritis type II CFH missense Naturally occurring variant yes Sscrofa11.1 10 NW_018085100.1:g.2553907T>G NM_214281.2:c.3551T>G NP_999446.1:p.(I1184R) CFH is located on Chr10 in Sscrofa10.2 g.2553907T>G, but recorded as 'unplaced/NW_018085100.1' in Sscrofa11.1., published as c.3610T>G; p.(I1166R) 2002 12466119 The genomic location on Sscrofa11.1 was determined by Stephanie Shields (27/05/2020)
1479 OMIA:001794-9940 sheep Romney (Sheep) Cystic fibrosis CFTR nonsense (stop-gain) Genome-editing (CRISPR-Cas9) yes Oar_rambouillet_v1.0 4 NC_040255.1:g.57192317C>A NM_001009781.1:c.1621G>T NP_001009781.1:p.(G541*) NM_001009781.1; NP_001009781.1; published as p.(G542X), coordinates in this table are updated to recent reference sequence 2021 34632318
1478 OMIA:001794-9940 sheep Romney (Sheep) Cystic fibrosis CFTR deletion, small (<=20) Genome-editing (CRISPR-Cas9) yes Oar_rambouillet_v1.0 4 NC_040255.1:g.57218683_57218685del NM_001009781.1:c.1518_1520del NP_001009781.1:p.(F507del) NM_001009781.1; NP_001009781.1; published as p.(F508del), coordinates are updated in this table to recent reference sequence 2021 34632318
61 OMIA:002072-9615 dog Old Danish Pointing Dog (Dog) Myasthenic syndrome, congenital CHAT missense Naturally occurring variant yes CanFam3.1 28 NC_006610.3:g.1484906G>A XM_005637485.3:c.85G>A XP_005637542.1:p.(V29M) XM_005637485.3; XP_005637542.1 2007 17586598 20181218 Thanks to Maarten de Groot for advising FN of the genomic location of this variant.
838 OMIA:002125-9913 taurine cattle Montbéliarde (Cattle) Neurocristopathy CHD7 deletion, small (<=20) Naturally occurring variant yes ARS-UCD1.2 14 g.26402250_26402254del p.(K594Afs*29) 2017 28904385
1691 OMIA:002767-7957 goldfish Twin-tail chordinA nonsense (stop-gain) Naturally occurring variant unknown p.(E127*) 2014 24569511
554 OMIA:002022-9913 taurine cattle Red Dane (Cattle) Arthrogryposis multiplex congenita, CHRNB1-related CHRNB1 deletion, small (<=20) Naturally occurring variant yes ARS-UCD1.3 19 NC_037346.1:g.27122027del NM_174516.2:c.55del NP_776941.1:p.(A19Pfs47*) Published as Chr19:27757270CG > C; CHRNB1 c.55delG; (p.Ala19Profs47*) rs5334474854 2016 27364156 The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.
490 OMIA:000685-9915 indicine cattle (zebu) Brahman (Cattle) Myasthenic syndrome, congenital, CHRNE-related CHRNE 470del20 deletion, small (<=20) Naturally occurring variant yes ARS-UCD1.2 19 g.26485848_26485867del c.470_489del Kraner et al. (2002): "a loss of 20 bp within the coding sequence of exon 5 (Fig. 2), between nucleotide 469 and 490 (nucleotide numbering referring to the cDNA sequence published under accession number X02597". These authors (and subsequent authors) call this variant "470del20". The current (2020) HGVS nomenclature is c.470_489del 200922: g. information move here (g.27119615) until standardised rs5334475050 2002 12481987 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446. The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.
614 OMIA:000685-9615 dog Jack Russell Terrier (Dog) Myasthenic syndrome, congenital, due to CHRNE CHRNE insertion, small (<=20) Naturally occurring variant yes CanFam3.1 5 NC_006587.3:g.31705136dup XM_014113502.2:c.729dup XP_013968977.2:p.(G244Rfs*274) published as c.633_634insC, previously reported in OMIA as c.636_637insC; coordinates in the table updated to NCBI trancript IDs and in accordance to HGVS rules (3'-rule and reported as duplication) [27/08/2024] 2015 26429099
804 OMIA:000685-9615 dog Heideterrier (Dog) Smooth Fox Terrier (Dog) Myasthenic syndrome, congenital, due to CHRNE CHRNE duplication Naturally occurring variant yes CanFam3.1 5 NC_006587.3:g.31707450dup XM_014113502.2:c.1508dup XP_013968977.2:p.(S503Rfs*14)
published as Chr5:31,707,450_31,707,451insG, XM_014113502.1:c.1436_1437insG, XP_013968977.1:p.Ser479ArgfsTer14; in Heideterrier; information in the table updated to new transcript and in accordance with HGVS recommendations [27/08/2024]; for additional breed inforamtion see Pubmed:38853290
2017 28508416
1729 OMIA:000685-9615 dog English Springer Spaniel (Dog) Myasthenic syndrome, congenital, CHRNE-related CHRNE missense Naturally occurring variant yes UU_Cfam_GSD_1.0 5 NC_049226.1:chr5:31915101C>A XM_038536566.1:c.1509C>A XP_038392494.1:p.(S503R) reported in two affected dogs 2024 38853290
1664 OMIA:000698-9940 sheep Merino (Sheep) Myotonia CLCN1 missense Naturally occurring variant yes ARS-UI_Ramb_v3.0 4 NC_056057.1:g.107930611C>T XM_004008136.5:c.844C>T XP_004008185.4:p.(P282S) rs3487175777 2024 39765607
224 OMIA:000698-9925 goat Myotonia CLCN1 missense Naturally occurring variant yes ARS1.2 4 NC_030811.1:g.13857007C>G XM_013963554.2:c.2656G>C XP_013819008.1:p.(A886P) Previously listed in OMIA based on ENSEMBL Variant Effect Predictor: transcript ENSCHIT00000031898.1:c.2590G>C; p.(P864A); c. and p. updated based on NCBI transcript IDs [26/08/2024] rs5334475115 1996 8855341
609 OMIA:000698-9615 dog Australian Cattle Dog (Dog) Border Collie (Dog) Myotonia CLCN1 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 16 NC_006598.3:g.6344748_6344749insT NM_001003124.2:c.2647_2648insA NP_001003124.1:p.(R883Qfs*18) published as c.2665insA; p.(R889fs); coordinates in the table have been updated to a recent reference genome and / or transcript 2007 17552451
1041 OMIA:000698-9615 dog Labrador Retriever (Dog) Myotonia CLCN1 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 16 NC_006598.3:g.6348929T>A NM_001003124.2:c.2275A>T NP_001003124.1:p.(R759X) published as "Chr16:6348929 T A CLCN1 ENSCAFG00000003619.3 stopgain"

2018 29934119
62 OMIA:000698-9615 dog Miniature Schnauzer (Dog) Myotonia CLCN1 missense Naturally occurring variant yes CanFam3.1 16 NC_006598.3:g.6366383G>A NM_001003124.2:c.803C>T NP_001003124.1:p.(T268M) 1999 10452529 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1364 OMIA:000698-9615 dog American Bulldog (Dog) Myotonia CLCN1 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 16 NC_006598.3:g.6369245_6369246insAGAG NM_001003124.2:c.436_437insCTCT NP_001003124.1:p.(Y146Sfs*49) 2020 33246886
1570 OMIA:000698-9615 dog Mixed Breed (Dog) Myotonia CLCN1 deletion, gross (>20) Naturally occurring variant yes CanFam3.1 16 NC_006598.3:g.[6367458_6367478del;6367482del;6367485A>C] NM_001003124.2:c.[703T>G;706del;710_730del] NP_001003124.1:p.[(F235V;V236fs)] published as c.[705T>G; 708del; 712_732del], coordinates in the table have been updated to the CanFam3.1 reference genome and reflect correction in PMID:37212506.
 
2023 37212506
161 OMIA:000698-9796 horse New Forest Pony (Horse) Myotonia CLCN1 missense Naturally occurring variant yes EquCab3.0 4 NC_009147.3:g.96518592A>C XM_001915636.4:c.1775A>C XP_001915671.3:p.(D592A) c.1775A>C, Genbank acc. XM_001915636; p.D592A, Genbank acc. XP_001915671 (Wijnberg et al., 2014) rs5334475185 2012 22197188 (FN thanks Izabela De Assis Rocha, who provided genomic location in EquCab3.0 and the Genbank acc IDs, working under the supervision of Professor Ernie Bailey; 15 April 2020) Revised genomic location kindly provided by Cord Drögemüller; 21 May 2021
1573 OMIA:000698-9685 domestic cat Domestic Longhair Myotonia CLCN1 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 A2 NC_018724.3:g.158967085_158967092del NM_001305027.1:c.428_433+1del NP_001291956.1:p.(L143Qfs3*) published as chrA2:15897085‐15897092, coordinates in this table have been verified in Felis_catus_9.0 2022 35815860
1623 OMIA:000698-9685 domestic cat Myotonia CLCN1 missense Naturally occurring variant yes Felis_catus_9.0 A2 NC_018724.3:g.158976314G>C NM_001305027.1:c.991G>C NP_001291956.1:p.(A331P) 2023 37668104
408 OMIA:000698-9685 domestic cat Myotonia CLCN1 splicing Naturally occurring variant yes Felis_catus_9.0 A2 NC_018724.3:g.158986498G>T NM_001305027.1:c.1930+1G>T 2014 25356766 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
245 OMIA:000698-9940 sheep Rasa Aragonesa, Spain (Sheep) Myotonia CLCN1 missense Naturally occurring variant yes Oar_rambouillet_v1.0 4 NC_040255.1:g.115541101G>A XM_004008136.4:c.277G>A XP_004008185.4:p.(E93K) Oar_v3.1 position is g.106140081G>A published as p.Gln93Lys.  rs401726021 2015 25744800 The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.
1365 OMIA:000698-9823 pig Myotonia CLCN1 deletion, gross (>20) Naturally occurring variant yes Sscrofa11.1 18 NC_010460.4:g.6912538_6916702del 2019 31666547
399 OMIA:000698-89462 water buffalo Murrah (Buffalo) Myotonia CLCN1 splicing Naturally occurring variant yes UOA_WB_1 8 NC_037552.1:g.106762128C>T NM_001290916.1:c.396C>T abnormal splicing associated with synonymous SNP (Ser132, c.396C>T)  2013 23339992
1678 OMIA:000698-9615 dog French Bulldog (Dog) Myotonia CLCN1 duplication Naturally occurring variant yes UU_Cfam_GSD_1.0 16 NC_049237.1:g.6074128_6074135dup NM_001003124.2:c.2423_2430dup NP_001003124.1:p.(F811Lfs*39) 2024 38473107
1757 OMIA:000698-9615 dog Mixed Breed (Dog) Myotonia CLCN1 delins, small (<=20) Naturally occurring variant yes UU_Cfam_GSD_1.0 16 NC_049237.1:g.[6080653T>A;6080658_6080661delinsCCCGTT] NM_001003124.2:c.[1636_1639delinsAACGGG;1644A>T] NP_001003124.1:p.(C546Nfs*5) 2024 39559538
210 OMIA:001887-9913 taurine cattle Belgian Blue (Cattle) Osteopetrosis with gingival hamartomas CLCN7 missense Naturally occurring variant yes ARS-UCD1.2 25 g.[1139611G>T; 1139613A>G] c.[2248T>C;2250C>A] p.(Y750Q) 2014 24159188 The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.
