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467 variant records found

[show instead phene records]

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

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

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

OMIA Variant ID OMIA Phene-Species ID(s) Species Name Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Deleterious? Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1050 OMIA002179-9615 dog Labrador Retriever Stargardt disease 1 ABCA4 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 6 g.55146556dup c.4176dup p.(F1393Lfs*3) Mäkeläinen et al. (2019): "ENSCAFT00000005367 exon28 4170dupC* V1390fs" Importantly, the same authors also explain in Table S3 that "*The insertion is found in a cytosine mononucleotide-repeat region [55,146,550–55,146,556] and it is arbitrary at what position the actual insertion occurs. In the text we have denoted the insertion as c.4176insC, p.F1393Lfs*1395)." Variant information changed to reflect HGVS nomenclature 2019 30889179
607 OMIA001402-9615 dog Border Collie Adverse reaction to certain drugs ABCB1 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 14 CanFam3.1 published as c.73insAAT - allele is reflected by the reference sequence CanFam3.1 and NM_001003215.2 as reference: g.13737172_13737174; c.73_75, p.N25 2010 21113104
469 OMIA001402-9615 dog Australian Shepherd Border Collie Collie German Shepherd Dog Longhaired whippet Miniature Australian shepherd Old English Sheepdog Shetland Sheepdog Silken windhound Waller White Swiss shepherd Adverse reaction to certain drugs ABCB1 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 14 g.13726596_13726599del c.228_231del p.(D77Afs*16) NM_001003215.2; NP_001003215.2 2001 11692082 Variant information gleaned from or confirmed by Donner et al. (2016) PLoS One 11:e0161005
442 OMIA001402-9615 dog Border Collie Adverse reaction to certain drugs ABCB1 regulatory Naturally occurring variant no CanFam3.1 14 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 rs852787132 2011 21488961 Genomic coordinates in CanFam3.1 and EVA ID provided by Zoe Shmidt and Robert Kuhn.
572 OMIA001524-9615 dog Shetland Sheepdog Gallbladder mucoceles ABCB4 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 14 g.13584928_13584929insC c.1660_1661insG p.(L554Rfs) XM_539403.6; XP_539403.3; published as c.1583_1584G 2010 20598156
1388 OMIA002368-9615 dog Golden Retriever 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 2021 34791225
972 OMIA002140-9615 dog German Hunting Terrier Exercise induced metabolic myopathy ACADVL nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 5 g.32193689C>A c.1728C>A p.(Y576*) XM_546581.5; XP_546581.3 2018 29491033
1045 OMIA002177-9615 dog Akita American Akita 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
1259 OMIA002226-9615 dog Australian Kelpie Intestinal lipid malabsorption ACSL5 deletion, gross (>20) Naturally occurring variant yes CanFam3.1 28 g.23380074_23483377del NC_006