648 OMIA:001135-9913 taurine cattle Japanese Black, Japan (Cattle) Renal dysplasia CLDN16 Type 1 deletion, gross (>20) Naturally occurring variant yes 1 37kb deletion of exons 1-4 2000 10810088
781 OMIA:001135-9913 taurine cattle Japanese Black, Japan (Cattle) Renal dysplasia CLDN16 Type 2 deletion, gross (>20) Naturally occurring variant yes 1 "a 56-kb deletion that eliminates exons 1-4 and 21-bp of exon 5" 200922: g. info moved to here (g.77528017_?) until can be standardised 2002 12047224 Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
1669 OMIA:002432-9913 taurine cattle Hereford (Cattle) Retinal degeneration, CLN3-realted CLN3 delins, small (<=20) Naturally occurring variant yes ARS-UCD1.3 25 NC_037352.1:g.26043843del NM_001075174.2:c.1106del NP_001068642.2:p.(P369Rfs*8) NM_001075174.2; NP_001068642.2 rs5377951844 2024 38516801
593 OMIA:001482-9913 taurine cattle Devon (Cattle) Neuronal ceroid lipofuscinosis, 5 CLN5 insertion, small (<=20) Naturally occurring variant yes ARS-UCD1.2 12 g.52112732_52112733insG c.662_663insG p.(R221Gfs*6) 2006 16935476 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170) 210909: after checking the genome assembly sequence, FN changed g.52461241insG to g.52461241_52461242insG; and c.662insG to c.662_663insG
541 OMIA:001482-9615 dog Golden Retriever (Dog) Neuronal ceroid lipofuscinosis, 5 CLN5 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 22 g.30574953_30574954del c.935_936del p.(E312Vfs*6) NM_001011556.1; NP_001011556.1,published as CLN5:c.934_935delAG; coordinates in the table have been updated to a recent reference genome and / or transcript 2015 25934231 Breed information obtained from Katz et al. (2017) Neurobiol Dis. doi: 10.1016/j.nbd.2017.08.017; Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn.
279 OMIA:001482-9615 dog Australian Cattle Dog (Dog) Border Collie (Dog) Neuronal ceroid lipofuscinosis, 5 CLN5 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 22 NC_006604.3:g.30574637C>T NM_001011556.1:c.619C>T NP_001011556.1:p.(Q207*) 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
389 OMIA:001482-9940 sheep Borderdale, New Zealand (Sheep) Neuronal ceroid lipofuscinosis, 5 CLN5 splicing Naturally occurring variant yes Oar_rambouillet_v1.0 10 g.56313269G>A c.571+1G>A rs422165326 2008 17988881 The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.
68 OMIA:001443-9615 dog Australian Shepherd (Dog) Neuronal ceroid lipofuscinosis, 6 CLN6 missense Naturally occurring variant yes CanFam3.1 30 NC_006612.3:g.32247875A>G NM_001011888.1:c.829T>C NP_001011888.1:p.(W277R) alternative coordinates: ROS_Cfam_1.0:g.32443458A>G ENSCAFT00845033654.1:c.829T>C ENSCAFP00845026347.1:p.Trp277Arg rs1152388420 2011 21234413
1703 OMIA:001443-9615 dog Mixed Breed (Dog) Neuronal ceroid lipofuscinosis, 6 CLN6 splicing Naturally occurring variant yes Dog10K_Boxer_Tasha 30 NC_006612.4:g.32185406C>T 2024 38927597
1213 OMIA:001443-9685 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) rs5334475122 2020 32518081
671 OMIA:001443-9940 sheep South Hampshire, New Zealand (Sheep) Neuronal ceroid lipofuscinosis CLN6 deletion, gross (>20) Naturally occurring variant yes Oar_rambouillet_v1.0 7 deletion of exon 1 2013 23338040
234 OMIA:001443-9940 sheep Merino (Sheep) Neuronal ceroid lipofuscinosis, 6 CLN6 missense Naturally occurring variant yes Oar_rambouillet_v1.0 7 NC_040258.1:g.16039510G>A NM_001040289.1:c.184C>T NP_001035379.1:p.(R62C) protein and cDNA position based on NP_001035379.1 and NM_001040289.1, respectively rs399747319 2006 17046213 The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.
1702 OMIA:001443-9615 dog Schapendoes (Dog) Neuronal ceroid lipofuscinosis, 6 CLN6 missense Naturally occurring variant unknown UU_Cfam_GSD_1.0 30 NC_049251.1:g.32682554A>G XM_038580811.1:c.386T>C XP_038436739.1:p.(L129P) 2024 38866396
1030 OMIA:001962-9542 Japanese macaque Neuronal ceroid lipofuscinosis, 7 CLN7 deletion, small (<=20) Naturally occurring variant yes 4 c.769delA p.(I257Lfs*36) 2018 30048804
690 OMIA:001506-9615 dog Alpine Dachsbracke (Dog) Neuronal ceroid lipofuscinosis, 8 CLN8 deletion, gross (>20) Naturally occurring variant yes CanFam3.1 37 g.30852988_30902901del c.-14679_*18669del NM_001012343.1; 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
971 OMIA:001506-9615 dog Saluki (Dog) 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
69 OMIA:001506-9615 dog English Setter (Dog) Neuronal ceroid lipofuscinosis, 8 CLN8 missense Naturally occurring variant yes CanFam3.1 37 NC_006619.3:g.30874779T>C NM_001012343.1:c.491T>C NP_001012343.1:p.(L164P) 2005 15629147 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
338 OMIA:001506-9615 dog Australian Shepherd (Dog) German Shorthaired Pointer (Dog) Neuronal ceroid lipofuscinosis, 8 CLN8 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 37 NC_006619.3:g.30883950G>A NM_001012343.1:c.585G>A NP_001012343.1: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.
431 OMIA:000119-9685 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 OMIA:000119-9685 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 OMIA:000119-9685 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 OMIA:000119-9685 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 OMIA:000119-9685 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) rs5334475157 2007 17553163 The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770)
800 OMIA:000119-9685 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 rs5334475140 2016 27755584 The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770)
801 OMIA:000119-9685 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 OMIA:000119-9685 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) rs5334475138 2007 17553163 The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770)
1446 OMIA:000119-9685 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 OMIA:000119-9685 domestic cat Ragdoll (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 rs5334475151 2016 27171395 The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770)
1413 OMIA:000119-9685 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 OMIA:000119-9685 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 OMIA:000119-9685 domestic cat Ragdoll (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 OMIA:000119-9685 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) rs5334475141 2007 17553163 The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770)
547 OMIA:001977-9615 dog Shetland Sheepdog (Dog) Progressive retinal atrophy, due to CNGA1 mutations CNGA1 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 13 g.43831897_43831900del c.1752_1755del p.(T585Sfs*7) NM_001003222.1; published as c.1752_1755delAACT 2015 26202106 Genomic and protein coordinates in CanFam3.1 provided by Robert Kuhn
548 OMIA:001481-9615 dog Labrador Retriever (Dog) Achromatopsia-2 CNGA3 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 10 g.44234198_44234200del c.1931_1933del p.(V644del) NM_001301112.1; published as c.1931_1933delTGG rs852784090 2015 26407004 Genomic coordinates in CanFam3.1 and EVA ID provided by Robert Kuhn
97 OMIA:001481-9615 dog German Shepherd Dog (Dog) Achromatopsia-2 CNGA3 missense Naturally occurring variant yes CanFam3.1 10 NC_006592.3:g.44234861C>T NM_001301112.1:c.1270C>T NP_001288041.1:p.(R424W) NM_001301112.1; NP_001288041.1 2015 26407004 Genomic position in CanFam3.1 provided by Mateo Etcheveste.
1016 OMIA:001481-9940 sheep Awassi (Sheep) Achromatopsia-2 (day blindness) CNGA3 missense Naturally occurring variant yes Oar_rambouillet_v1.0 3 NC_040254.1:g.108958871C>T XM_027965914.1:c.1618G>A XP_027821715.1:p.(G540S) 2017 28282490 Genomic coordinate on Oar_v4.0 (g.102602387G>A) kindly provided by Eyal Seroussi via Elisha Gootwine. The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager & Shernae Woolley, EMAI, NSW Department of Primary Industries.
317 OMIA:001481-9940 sheep Awassi (Sheep) Achromatopsia-2 (day blindness) CNGA3 nonsense (stop-gain) Naturally occurring variant yes Oori1 scaffold00739 3 g.263324C>T c.706C>T p.(R236*) In a pers. comm. to FN via Elisha Gootwine, Eyal Seroussi advises that the Oar_v4.0 assembly has errors in the region of of this mutation, such that it cannot be mapped onto that assembly. It can, however, be mapped on to the Ovis aries musimon sequence: "Exon 8 mutation is at position 263,324 in Ovis aries musimon unplaced genomic scaffold, alternate assembly Oori1 scaffold00739 (Sequence ID: NW_011942977.1 Length: 1056687)" 2010 19874885
918 OMIA:002723-9615 dog Papillon (Dog) Phalène (Dog) Progressive retinal atrophy CNGB1 delins, small (<=20) Naturally occurring variant yes CanFam3.1 2 g.58622673_58622675delinsCTAGCTAC c.2387_2389delinsCTAGCTAC p.(Y796Sfs*7) NM_001284462.1; NP_001271391.1; published as c.2685delA2687_2688insTAGCTA and p.(Y889Sfs*5); coordinates in the table have been updated to a recent reference genome and / or transcript and updated to HGVS recommendations rs1152388403 2013 24015210
631 OMIA:001365-9615 dog Alaskan Malamute (Dog) Miniature Australian Shepherd Dog (Dog) Achromatopsia (cone degeneration, hemeralopia), AMAL CNGB3 cd^AMAL deletion, gross (>20) Naturally occurring variant yes 29 "deletion removing all exons of canine CNGB3" 2002 12140185
1400 OMIA:001365-9913 taurine cattle Brown Swiss (Cattle) Achromatopsia CNGB3 OH1 missense Naturally occurring variant yes ARS-UCD1.3 14 NC_037341.1:g.76011964G>A XM_015474554.2:c.751G>A XP_015330040.2:p.(D251N) XM_015474554.2: c.751G>A, XP_015330040.2: p.Asp251Asn ENSBTAT00000065296.2:c.751G>A ENSBTAP00000054173.2:p.Asp251Asn rs716218235 2021 34830323
27 OMIA:001365-9615 dog German Shorthaired Pointer (Dog) Achromatopsia (cone degeneration, hemeralopia), GSPT CNGB3 cd^GSPT missense Naturally occurring variant yes CanFam3.1 29 NC_006611.3:g.32837065C>T NM_001003030.1:c.784G>A NP_001003030.1: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
1502 OMIA:002591-9615 dog Dalmatian (Dog) Lysosomal storage disease, CNP-related CNP deletion, small (<=20) Naturally occurring variant yes Dog10K_Boxer_Tasha 9 g.20350240del c.1107del p.(K370Nfs*11) ENSCAFT00000102206 2022 35447247
1680 OMIA:002591-9615 dog Weimaraner (Dog) Lysosomal storage disease, CNP-related CNP missense Naturally occurring variant yes Dog10K_Boxer_Tasha 9 NC_006591.4:g.20355460G>A XM_844467.6:c.125C>T XP_849560.2:p.(T42M) XM_844467.6; XP_849560.2; NC_006591.4 2024 38397235
1273 OMIA:002301-9615 dog Labrador Retriever (Dog) Leonberger (Dog) Pyrenean Shepherd (Dog) Saint Bernard (Dog) Laryngeal paralysis and polyneuropathy CNTNAP1 LPPN3 missense Naturally occurring variant yes CanFam3.1 9 NC_006591.3:g.20298261C>T XM_548083.6:c.2810G>A XP_548083.3:p.(G937E) XM_548083.6:c.2810G>A; XP_548083.3:p.Gly937Glu; variant initially identified in Labrador Retriever, Leonberger and Saint Bernard and later reported in a Pyrenean Shepherd (PMID: 37582787) rs24587752 2020 33261176
172 OMIA:001718-9823 pig Dwarfism, Schmid metaphyseal chondrodysplasia COL10A1 missense Naturally occurring variant yes Sscrofa11.1 1 NC_010443.5:g.81767089C>T NM_001005153.1:c.1768G>A NP_001005153.1:p.(G590R) rs5334475171 2000 11130976 The genomic and CDS position was determined by Stephanie Shields and the effect was confirmed with Ensembl VEP (27/05/2020)
1657 OMIA:002811-9615 dog Old English Sheepdog (Dog) Multiocular defect COL11A1 missense Naturally occurring variant yes CanFam3.1 6 g.47611886T>C c.1775T>C p.(F1592S) 2023 38153936
78 OMIA:001772-9615 dog Labrador Retriever (Dog) Skeletal dysplasia 2 (SD2) COL11A2 missense Naturally occurring variant yes CanFam3.1 12 NC_006594.3:g.2652874C>G XM_538855.5:c.143G>C XP_538855.2:p.(R48P) ROS_Cfam_1.0:g.2983602C>G ENSCAFT00845034709.1:c.143G>C ENSCAFP00845027184.1:p.Arg48Pro rs851399084 2013 23527306 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1634 OMIA:002793-9685 domestic cat American Shorthair (Cat) Epidermolysis bullosa, junctional, COL17A1-related COL17A1 splicing Naturally occurring variant yes F.catus_Fca126_mat1.0 D2 g.62124169del c.3019+1del XM_006938156.5; variant reported in a single affected cat 2023 37895184
1635 OMIA:002793-9685 domestic cat European Shorthair (Cat) Epidermolysis bullosa, junctional, COL17A1-related COL17A1 splicing Naturally occurring variant yes F.catus_Fca126_mat1.0 D2 g.62149308C>T c.769+5G>A p.([=,p.Val257Glyfs*82]) XM_006938156.5; XP_006938218.3, variant described in a single affected cat 2023 37895184
839 OMIA:002127-9913 taurine cattle Simmental (Cattle) Osteogenesis imperfecta, type II, COL1A1-related COL1A1 delins, small (<=20) Naturally occurring variant yes ARS-UCD1.2 19 g.36470764_36470767delinsT c.3145_3148delinsT p.(A1049_P1050delinsS) UMD3.1 position is g.37101299_37101302delinsT; cDNA position based on ENSBTAT00000017420.4 rs876049195 2017 28904385 The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.
1031 OMIA:002127-9913 taurine cattle Red Angus (Cattle) Osteogenesis imperfecta, type II, COL1A1-related COL1A1 missense Naturally occurring variant yes ARS-UCD1.3 19 NC_037346.1:g.36463798G>A NM_001034039.2:c.1063G>A NP_001029211.1:p.(G355S) Petersen et al. (2019): "PolyPhen-2 predicted the mutation to be “probably damaging” with a score of 1.000 (sensitivity 0.00; specificity 1.00). Similarly, PROVEAN prediction classified the variant as “Deleterious” with a score of − 4.615, exceeding both the default (− 2.5) and stringent (− 4.1) thresholds for this classification." The genomic coordinate in the UMD3.1 assembly is g.37094333G>A (Petersen et al., 2019). The coding sequence coordinates are c.1063G>A (ENSBTAT00000017420.4) (Petersen, pers. comm.) rs3423092630 2019 30788588
1289 OMIA:002127-9913 taurine cattle Holstein (black and white) (Cattle) Osteogenesis imperfecta, type II, COL1A1-related COL1A1 missense Naturally occurring variant yes ARS-UCD1.3 19 NC_037346.1:g.36473359T>A NM_001034039.2:c.3917T>A NP_001029211.1:p.(V1306E) NM_001034039.2: c.3917T>A; XP_024835395.1: p.Val1306Glu (Jacinto et al., 2021) rs5334474947 2021 33672767
1698 OMIA:002127-9913 taurine cattle Normande (Cattle) Osteogenesis imperfecta, type II, COL1A1-related COL1A1 missense Naturally occurring variant yes ARS-UCD1.3 19 NC_037346.1:g.36473965G>A NM_001034039.2:c.4234G>A NP_001029211.1:p.(D1412N) 2024 38773368
959 OMIA:002126-9615 dog Golden Retriever (Dog) Osteogenesis imperfecta, type III, COL1A1-related COL1A1 missense Naturally occurring variant yes CanFam3.1 9 NC_006591.3:g.26193593C>G NM_001003090.1:c.1145G>C NP_001003090.1:p.(G382A) NM_001003090.1; NP_001003090.1; published as c.1276G>C, p.(G208A); coordinates in the table have been updated to a recent reference genome and / or transcript rs1152388502 2000 11147834
762 OMIA:002112-9615 dog Beagle (Dog) Osteogenesis imperfecta, COL1A2-related COL1A2 delins, small (<=20) Naturally occurring variant yes CanFam3.1 14 g.(19918265_19918268delinsTGTCATTGG) c.3656_3859delinsTGTCATTGG p.(L1286Cfs*31) NM_001003187.1; NP_001003187.1; "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." The genomic information is presented in brackets as the variant was detected in cDNA and the genomic position is predicted. Coordinates in the table have been updated to a recent reference genome and or transcripts. 2001 11393792
1114 OMIA:002112-9615 dog Lagotto Romagnolo (Dog) Osteogenesis imperfecta, COL1A2-related COL1A2 duplication Naturally occurring variant yes CanFam3.1 14 g.19898279_19898281dup c.877_879dup p.(P293dup) NM_001003187.1; NP_001003187.1 2019 31468557
852 OMIA:002112-9615 dog Chow Chow (Dog) Osteogenesis imperfecta, COL1A2-related COL1A2 splicing Naturally occurring variant yes CanFam3.1 14 NC_006596.3:g.19898487G>A NM_001003187.1:c.936+1G>A 2018 29036614
1275 OMIA:001926-9913 taurine cattle Holstein Friesian (Cattle) Bulldog calf COL2A1 deletion, gross (>20) Naturally occurring variant yes ARS-UCD1.2 5 g.32301911_32308589del "Sanger sequencing revealed the precise breakpoints of the heterozygous deletion from position 32 301 911 located in intron 25 to 32 308 589 located within exon 45. The 6679 bp deletion includes the entire sequence of 18 exons (26–44) plus the first 36 nucleotides of exon 45" (Jacinto et al., 2020) 2021 33316082
1241 OMIA:001926-9913 taurine cattle Holstein Friesian (Cattle) Bulldog calf COL2A1 delins, gross (>20) Naturally occurring variant yes ARS-UCD1.2 5 g.32303127_32306640delinsTCTGGGGAGC 2020 32894162
840 OMIA:001926-9913 taurine cattle Charolais (Cattle) Salers (Cattle) Bulldog calf COL2A1 missense Naturally occurring variant yes ARS-UCD1.3 5 NC_037332.1:g.32301746G>A NM_001001135.3:c.1799G>A NP_001001135.2:p.(G600D) previously listed in OMIA as c.1791G>A, updated to reflect recent transcrupt inforamtion [03/09/2024] rs5334474917 2017 28904385
842 OMIA:001926-9913 taurine cattle Holstein Friesian (Cattle) Bulldog calf COL2A1 missense Naturally occurring variant yes ARS-UCD1.3 5 NC_037332.1:g.32303739G>A NM_001001135.3:c.2158G>A NP_001001135.2:p.(G720S) rs455596159 2017 28904385 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
414 OMIA:001926-9913 taurine cattle Danish Holstein (Cattle) bulldog calf COL2A1 splicing Naturally occurring variant yes ARS-UCD1.3 5 NC_037332.1:g.32305226G>A NM_001001135.3:c.2463+1G>A rs5334475095 2016 27296271 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
223 OMIA:001926-9913 taurine cattle Holstein Friesian (Cattle) Bulldog calf COL2A1 missense Naturally occurring variant yes ARS-UCD1.3 5 NC_037332.1:g.32307658G>A NM_001001135.3:c.2878G>A NP_001001135.2:p.(G960R) rs3423194986 2014 25017103
841 OMIA:001926-9913 taurine cattle Holstein Friesian (Cattle) Bulldog calf COL2A1 missense Naturally occurring variant yes ARS-UCD1.3 5 NC_037332.1:g.32308008G>A NM_001001135.3:c.2986G>A NP_001001135.2:p.(G996S) rs876243579 2017 28904385
1026 OMIA:001926-9913 taurine cattle Holstein Friesian (Cattle) Bulldog calf COL2A1 missense Naturally occurring variant yes ARS-UCD1.3 5 NC_037332.1:g.32308734G>A NM_001001135.3:c.3166G>A NP_001001135.2:p.(G1056S) rs5334475093 2019 30378686
278 OMIA:002618-9615 dog English Springer Spaniel (Dog) Nephropathy COL4A4 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 25 NC_006607.3:g.39893376G>A NM_001031818.1:c.2713C>T NP_001026988.1:p.(Q905*) NM_001031818.1; NP_001026988.1; published as c.2806C>T and p.(Q904*) 2012 22369189
277 OMIA:002618-9615 dog English Cocker Spaniel (Dog) Nephropathy COL4A4 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 25 NC_006607.3:g.39953906T>A NM_001031818.1:c.115A>T NP_001026988.1:p.(K39*) 2007 17552442 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
471 OMIA:001112-9615 dog Navasota (mixed breed) (Dog) Nephritis, X-linked COL4A5 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 X g.82134508_82134517del c.513_522del p.(N172Ifs) XM_005640969.3; XP_005641026.1; a 10 base pair (TAATCCAGGA) deletion in exon 9 of COL4A5 2003 12879362
276 OMIA:001112-9615 dog Samoyed (Dog) Nephritis, X-linked COL4A5 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 X NC_006621.3:g.82196868G>T NM_001002979.1:c.3079G>T NP_001002979.1:p.(G1027*) 1994 8171024 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1124 OMIA:002165-9615 dog Labrador Retriever (Dog) Ehlers-Danlos syndrome, classic type, 1 COL5A1 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 9 NC_006591.3:g.50806169del XM_022423936.1:c.3038del XP_022279644.1:p.(G1013Vfs*260) XM_022423936.1; XP_022279644.1; published as c.3038delG - "variant arose by a de novo mutation event during the development of the mother." (Bauer et al., 2019) 2019 31546637
1125 OMIA:002165-9615 dog Mixed Breed (Dog) Ehlers-Danlos syndrome, classic type, 1 COL5A1 missense Naturally occurring variant yes CanFam3.1 9 NC_006591.3:g.50832936G>A XM_022423936.1:c.4711G>A XP_022279644.1:p.(G1571R) XM_022423936.1,c.4711G>A; XP_022279644.1,p.(Gly1571Arg) 2019 31546637
1722 OMIA:002165-9615 dog Golden Retriever (Dog) Ehlers-Danlos syndrome, classic type 1 COL5A1 nonsense (stop-gain) Naturally occurring variant yes Dog10K_Boxer_Tasha 9 NC_006591.4:g.50091843C>T XM_038615652.1:c.2512C>T XP_038471580.1:p.(R838*) ENSCAFT00000031582.6:c.2500C>T, p.(Arg834Ter) 2024 39175162
1719 OMIA:002165-9615 dog Mixed Breed (Dog) Ehlers-Danlos syndrome, classic type 1 COL5A1 deletion, small (<=20) Naturally occurring variant yes Dog10K_Boxer_Tasha 9 NC_006591.4:g.50109824del XM_038615652.1:c.3371del XP_038471580.1:p.(E1124Lfs*364) ENSCAFT00000031582.6:c.3360del, p.(E1121Lfs*364)  2024 39175162
1721 OMIA:002165-9615 dog Dachshund, Miniature (Dog) Ehlers-Danlos syndrome, classic type 1 COL5A1 duplication Naturally occurring variant yes Dog10K_Boxer_Tasha 9 NC_006591.4:g.50111993dup XM_038615652.1:c.3675dup XP_038471580.1:p.(G1226Rfs*62) Published as g.50111986insC, ENSCAFT00000031582.6:c.3663_3664insC, p.(Gly1222Argfs*62). Coordinates in this table have been adjusted in accordance with the HGVS recommendations.  2024 39175162
1720 OMIA:002165-9615 dog Scottish Terrier (Dog) Ehlers-Danlos syndrome, classic type 1 COL5A1 deletion, small (<=20) Naturally occurring variant yes Dog10K_Boxer_Tasha 9 NC_006591.4:g.50114284del XM_038615652.1:c.3908del XP_038471580.1:(P1303Rfs*186) Published as g.50114279delC; ENSCAFT00000031582.6:c.3891del; p.(P1299Rfs*186). Coordinates in this table have been adjusted in accordance with the HGVS 3'rule. 2024 39175162
1724 OMIA:002165-9615 dog German Shepherd Dog (Dog) Ehlers-Danlos syndrome, classic type 1 COL5A1 missense Naturally occurring variant yes Dog10K_Boxer_Tasha 9 NC_006591.4:g.50116228G>A XM_038615652.1:c.4117G>A XP_038471580.1:p.(G1373R) ENSCAFT00000031582.6:c.4105G>A, p.(Gly1369Arg) 2024 39175162
1723 OMIA:002165-9615 dog Beagle (Dog) Ehlers-Danlos syndrome, classic type 1 COL5A1 deletion, small (<=20) Naturally occurring variant yes Dog10K_Boxer_Tasha 9 NC_006591.4:g.50131170_50131172del XM_038615652.1:c.5320_5322del XP_038471580.1:p.G1774del Published as chr9:50131166delGAG, ENSCAFT00000031582.6:c.5296_5298del,  p.(Glu1766del). Coordinates in this table have been adjusted in accordance with the HGVS 3'rule.
2024 39175162
1696 OMIA:002165-9685 domestic cat Maine Coon (Cat) classical Ehlers-Danlos syndrome COL5A1 deletion, gross (>20) Naturally occurring variant yes F.catus_Fcat126_mat1.0 D4 NC_058380.1:g.93561989_93595728del deletion of 33740 base pairs including the last two exons of COL5A1 2024 38745376
1465 OMIA:002165-9685 domestic cat Bombay (Cat) 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 OMIA:002165-9685 domestic cat Domestic Shorthair classical Ehlers-Danlos syndrome 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 OMIA:002165-9685 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
1609 OMIA:002165-9685 domestic cat Domestic medium-haired classical Ehlers-Danlos syndrome COL5A1 splicing Naturally occurring variant yes Felis_catus_9.0 D4 g.93290016T>G c.501-2A>C XM_023242950.1 2023 37594181
1464 OMIA:002165-9685 domestic cat Bengal (Cat) 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
1263 OMIA:002295-9913 taurine cattle Holstein (black and white) (Cattle) Ehlers-Danlos syndrome, classic type, 2 COL5A2 missense Naturally occurring variant yes ARS-UCD1.3 2 NC_037329.1:g.7331916G>T XM_024979774.1:c.2366G>T XP_024835542.1:p.(G789V) XM_024979774.1: c.2366G>T; XP_024835542.1: p.Gly789Val (Jacinto et al., 2020) rs5334475045 2020 33143196
1460 OMIA:002295-9615 dog Chihuahua (Dog) Ehlers-Danlos syndrome, classic type, 2 COL5A2 deletion, gross (>20) Naturally occurring variant yes CanFam3.1 36 g.30548697_30548723del c.3388_3414del p.(Lys1130_Asp1138del) XM_005640393.3; XP_005640450.1 2022 35627319
340 OMIA:001967-9615 dog Landseer (Dog) Muscular dystrophy, Ullrich type COL6A1 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 31 NC_006613.3:g.39303964G>T XM_003434001.5:c.289G>T XP_003434049.2:p.(E97*) XM_003434001.5; XP_003434049.2; previously incorrectly listed in this table as c.289C>T; p.(Q97*) - corrected 8/2/2022 2015 26438297
1184 OMIA:002260-9913 taurine cattle Holstein Friesian (Cattle) de novo mutation in an AI sire COL6A3 missense Naturally occurring variant yes ARS-UCD1.3 3 NC_037330.1:g.116826597G>A XM_024990262.1:c.5675C>T XP_024846030.1:p.(T1892M) Bourneuf et al. (2017) detected COL6A3 g.117453719G>A; p.T1894M as a de novo recessive potentially lethal mutation from an analysis of whole-genome-sequence of a Holstein AI bull. No information was provided on the descendants of this bull. p. coordinates have been updated to reflect recent NCBI transcript [29/08/2024]. rs5334475059 2017 28904385
1625 OMIA:002274-9615 dog American Staffordshire Terrier (Dog) Muscular dystrophy, COL6A3-related COL6A3 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 25 g.48005972del c.6398del p.(P2133Rfs*109) NM_001103215.1; NP_001096685.1; published as g.48287602CG>C in CanFam4 2023 37706358
1208 OMIA:002274-9615 dog Labrador Retriever (Dog) Muscular dystrophy, COL6A3-related COL6A3 splicing Naturally occurring variant yes CanFam3.1 25 NC_006607.3:g.48007994C>T NM_001103215.1:c.6210+1G>A NM_001103215.1; CanFam3.1 chr25:48,007,994C > T; NM_001103215.1 c.6210 + 1G > A (Bolduc et al., 2020) 2020 32439203
1207 OMIA:002274-9615 dog Labrador Retriever (Dog) Muscular dystrophy, COL6A3-related COL6A3 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 25 NC_006607.3:g.48014962G>A NM_001103215.1:c.4726C>T NP_001096685.1:p.(R1576*) NM_001103215.1; NP_001096685.1; CanFam3.1 chr25:48,014,962G > A; NM_001103215.1 c.4726C > T, p.R1576* (Bolduc et al., 2020) 2020 32439203
292 OMIA:000341-9913 taurine cattle Rotes Höhenvieh, Germany (Cattle) Vorderwälder, Germany (Cattle) Epidermolysis bullosa, dystrophic COL7A1 nonsense (stop-gain) Naturally occurring variant yes ARS-UCD1.2 22 g.51301158C>T c.4762C>T p.(R1588*) rs876174537 2012 22715415 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed and some variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
1276 OMIA:000341-9615 dog Basset Hound (Dog) Epidermolysis bullosa, dystrophic COL7A1 complex rearrangement Naturally occurring variant yes CanFam3.1 20 g.[40524302_40524308del;40524267_40524380dup] c.[2028_2034del;1993_2050+56dup] p.(V677Sfs*11) NM_001002980.1; NP_001002980.1; 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). 2020 33291836
357 OMIA:000341-9615 dog Central Asian Shepherd Dog (Dog) Epidermolysis bullosa, dystrophic COL7A1 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 20 NC_006602.3:g.40532043C>T XM_022406202.1:c.4579C>T XP_022261910.1:p.(R1527*) 2017 28493971 Variant coordinates obtained from or confirmed by EBI's Variant Effect Predictor (VEP) tool
38 OMIA:000341-9615 dog Golden Retriever (Dog) Epidermolysis bullosa, dystrophic COL7A1 missense Naturally occurring variant yes CanFam3.1 20 NC_006602.3:g.40538034G>A XM_022406202.1:c.5716G>A XP_022261910.1:p.(G1906S) rs1152388417 2003 12874109 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
641 OMIA:001523-9615 dog Samoyed (Dog) 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
581 OMIA:001522-9615 dog Labrador Retriever (Dog) Oculoskeletal dysplasia 1 COL9A3 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 24 g.46653422_46653423insG c.10_11insG p.(A4Gfs*46) NM_001197171.1; NP_001184100.1; published as "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.7–10insG). ... (p.A4GX46)" Goldstein et al. (2010). Information in this table has been changed in accordance to HGVS 3'rule and updated to the current reference genome. 2010 20686772
1092 OMIA:001522-9615 dog Northern Inuit Dog (Dog) Oculoskeletal dysplasia 1 COL9A3 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 24 NC_006606.3:g.46660067C>T NM_001197171.1:c.700C>T NP_001184100.1:p.(R234*) 2019 31415586
944 OMIA:001621-9685 domestic cat Devon Rex (Cat) Sphynx (Cat) 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
643 OMIA:001988-9615 dog Bedlington Terrier (Dog) 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
1545 OMIA:002667-9031 chicken Feather colour, Inhibitor of gold COMTD1 IG insertion, small (<=20) Naturally occurring variant no GRCg6a 6 g.15675521_15675522insCT c.747_748insCT p.(Q250fs) XM_015288295.1; XP_015143781.1 2023 37068079
215 OMIA:001529-9913 taurine cattle Holstein Friesian (Cattle) Dominant red COPA DR^DR missense Naturally occurring variant no ARS-UCD1.3 3 NC_037330.1:g.9361962C>T NM_001105645.1:c.478C>T NP_001099115.1:p.(R160C) rs3423151160 2017 28904385 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1506 OMIA:001274-452646 American mink Coat colour, black crystal COPA missense Naturally occurring variant unknown NNQGG.v01 FNWR01000261.1 g.4876673G>A c.478C>T p.(R160C) 2022 35729186
1012 OMIA:002159-9694 tiger Golden tiger CORIN missense Naturally occurring variant no c.1759C>T p.(H587Y) 2017 28281538
1463 OMIA:002159-9685 domestic cat British Shorthair (Cat) Copper (British recessive wideband) CORIN vwb^BSH nonsense (stop-gain) Naturally occurring variant no Felis_catus_9.0 B1 c.2425C>T p.(R809*) ON640807 2022 35703390
1456 OMIA:002159-9685 domestic cat Siberian (Cat) Extreme sunshine (Siberian recessive extreme wideband) CORIN vwb^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 OMIA:002159-9685 domestic cat Siberian (Cat) Sunshine (golden) CORIN vwb^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.
358 OMIA:002111-9913 taurine cattle Holstein (red and white) (Cattle) Cataract, recessive, CPAMD8-related CPAMD8 nonsense (stop-gain) Naturally occurring variant yes ARS-UCD1.3 7 NC_037334.1:g.6073556C>T XM_015471929.2:c.220C>T XP_015327415.2:p.(Q74*) rs5334474964 2017 28683140
1418 OMIA:002519-9913 taurine cattle Brown Swiss (Cattle) Haplotype with homozygous deficiency BH24 CPT1C BH24 missense Naturally occurring variant yes ARS-UCD1.3 18 NC_037345.1:g.56098048G>A XM_002695120.5:c.158G>A XP_002695166.2:p.(G53D) XM_002695120.5 rs719328437 2021 34915862
1428 OMIA:002533-9685 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 OMIA:000881-9685 domestic cat Abyssinian (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
1491 OMIA:001643-10036 golden hamster duper Cry1 deletion, small (<=20) Naturally occurring variant unknown c.578del p.(P193fs) published as c.578delC 2022 35471909
1176 OMIA:000168-10141 domestic guinea pig Cataract Cryz splicing Naturally occurring variant yes "a 102-bp deletion towards the 3' end of the coding region. This deletion does not interfere with the reading frame but results in a protein 34 amino acids shorter." (Rodriguez et al., 1992) 1992 1390943
692 OMIA:000852-9925 goat Casein, alpha-S1, reduced concentration CSN1S1 insertion, gross (>20) Naturally occurring variant no 6 "a 457-bp insertion within exon 19 (last untranslated exon). This insert is a truncated long interspersed repeated element (LINE) containing part of the ORF-2, the 3' UTR and the poly(A) tail of the original retroposon." 1994 7926797
907 OMIA:001623-9925 goat Casein, alpha-S2, absence CSN1S2 nonsense (stop-gain) Naturally occurring variant no ARS1.2 6 NC_030813.1:g.86085134G>A NM_001285585.1:c.374G>A NP_001272514.1:p.W125* published as as AJ131465 c.763G>A and p.(T110*), publication identifies that the codon changed is 'TGG' coding for tryptophan (W) - information in the table updated to recent transcript [04/10/2024] rs268293093 2001 11419340 The genomic location on ARS1 was determined by Katie Eager, EMAI, NSW Department of Primary Industries
220 OMIA:002033-9913 taurine cattle A2 milk CSN2 A2 missense Naturally occurring variant no ARS-UCD1.2 6 g.85451298T>G c.245A>C p.(H82P) Note that cattle cannot be genotyped for the A2 allele solely on the basis of the c.245A>C variant because this variant is common to 4 other alleles; see Table 2 of Caroli et al. (2009) J. Dairy Sci. 92, 5335-5352 (Matt McClure, pers. comm.) rs43703011 2013 23102962 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1312 OMIA:001424-9925 goat Absence of β‐casein CSN2 CSN2^0 deletion, small (<=20) Naturally occurring variant no ARS1.2 6 NC_030813.1:g.86008404del XM_013964699.2:c.295del XP_013820153.1:p.I99Sfs*10 Changed from g.86008401del to g.86008404del to adhere to the HGVS 3’rule [22/01/10]' previously listed as ENSCHIT00000032661.1:c.175del ENSCHIP00000024801.1:p.Ile59SerfsTer10; update to NCBI transcript information [04/10/24]; Persuy et al. (1999): "allele CSN2^O had a one-nucleotide deletion in the 5' end of exon 7, which introduces a premature stop codon. The open reading frame of allele CSN2^O encodes a shortened polypeptide of 72 amino acids, compared to 223 amino acids for caprine pre beta-casein A." rs645737170 1999 10612234
1311 OMIA:001424-9925 goat Absence of β‐casein CSN2 CSN2^01 regulatory Naturally occurring variant no ARS1.2 6 NC_030813.1:g.86015651A>G Cosenza et al. (2016): "nucleotide C .... negatively affects the promoter activity of the CSN2 gene" Synonyms: dbSNP ss1245869815 rs654545998 2007 17931404 The genomic location on ARS1 was determined by Katie Eager, EMAI, NSW Department of Primary Industries
1186 OMIA:002262-9913 taurine cattle Montbéliarde (Cattle) de novo mutation in an AI sire CSNK1G2 missense Naturally occurring variant yes ARS-UCD1.2 7 g.44265842G>C p.(D164H) Bourneuf et al. (2017) detected Chr7 CSNK1G2 g.45885860G>C; p.D164H as a de novo recessive potentially lethal mutation from an analysis of whole-genome-sequence of a Montbéliarde AI bull. No information was provided on the descendants of this bull. rs5334475073 2017 28904385
66 OMIA:001505-9615 dog American Bulldog (Dog) Neuronal ceroid lipofuscinosis, 10 CTSD missense Naturally occurring variant yes CanFam3.1 18 NC_006600.3:g.46013354C>T NM_001025621.1:c.597G>A NP_001020792.1:p.(M199I) 2006 16386934 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
905 OMIA:001505-9940 sheep Roslagsfår, Sweden (Sheep) Neuronal ceroid lipofuscinosis, 10 CTSD missense Naturally occurring variant yes Oar_rambouillet_v1.0 21 NC_040272.1:g.51583020G>A XM_027959254.1:c.883G>A XP_027815055.1:p.(D295N) published as c.934G>A; protein and cDNA positions in this table based on XP_027815055.1 and XM_027959254.1, respectively 2000 10856224 The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.
1517 OMIA:002607-9685 domestic cat Domestic Longhair Pyknodysostosis CTSK nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 C1 g.105945826G>A c.724C>T p.(R242*) ENSFCAT00000003643; variant is reported in a single affected cat 2022 36532681
529 OMIA:001786-9615 dog Beagle (Dog) Intestinal cobalamin malabsorption due to CUBN mutation CUBN deletion, small (<=20) Naturally occurring variant yes CanFam3.1 2 NC_006584.3:g.19796293del NM_001003148.1:c.786del NP_001003148.1:p.(D262Efs*47) NM_001003148.1; NP_001003148.1; deletion C rs1152388404 2014 24164695
447 OMIA:001786-9615 dog Border Collie (Dog) Intestinal cobalamin malabsorption due to CUBN mutation CUBN deletion, small (<=20) Naturally occurring variant yes CanFam3.1 2 NC_006584.3:g.19974334del NM_001003148.1:c.8392del NP_001003148.1:p.(Q2798Rfs*3) NM_001003148.1; NP_001003148.1; deletion C 2013 23613799
1036 OMIA:001786-9615 dog Komondor (Dog) Intestinal cobalamin malabsorption, CUBN-related CUBN splicing Naturally occurring variant yes CanFam3.1 2 NC_006584.3:g.19981457G>A NM_001003148.1:c.8746+1G>A NM_001003148.1 2018 30591068
287 OMIA:001697-9913 taurine cattle Jersey (Cattle) Abortion due to haplotype JH1 CWC15 nonsense (stop-gain) Naturally occurring variant yes ARS-UCD1.3 15 NC_037342.1:g.15449431C>T NM_001046399.2:c.163C>T NP_001039864.1:p.(R55*) UMD3.1 position is g.15707169C>T, cDNA and protein positions based on XM_005215764.2 rs1115118696 2013 23349982 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170). The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.
850 OMIA:002131-9615 dog Mixed Breed (Dog) Methaemoglobinaemia, CYB5R3-related CYB5R3 missense Naturally occurring variant yes CanFam3.1 10 g.22832962G>A c.227G>A p.(G72S) NM_001048084.1; NP_001041549.1; published as g.22832963G>A, c.214G>A - coordinates updated based on Table 1, Jaffey et al. (2020), reported in a single dog 2017 28963729 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1700 OMIA:002131-9615 dog Mixed Breed (Dog) Methaemoglobinaemia, CYB5R3-related CYB5R3 missense Naturally occurring variant yes CanFam3.1 10 NC_006592.3:22836975A>G NM_001048084.1:c.604A>C NP_001041549.1:p.(T202A) reported in a single dog 2020 33293645
1699 OMIA:002131-9615 dog American Pit Bull Terrier (Dog) Mixed Breed (Dog) Methaemoglobinaemia, CYB5R3-related CYB5R3 missense Naturally occurring variant yes CanFam3.1 10 NC_006592.3:22841895G>C NM_001048084.1:c.656G>C NP_001041549.1:p.(R219P) 2020 33293645
967 OMIA:002131-9615 dog Chihuahua (Dog) Mixed Breed (Dog) Pomeranian (Dog) Rat Terrier (Dog) Methaemoglobinaemia, CYB5R3-related CYB5R3 missense Naturally occurring variant yes CanFam3.1 10 NC_006592.3:g.22836951A>C NM_001048084.1:c.580A>C NP_001041549.1:p.(I194L) NM_001048084.1; NP_001041549.1 2018 29356095 Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn.
1548 OMIA:002131-9685 domestic cat Domestic Shorthair Methaemoglobinaemia, CYB5R3-related CYB5R3 splicing Naturally occurring variant yes F.catus_Fca126_mat1.0 B4 g.135605715C>T c.226+5G>A XM_045062469.1; two transcripts were observed in the cat with the splice variant resulting in two predicted protein variants: XP_044918404.1:p.(G76_Q77insERSPDPARVEPG) and XP_044918404.1:p.(V52Afs*58), 2023 37048064
1155 OMIA:002131-9685 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 OMIA:002131-9685 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
629 OMIA:000017-9986 rabbit Adrenal hyperplasia, congenital CYP11A1 deletion, gross (>20) Naturally occurring variant yes "a large deletion mutation in the P450scc gene" 1993 7682938
1751 OMIA:000017-8128 Nile tilapia Steroid hormone-deprived sex reversal, CYP11A1-related cyp11a1 deletion, gross (>20) Genome-editing (CRISPR-Cas9) yes 22 bp deletion in exon 4 2024 39284885
117 OMIA:001661-9685 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.
720 OMIA:000452-9031 chicken Campine (Chicken) Sebright Bantams, United Kingdom of Great Britain and Northern Ireland (Chicken) Henny feathering CYP19A1 insertion, gross (>20) Naturally occurring variant no GRCg6a 10 g.9683879_9683880insN[7524] The insertion is 7524bp and "contains an intact endogenous retrovirus that was not found in chickens representing 31 different breeds not showing henny feathering or in samples of the ancestral red junglefowl. The sequence shows over 99% sequence identity to the avian leukosis virus ev-1 and ev-21 strains, suggesting a recent integration. The ERV 3’LTR, containing a powerful transcriptional enhancer and core promoter with TATA box together with binding sites for EFIII and Ig/EBP inside the CYP19A1 5′ untranslated region" (Li et al., 2019) 1991 1939054 Genomic location and size of the insertion provided by Li et al. (2019)
274 OMIA:001405-9615 dog Beagle (Dog) Metabolizer of a cognitive enhancer CYP1A2 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 30 NC_006612.3:g.37821686C>T NM_001008720.1:c.1117C>T NP_001008720.1:p.(R373*) rs852922442 2004 15564884 Variant coordinates obtained from or confirmed by EBI's Variant Effect Predictor (VEP) tool
1251 OMIA:002288-9913 taurine cattle Hereford (Cattle) Mandibulofacial dysostosis CYP26C1 missense Naturally occurring variant yes ARS-UCD1.2 26 g.14404993T>C c.563T>G p.(L188P) ENSBTAT00000056396.3:c.563T>G; ENSBTAP00000050244.2:p.Leu188Arg rs431913023 2020 33105751
502 OMIA:000837-9685 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 OMIA:000837-9685 domestic cat Siamese (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; rs5334475145 2012 22553308 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
656 OMIA:000837-9823 pig Vitamin D-deficiency rickets, type I CYP27B1 deletion, gross (>20) Naturally occurring variant yes Sscrofa11.1 5 NM_213995.1:c.952_1124del the first of two deletions (173 bp or 329 bp) in the cDNA for cytochromome P450C1 (otherwise known as CYP27B1),  2003 12915218
657 OMIA:000837-9823 pig Vitamin D-deficiency rickets, type I CYP27B1 deletion, gross (>20) Naturally occurring variant yes Sscrofa11.1 5 NM_213995.1:c.952_1279del the second of two deletions (173 bp or 329 bp) in the cDNA for cytochromome P450C1 (otherwise known as CYP27B1) 2003 12915218
1576 OMIA:000837-9615 dog Pug (Dog) Vitamin D-deficiency rickets, type IA CYP27B1 nonsense (stop-gain) Naturally occurring variant yes UU_Cfam_GSD_1.0 10 NC_049231.1:g.2182971G>T XM_038549826.1:c.261C>A XP_038405754.1:p.(Y87*) XM_038549826.1; XP_038405754.1 2023 37293695
1411 OMIA:002508-9913 taurine cattle Simmental (Cattle) Haplotype with homozygous deficiency SH8 CYP2B6 SH8 missense Naturally occurring variant yes ARS-UCD1.3 18 NC_037345.1:g.50296371A>T NM_001075173.1:c.938T>A NP_001068641.1:p.(I313N) NM_001075173.1 rs5352006042 2021 34944310
1137 OMIA:002221-9685 domestic cat Domestic Shorthair Vitamin D-deficiency rickets, type Ib CYP2R1 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.
52 OMIA:002684-9615 dog Australian Cattle Dog (Dog) Shetland Sheepdog (Dog) 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
1743 OMIA:002894-10036 golden hamster Dcaf17 deficiency Dcaf17 deletion, small (<=20) Genome-editing (CRISPR-Cas9) yes BCM_Maur_2.0 NW_024429189.1:g.39589667_39589671del XM_040745545.1:c.71_75del XP_040601479.1:p.(D24Gfs*24) 2024 39239833
784 OMIA:001986-9823 pig Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation DCLRE1C splicing Naturally occurring variant yes Sscrofa11.1 10 NC_010452.4:g.46845535G>A XM_021063988.1:c.678+1G>A rs5334475180 2015 26320255
785 OMIA:001986-9823 pig Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation DCLRE1C nonsense (stop-gain) Naturally occurring variant yes Sscrofa11.1 10 NC_010452.4:g.46851262G>A XM_021063988.1:c.800G>A XP_020919647.1:p.(Trp267*) rs5334475181 2015 26320255
167 OMIA:000735-9796 horse Belgian Draft (Horse) Connemara Pony (Horse) Haflinger (Horse) Rocky Mountain, United States of America (Bighorn sheep) Welsh Pony (Horse) Ocular squamous cell carcinoma DDB2 missense Naturally occurring variant yes EquCab3.0 12 NC_009155.3:g.11726667C>T XM_023654000.1:c.1013C>T XP_023509768.1:p.(T338M) The EquCab2 coordinates, obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool, are g.11608667, c.1013C>T and p.T338M rs1139682898 2017 28425625 The EquCab3 g. coordinates were provided by by Meredith O’Connell, working under the guidance of Professor Ernie Bailey, 5 March 2019. Breed information updated based on PMID: 38600096
1624 OMIA:002582-9913 taurine cattle Japanese Black, Japan (Cattle) Hepatic fibrinogen storage disease DGKG missense Genome-editing (CRISPR-Cas9) yes ARS-UCD1.3 1 NC_037328.1:g.81082187C>T XM_002684869.5:c.2162C>T XP_002684915.3:p.T721I XM_002684869.5; XP_002684915.3 2023 37681469
1335 OMIA:002377-8845 swan goose Lion Head (Goose (domestic)) Sichuan White, China (Goose (domestic)) Knob, basal DIO2 missense Naturally occurring variant no AnsCyg_PRJNA183603_v1.0 NW_013185827.1 g.642923G>A p.(P265L) 2021 34193033
565 OMIA:002095-9615 dog Rhodesian Ridgeback (Dog) Epilepsy, generalized myoclonic, with photosensitivity DIRAS1 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 20 g.56474668_56474671del c.564_567del p.(D189Afs*11) XM_005633100.3; XP_005633157.1; published as DIRAS1:c.564_567delAGAC 2017 28223533 Genomic and protein coordinates in CanFam3.1 provided by Robert Kuhn
1412 OMIA:002505-9913 taurine cattle Simmental (Cattle) Haplotype with homozygous deficiency SH5 DIS3 SH5 insertion, small (<=20) Naturally occurring variant yes ARS-UCD1.2 12 g.47511687_47511687insT c.2032dup p.(I678N*2) NP_025000110.1, XM_025000110.1 2021 34944310
1308 OMIA:001484-9685 domestic cat Abyssinian (Cat) Burmese (Cat) Maine Coon (Cat) Oriental Shorthair (Cat) Ticked DKK4 Ti^CK missense Naturally occurring variant no Felis_catus_9.0 B1 g.42620835C>T c.53C>T p.(A18V) rs5334475164 2021 33780570 ENSFCAT00000034752:c.53C>T; XM_023252567.1:c53C>T
1307 OMIA:001484-9685 domestic cat Abyssinian (Cat) 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 rs785541575 2021 33780570 (XM_023252567.1; ENSFCAT00000034752: c.188G>A)
914 OMIA:001354-9940 sheep Rambouillet (Sheep) Muscular hypertrophy (double muscling), Callipyge DLK1 regulatory Naturally occurring variant unknown Oar_rambouillet_v1.0 18 g.66187430A>G "a single A/G polymorphism located at position 103,894 of GenBank AF354168 and position 267 of the GenBank STS AF401294" (Freking et al., 2002) "the CLPG mutation, an A to G transition in a highly conserved dodecamer motif located in the 90-Kb intergenic region separating the Delta-like 1 homologue (DLK1) and Gene trap locus 2 (GTL2) genes in the eponymous imprinted domain" (Xu et al., 2015; PubMed 26474044) In relation to the Oar_v4.0/oviAri4 genome assembly, the location of the causative SNP is OAR18:g.64294536A>G (Ross Tellam, pers. comm. to FN 5 Nov 2020) rs10721113 2002 12368241 The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager & Shernae Woolley, EMAI, NSW Department of Primary Industries.
615 OMIA:002109-9913 taurine cattle Brown Swiss (Cattle) Tricho-dento-osseous-like syndrome DLX3 insertion, small (<=20) Naturally occurring variant yes ARS-UCD1.2 19 g.36665831_36665832insGGAGCACA c.584_585insGGAGCACAGG p.(S198Rfs*99) NM_001081622 position is g.37298375_37298376insGGAGCACA rs5334475096 2017 28670783 The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.
728 OMIA:001919-9615 dog Nova Scotia Duck Tolling Retriever (Dog) Cleft palate 1 DLX6 insertion, gross (>20) Naturally occurring variant yes CanFam3.1 14 g.22068082_22068083insN[2056] "2056 bp insertion [including LINE1] . . within a highly conserved region of DLX6 intron 2 at cfa14.25016716"[CanFam2.0] 2014 24699068
922 OMIA:001081-9685 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 OMIA:001081-9685 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
1395 OMIA:001081-9823 pig Duchenne muscular dystrophy DMD DMD^ex52del delins, gross (>20) Transgenesis via somatic cell nuclear transfer (SCNT) yes X gene targeting and somatic cell nuclear transfer was used to replace DMD exon 52 with a neomycin resistance cassette 2013 23784375
680 OMIA:001081-9615 dog German Shorthaired Pointer (Dog) Muscular dystrophy, Duchenne type DMD deletion, gross (>20) Naturally occurring variant yes X a "deletion encompassing the entire dystrophin [DMD] gene" 1999 10407848
536 OMIA:001081-9615 dog Cocker Spaniel (Dog) 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
681 OMIA:001081-9615 dog Tibetan Terrier (Dog) Muscular dystrophy, Duchenne type DMD deletion, gross (>20) Naturally occurring variant yes X "a large deletion of exons 8-29" 2012 22218699
729 OMIA:001081-9615 dog Labrador Retriever (Dog) 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 Reference not in PubMed; see OMIA 001081-9615 for reference details
957 OMIA:001081-9615 dog Rottweiler (Dog) 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
989 OMIA:001081-9615 dog Poodle, Miniature (Dog) 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
562 OMIA:001081-9615 dog Cavalier King Charles Spaniel (Dog) Muscular dystrophy, Duchenne type DMD deletion, small (<=20) Naturally occurring variant yes CanFam3.1 X g.27442996_27443002del c.6057_6063del p.(N2021Pfs) NM_001003343.1; NP_001003343.1; published as c.6051_6057delTCTCAAT based on different transcript 2016 28028563
542 OMIA:001081-9615 dog Norfolk Terrier (Dog) Muscular dystrophy, Duchenne type DMD deletion, small (<=20) Naturally occurring variant yes CanFam3.1 X g.27606021del c.3084delG p.(G1029Nfs*30) 2015 26401335
1249 OMIA:001081-9615 dog Jack Russell Terrier (Dog) Duchenne-type muscular dystrophy DMD deletion, gross (>20) Naturally occurring variant yes CanFam3.1 X g.27615280_27982912del c.94-10346_2807-6207del XM_005641029.1 2020 33049940
1234 OMIA:001081-9615 dog Labrador Retriever (Dog) Labrador Retriever muscular dystrophy (LRMD) DMD inversion Naturally occurring variant yes CanFam3.1 X g.27622834_29823788inv c.-1490357_2626-947inv XM_005641029.1 2020 32767978
1235 OMIA:001081-9615 dog Border Collie (Dog) Muscular dystrophy, Duchenne DMD deletion, small (<=20) Naturally occurring variant yes CanFam3.1 X g.27626466del c.2841delT 2018 29843823
750 OMIA:001081-9615 dog Japanese Spitz (Dog) Muscular dystrophy, Duchenne type DMD inversion Naturally occurring variant yes CanFam3.1 X g.27631972_33069482inv c.-4736051_2384-5339inv XM_005641029.1; "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
708 OMIA:001081-9615 dog Pembroke Welsh Corgi (Dog) Muscular dystrophy, Duchenne type DMD insertion, gross (>20) Naturally occurring variant yes CanFam3.1 X g.27721607_27721608insN[(4800)] "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
1492 OMIA:001081-9615 dog Labrador Retriever (Dog) Muscular dystrophy, Duchenne type DMD duplication Naturally occurring variant yes CanFam3.1 X g.27851768_28247504dup Shelton et al. (2022): "chrX:27,851,768-27,852,122 bp position (Intron 7 . . .) and chrX:28,247,150-28,247,504 bp position (Intron 1 . . .)" 2022 36041985
367 OMIA:001081-9615 dog Cavalier King Charles Spaniel (Dog) Muscular dystrophy, Duchenne type DMD splicing Naturally occurring variant yes CanFam3.1 X NC_006621.3:g.26956239G>A NM_001003343.1:c.7294+5G>T NM_001003343.1; NP_001003343.1; experimentally confirmed splice defect; a single nucleotide variant in the 5'-splice site of intron 51 that results in skipping of exon 50 in mRNA transcripts and a predicted premature truncation of the translated protein 2010 20072625
1236 OMIA:001081-9615 dog Australian Labradoodle (Dog) Australian Labradoodle dystrophinopathy DMD nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 X NC_006621.3:g.27621845G>A NM_001003343.1:c.2668C>T NP_001003343.1:p.(R890*) NM_001003343.1; NP_001003343.1; "a C to T transition at base pair 43 in exon 21 of the dystrophin gene" (Shrader et al., 2018) 2018 30286978
366 OMIA:001081-9615 dog Golden Retriever (Dog) Muscular dystrophy, Duchenne type DMD splicing Naturally occurring variant yes CanFam3.1 X NC_006621.3:g.27926946T>C NM_001003343.1:c.531-2A>G NM_001003343.1; a point mutation in the consensus splice acceptor site in exon 6 , such that exon 7 is skipped rs1152388423 1992 1577476
1656 OMIA:001081-9685 domestic cat Domestic Shorthair Muscular dystrophy, Duchenne type DMD nonsense (stop-gain) Naturally occurring variant yes F.catus_Fca126_mat1.0 X g.27949145C>T c.4849C>T p.(Q1617*) XM_023249210.1 2024 38180235
1510 OMIA:001081-9685 domestic cat Maine Coon (Cat) Muscular dystrophy, Duchenne type DMD nonsense (stop-gain) Naturally occurring variant yes F.catus_Fca126_mat1.0 X g.28208148G>A c.1180C>T p.(R394*) XM_045050794.1; XP_044906729.1 2022 36359052
1531 OMIA:001888-9685 domestic cat Maine Coon (Cat) Becker muscular dystrophy DMD missense Naturally occurring variant yes F.catus_Fca126_mat1.0 X NC_058386.1:g.27988938G>A XM_045050787.1:c.4186C>T XP_044906722.1:p.(H1396Y) 2023 36834603
1684 OMIA:001888-9685 domestic cat Kinkalow (Cat) Muscular dystrophy, X-linked DMD nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 X NC_018741.3:g.27350268G>A XM_023249210.1:c.8467C>T XP_023104978.1:p.(Q2823*) likely de novo mutation reported in a single cat 2024 38613437
1667 OMIA:001888-9685 domestic cat Domestic Shorthair Muscular dystrophy, X-linked DMD nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 X NC_018741.3:g.27361452C>T XM_023249210.1:c.8333G>A XP_023104978.1:p.(W2778*) F.catus_Fca126_mat1.0 coordinates are g.27110574G>A 2024 38415938
1714 OMIA:001081-9615 dog Border Collie (Dog) Muscular dystrophy, X-linked DMD insertion, gross (>20) Naturally occurring variant unknown ROS_Cfam_1.0 X NC_051843.1:g.26431863_26431864insN[162] NM_001003343.1:c.9271_9272insN[162] NP_001003343.1:p.(Ala3091fs*21) likely de-novo variant present in a single affected dog 2024 39152696
1457 OMIA:001888-9823 pig Becker muscular dystrophy DMD insertion, gross (>20) Naturally occurring variant yes Sscrofa11.1 X Aihara et al. (2022): "Analysis of dystrophin mRNA showed a 62 base pair insertion between exons 26 and 27. The insertion was derived from intron 26." 2022 35220848
179 OMIA:001685-9823 OMIA:001888-9823 pig Stress syndrome DMD missense Naturally occurring variant yes Sscrofa11.1 X g.28309227G>A c.5872C>T p.(R1958W) Ensembl VEP was used to identify cDNA position in transcript ENSSSCT00000089893.1, SIFT score 0.01 rs196952080 2012 22691118
1615 OMIA:001081-9615 dog Brittany Spaniel (Dog) Muscular dystrophy, Duchenne DMD insertion, gross (>20) Naturally occurring variant yes UU_Cfam_GSD_1.0 X RSPYR1 retrogene insertion in intron 20; reported in a single dog; reported in a single dog 2023 37628610
1616 OMIA:001081-9615 dog French Bulldog (Dog) Muscular dystrophy, Duchenne DMD insertion, small (<=20) Naturally occurring variant yes UU_Cfam_GSD_1.0 X g.27774668_27774669insT c.3371_3372insA p.(F1125fs) NM_001003343.1; NP_001003343.1; published as p.(F1125*), reported in a single dog 2023 37628610
1614 OMIA:001081-9615 dog Brittany Spaniel (Dog) Muscular dystrophy, Duchenne DMD nonsense (stop-gain) Naturally occurring variant yes UU_Cfam_GSD_1.0 X NC_049260.1:g.26939052G>A NM_001003343.1:c.8059C>T NP_001003343.1:p.(Q2687*) NM_001003343.1; NP_001003343.1; reported in 2 related dogs 2023 37628610
1744 OMIA:001081-9615 dog Entlebucher Mountain Dog (Dog) Muscular dystrophy, Duchenne type DMD duplication Naturally occurring variant yes UU_Cfam_GSD_1.0 X NC_049260.1:g.27027497_27,036112dup8616 NM_001003343.1:c.7528-4048_7645+4450dup NP_001003343.1:p.(I2549Sfs*3) 2024 39307576
908 OMIA:001542-9940 sheep Corriedale (Sheep) Hypophosphatemic rickets, autosomal recessive, 1 DMP1 nonsense (stop-gain) Naturally occurring variant yes Oar_rambouillet_v1.0 6 NC_040257.1:g.112910614C>T XM_012180327.3:c.433C>T XP_012035717.1:p.(R145*) Published as g.112213795C>T / c.250C>T. Protein and cDNA positions in this table are based on XP_012035717.1 and XM_012180327.3. 2011 21747952 The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.
321 OMIA:001715-9796 horse American Trotter (Horse) Bhotia Pony, India (Horse) Chakouyi, China (Horse) French Trotter (Horse) Icelandic Horse (Horse) Kentucky Mountain Saddle, United States of America (Horse) Missouri Fox Trotting Horse (Horse) Morgan (Horse) Paso Fino (Horse) Peruvian Paso (Horse) Quarter Horse (Horse) Rocky Mountain Horse (Horse) Scandinavian Coldblood Trotter (Horse) Spiti Pony, India (Horse) Tennessee Walking Horse (Horse) Thoroughbred (Horse) Zaniskari Pony (Horse) Gaitedness DMRT3 nonsense (stop-gain) Naturally occurring variant no EquCab3.0 23 NC_009166.3:g.22391254C>A NM_001317265.1:c.902C>A NP_001304194.1:p.(S301*) rs1150690013 2012 22932389 Breed information updated based PMID:39571791 on PMID:38600096 and PMID:37149793
1352 OMIA:002442-9823 pig Large White (Pig) Sperm flagella defect DNAH17 deletion, small (<=20) Naturally occurring variant yes Sscrofa11.1 12 NC_010454.4:g.3556402_3556414del Nosková et al. (2021): "intronic 13-bp deletion ... causes exon skipping which results in the in-frame loss of 89 amino acids from DNAH17" rs5334475172 2021 33724408
1687 OMIA:002847-9615 dog Portuguese Water Dog (Dog) Microphthalmos with hematopoietic defects, congenital DNAJC21 insertion, gross (>20) Naturally occurring variant yes UU_Cfam_GSD_1.0 4 NC_049225.1:g.74274883ins[T70]TGCTGCTTGGATT 2024 38682429
39 OMIA:001466-9615 dog Boykin Spaniel (Dog) Chesapeake Bay Retriever (Dog) Curly Coated Retriever (Dog) Labrador Retriever (Dog) Pembroke Welsh Corgi (Dog) Exercise-induced collapse DNM1 missense Naturally occurring variant yes CanFam3.1 9 NC_006591.3:g.55282762C>A NM_001131049.1:c.767G>T XP_001124521.1:p.(R256L) ROS_Cfam_1.0:g.56204742C>A ENSCAFT00845051951.1:c.767G>T ENSCAFP00845040760.1:p.Arg256Leu rs852832685 2008 18806795 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1434 OMIA:002534-9615 dog Border Collie (Dog) Centronuclear myopathy 1 DNM2 missense Naturally occurring variant yes CanFam3.1 20 NC_006602.3:g.50423497G>A XM_005632882.3:c.1393C>T XP_005632939.1.:p.(R465W) XM_005632882.3; XP_005632939.1. 2022 35244154
125 OMIA:001776-9685 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.
1194 OMIA:002266-9615 dog Rottweiler (Dog) Hyperkeratosis, palmoplantar, DSG1-related DSG1 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 7 g.58163636_58163640del c.2541_2545del p.(G848Wfs*2) NM_001002939.1; NP_001002939.1; published as c.2541_2545delGGGCT 2020 32344723
1392 OMIA:002452-9685 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 OMIA:002452-9685 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
1408 OMIA:002243-9913 taurine cattle Highland (Cattle) Ichthyosis, DSP-related DSP missense Naturally occurring variant yes ARS-UCD1.3 23 NC_037350.1:g.47826600G>T NM_001192368.2:c.6893C>A NP_001179297.1:p.(A2298D) NM_001192368.2; NP_001179297.1 rs5385033307 2022 34996433
1710 OMIA:002243-9615 dog Poodle, Miniature (Dog) Ichthyosis, syndromic DSP deletion, small (<=20) Naturally occurring variant unknown UU_Cfam_GSD_1.0 35 NC_049256.1:g.8804542_8804544del XM_038584124.1:c.1821_1823del XP_038440052.1:p.(N608del) de novo variant in one dog 2024 39136317
1115 OMIA:002210-9823 pig Bama Xiang Zhu, China (Pig) Congenital hypothyroidosis DUOX2 missense Naturally occurring variant yes Sscrofa11.1 1 NC_010443.5:g.126625620A>G NM_213999.2:c.1226A>G NP_999164.2:p.(D409G) ENU mutagenesis was used to create these pigs, the mutation is located within an exonic splicing enhancer motif and causes aberrant splicing of DUOX2 transcripts (Cao et al., 2019) rs5334475175 2019 30651277
1056 OMIA:002186-9615 dog Boston Terrier (Dog) Bulldog (Dog) French Bulldog (Dog) Screw tail DVL2 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 5 g.32195051del c.2051del p.(P684Lfs*26) XM_005619960.3; XP_005620017.1; published as g.32195043_32195044del; c.2044delC and changed to HGVS nomenclature in this table 2018 30521570
1739 OMIA:000543-103695 central bearded dragon Scaleless EDA Sca deletion, gross (>20) Naturally occurring variant unknown "in-frame deletion of 14 amino acids in a highly conserved tumor necrosis factor (TNF) motif of the EDA protein" 2016 28439533
711 OMIA:000543-9913 taurine cattle Danish Holstein (Cattle) Anhidrotic ectodermal dysplasia EDA HED6 insertion, gross (>20) Naturally occurring variant yes X "a LINE1-derived pseudoexon between EDA exons 1 and 2. The 161-bp-long pseudoexon introduces a shift in reading frame and a premature stop codon early in EDA exon 2" 2011 22034998 Allele id was copied from Table 1 of Capuzzello et al. (2022)
645 OMIA:000543-9913 taurine cattle Deutsche Holstein Schwarzbunt, Germany (Cattle) Anhidrotic ectodermal dysplasia EDA HED1 deletion, gross (>20) Naturally occurring variant yes X c.397_502del p.(M133Vfs*111) a large deletion including exon 3 in the gene for ectodysplasin (ED1; now called EDA) 200922: g. info moved to here (g.85821470) until it can be standardised 2001 11591646 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446 Allele id and p. information were copied from Table 1 of Capuzzello et al. (2022)
1120 OMIA:000543-9913 taurine cattle Holstein Friesian (Cattle) Generalized hypohidrotic ectodermal dysplasia EDA HED8 inversion Naturally occurring variant yes ARS-UCD1.2 X g.77174882_80737442inv Escouflaire et al. (2019): The "first breakpoint . . . [is] between positions 82,271,052 and 82,271,053 bp on chromosome X . . . The second breakpoint is situated at position 86,034,441 bp within the EDA intron 1" 2019 31533624 Allele id was copied from Table 1 of Capuzzello et al. (2022).
1293 OMIA:000543-9913 taurine cattle Red Angus-Simmental cross Hypohidrotic ectodermal dysplasia EDA HED9 deletion, gross (>20) Naturally occurring variant yes ARS-UCD1.2 X g.80382423_80435202del GCF_002263795.1 (O'Toole et al., 2021) 2021 33801223 Allele id was copied from Table 1 of Capuzzello et al. (2022).
1484 OMIA:000543-9913 taurine cattle British Blue x Holstein-Friesian cross Anhidrotic ectodermal dysplasia, EDA-related EDA HED10 deletion, gross (>20) Naturally occurring variant yes ARS-UCD1.2 X g.80516615_80538514del c.397_502del p.(M133Vfs*111) NM_001081743.2; NP_001075212.1 2022 36068608 Allele id was copied from Table 1 of Capuzzello et al. (2022).
586 OMIA:000543-9913 taurine cattle Japanese Black, Japan (Cattle) Anhidrotic ectodermal dysplasia EDA HED7 insertion, small (<=20) Naturally occurring variant yes ARS-UCD1.2 X g.80802800_80802801insCCCT c.280_281insAGGG p.(G94Qfs*49) rs5334475024 2012 22497423 The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries. Allele id was copied from Table 1 of Capuzzello et al. (2022).
1665 OMIA:000543-9913 taurine cattle Fleckvieh-Simmental, Germany (Cattle) Hypohidrotic ectodermal dysplasia, X-linked EDA missense Naturally occurring variant yes ARS-UCD1.3 X g.80417567C>T c.679G>A p.(G227R) NM_001081743.2; NP_001075212.1; published as g.85716041G>A in ARS-UCD2.0 rs1114816375 2023 38275590
373 OMIA:000543-9913 taurine cattle Deutsche Holstein Schwarzbunt, Germany (Cattle) Anhidrotic ectodermal dysplasia EDA HED2 splicing Naturally occurring variant yes ARS-UCD1.3 X NC_037357.1:g.80411671A>C NM_001081743.2:c.924+2T>G c.DNA position is based on NM_001081743.2 rs5334474632 2002 12021844 The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries. Allele id was copied from Table 1 of Capuzzello et al. (2022)
1661 OMIA:000543-9913 taurine cattle Limousin (Cattle) Hypohidrotic ectodermal dysplasia, X-linked EDA HED11 missense Naturally occurring variant yes ARS-UCD1.3 X NC_037357.1:g.80411716T>C NM_001081743.2:c.881A>G NP_001075212.1:p.(E294G) NM_001081743.2; NP_001075212.1 rs439722471 2024 38252617
1295 OMIA:000543-9913 taurine cattle Holstein Friesian (Cattle) Anhidrotic ectodermal dysplasia EDA HED5 splicing Naturally occurring variant yes ARS-UCD1.3 X NC_037357.1:g.80411795C>A NM_001081743.2:c.802C>A "a single nucleotide polymorphism (SNP) G/A at the 9th base of exon 8 [GenBank: AJ278907.1 position 30.549] ... Sequencing of the RT-PCR products revealed that the amplified fragment of the affected animals lacked ... exon 8. At the protein level, the exon skipping leads to a frameshift and consequently to a premature stop codon." (Gargani et al., 2011) rs5334475058 2011 21740563 Allele id and c. information were copied from Table 1 of Capuzzello et al. (2022)
1294 OMIA:000543-9913 taurine cattle Red Angus-Charolais-Simmental cross Anhidrotic ectodermal dysplasia EDA HED3 nonsense (stop-gain) Naturally occurring variant yes ARS-UCD1.3 X NC_037357.1:g.80415626G>A NM_001081743.2:c.730C>T NP_001075212.1:p.(R244*) rs5334474792 2007 17616058 Reference not in PubMed; see OMIA 000543-9913 for reference details The g. coordinate for the named reference genome assembly, together with the c. coordinate, were kindly provided by Tosso Leeb (22 March 2021). Allele id was copied from Table 1 of Capuzzello et al. (2022).
482 OMIA:000543-9913 taurine cattle Holstein Friesian (Cattle) Anhidrotic ectodermal dysplasia EDA HED4 deletion, small (<=20) Naturally occurring variant yes ARS-UCD1.3 X NC_037357.1:g.80803015_80803033del NM_001081743.2:c.48_66del NP_001075212.1:p.(A16S22fs*55) "a 19-bp deletion at nucleotides c.48_66 in exon 1 ... . This mutation is predicted to generate a truncated 49 aa protein." rs5334474984 2011 21410470 Allele id and p. information were copied from Table 1 of Capuzzello et al. (2022)
1458 OMIA:000543-9615 dog Mixed Breed (Dog) X-linked hypohidrotic ectodermal dysplasia EDA splicing Naturally occurring variant yes CanFam3.1 X r.385_487del p.M129fs*112 NM_001014770.2; NP_001014770.1; EDA transcript lacks 103 nucleotides encoded by exon 2, exon skipping is likely to be caused by an intronic splice variant 2016 27449516
1017 OMIA:000543-9615 dog Dachshund (Dog) 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
361 OMIA:000543-9615 dog German Shepherd Dog (Dog) Anhidrotic ectodermal dysplasia EDA splicing Naturally occurring variant yes CanFam3.1 X NC_006621.3:g.54511433G>A NM_001014770.2:c.910-1G>A NM_001014770.2 rs1152388425 2005 16151697 Genomic coordinates in CanFam3.1 und EVA Id provided by Zoe Shmidt and Robert Kuhn.
1705 OMIA:000543-9685 domestic cat Domestic Shorthair Hypohidrotic ectodermal dysplasia EDA missense Naturally occurring variant yes F.catus_Fca126_mat1.0 X NC_058386.1:g.57148944G>A XM_011291781.3:c.1042G>A XP_011290083.1:p.(A348T) reported in a single cat 2024 39062633
724 OMIA:001695-8090 Japanese medaka Reduced scale-3 edar insertion, gross (>20) Naturally occurring variant yes "several kb of extra sequence in the 5' UTR that . . . contains out-of-frame start codons and stop codons, [and consequently] the mutant transcript is likely to result in premature initiation and termination of translation and, as a result, the EDAR protein is not synthesized" 2001 11516953
843 OMIA:002128-9913 taurine cattle Charolais (Cattle) Anhidrotic ectodermal dysplasia, EDAR-related EDAR insertion, small (<=20) Naturally occurring variant yes ARS-UCD1.2 11 g.44599876_44599877insC p.(P161Rfs*97) UMD3.1 position is g.44462236_44462237insC 2017 28904385 The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.
1550 OMIA:002687-9940 sheep Fleece variation, wool density EDAR regulatory Naturally occurring variant no Oar_v4.0 3 g.61927840T>C the T allele is associated denser wool production in fine wool sheep rs408766096 2024 37137429
1738 OMIA:002887-94885 corn snake Scaleless EDARADD scl deletion, small (<=20) Naturally occurring variant unknown UNIGE_PanGut_3.0 Super-Scaffold_423 NW_023010793.1:g.39572203_39572204del XM_034428296.1:c.545_546del XP_034284187.1:p.C182* 2023 37315141
1474 OMIA:002560-9913 taurine cattle Lidia, Spain (Cattle) Growth and respiratory lethal syndrome EDN2 missense Naturally occurring variant yes ARS-UCD1.2 3 g.104701617G>A c.149G>A p.(C50Y) ENSBTAG00000021434; ENSBTAT00000028571.3 2022 35912509
1747 OMIA:002901-8296 axolotl Skin colour, white EDN3 d not known no cDNA from animals with the white phenotype lack exon 2 2017 28127056
722 OMIA:001671-9031 chicken Bohuslän - Dals svarthöna, Sweden (Chicken) H'mong, Viet Nam (Chicken) Kedu, Indonesia (Chicken) Silkie (Chicken) Silky/Silkie pigmentation (Fibromelanosis) EDN3 FM complex rearrangement Naturally occurring variant no 20 the FM mutation actually involves "the duplication of two genomic regions, each larger than 100 kb and separated by 417 kb on wild-type [GGA20] chromosomes" 2011 22216010
760 OMIA:002164-9925 goat Coat colour, white spotting, EDNRA-related EDNRA repeat variation Naturally occurring variant no 17 "a 1Mb copy number variant (CNV) harboring 5 genes including EDNRA. The analysis of 358 Boer goats revealed 3 alleles with one, two, and three copies of this CNV. The copy number is correlated with the degree of white spotting in goats" 2016 27329507
160 OMIA:000629-9796 horse American Paint (Horse) Miniature Horse (Horse) Quarter Horse (Horse) Thoroughbred (Horse) Megacolon EDNRB frame overo delins, small (<=20) Naturally occurring variant yes EquCab3.0 17 NC_009160.3:g.50503041_50503042delinsCT NM_001081837.2:c.353_354delinsAG NP_001075306.2:p.(I118K) NM_001081837.2; NP_001075306.2 1998 9530628
930 OMIA:001765-9940 sheep West African Dwarf (Sheep) Waardenburg syndrome, type 4A EDNRB deletion, gross (>20) Naturally occurring variant yes Oar_rambouillet_v1.0 10 "a deletion of about 110 kb on sheep chromosome [OAR]10, comprising the entire EDNRB gene" 2012 23300849
1632 OMIA:000375-8932 rock pigeon Piebald EDNRB2 Group 4 duplication Naturally occurring variant yes tandem duplication of a 37-kb region spanning from intron 1 of VAMP7 to just 5’ of EDNRB2 2023 37546953
1631 OMIA:000375-8932 rock pigeon Piebald EDNRB2 Group2 missense Naturally occurring variant yes p.(A42E) 2023 37546953
1630 OMIA:000375-8932 rock pigeon Piebald EDNRB2 Group1 missense Naturally occurring variant yes p.(R290C) 2023 37546953
1562 OMIA:002701-51751 ball python Skin colour, EDNRB2-related EDNRB2 yellowbelly deletion, small (<=20) Naturally occurring variant unknown c.1646del OP589186.1; 1-bp deletion introduces a frameshift, which removes or alters three of the seven transmembrane helices 2023 37191439
1563 OMIA:002701-51751 ball python Skin colour, EDNRB2-related EDNRB2 yellowbelly deletion, small (<=20) Naturally occurring variant unknown c.1747_1763del OP589186.1; "17-bp deletion introduces a frameshift into the transcript, which removes or alters two of the seven transmembrane helices" 2023 37191439
1564 OMIA:002701-51751 ball python Skin colour, EDNRB2-related EDNRB2 specter missense Naturally occurring variant unknown c.2601G>C p.(R315P) OP589186.1 2023 37191439
1567 OMIA:002701-51751 ball python Skin colour, EDNRB2-related EDNRB2 asphalt splicing Naturally occurring variant unknown c.3118G>A OP589186.1; G-to-A substitution in the sixth splice donor for the sixth intron 2023 37191439
1565 OMIA:002701-51751 ball python Skin colour, EDNRB2-related EDNRB2 spark missense Naturally occurring variant unknown c.481G>C p.(L152F) OP589186.1 2023 37191439
1566 OMIA:002701-51751 ball python Skin colour, EDNRB2-related EDNRB2 gravel splicing Naturally occurring variant unknown c.499G>A OP589186.1; G-to-A substitution at the splice donor for the first intron 2023 37191439
257 OMIA:000375-93934 Japanese quail Feather colour, panda/dotted white EDNRB2 missense Naturally occurring variant no c.995G>A p.(R332H) 2007 17313575
1633 OMIA:001252-8932 rock pigeon Recessive white and bull eye EDNRB2 missense Naturally occurring variant no 4A g.11167700C>T c.766G>A p.(E256K) 2023 37546953
1164 OMIA:001252-8843 domestic goose Gang, China (Goose (domestic)) Feather colour, recessive white EDNRB2 insertion, small (<=20) Naturally occurring variant no AnsCyg_PRJNA183603_v1.0 NW_013185915.1:g.750748_750735insCACAGGTGAGCTCT 2020 32066369
16 OMIA:001904-9031 chicken Feather colour, recessive white EDNRB2 mo^w missense Naturally occurring variant no GRCg6a 4 g.11164302G>T c.731G>T p.(C244F) NM_204120.1; NP_989451.1; published as c.1008G>T and p.(C244F); coordinates in the table have been updated to a recent reference genome and / or transcript 2014 24466053 Genomic position in GRCg6a provided by Joshua Khamis.
17 OMIA:001904-9031 chicken Feather colour, mottled EDNRB2 mo missense Naturally occurring variant no GRCg6a 4 g.11166001G>A c.999G>A p.(R332H) NM_204120.1; NP_989451.1; published as c.1272G>A and p.(R332H); coordinates in the table have been updated to a recent reference genome and / or transcript 2014 24466053 Genomic position in GRCg6a provided by Joshua Khamis.
1481 OMIA:002564-9615 dog English Springer Spaniel (Dog) Dyserythropoietic anemia and myopathy syndrome (DAMS) EHBP1L1 deletion, small (<=20) Naturally occurring variant yes UU_Cfam_GSD_1.0 18 g.52123541delG c.3120delC p.(F1041Sfs*30) XM_038563927.1; XP_038419855.1 2022 36140701
1483 OMIA:002564-9615 dog Labrador Retriever (Dog) Congenital dyserythropoietic anemia and polymyopathy EHBP1L1 nonsense (stop-gain) Naturally occurring variant yes UU_Cfam_GSD_1.0 18 NC_049239.1:g.52128140G>A XM_038563927.1:c.388C>T XP_038419855.1:p.(R130*) XM_038563927.1; 2022 36011338
1753 OMIA:002904-9913 taurine cattle Angus (Cattle) Male subfertility, EML5-related EML5 missense Naturally occurring variant yes ARS-UCD1.3 10 NC_037337.1:g.100310158G>A NM_001206576.1:c.4960C>T NP_001193505.1:p.(R1654W) rs380547429 2022 35478957
452 OMIA:001805-9615 dog It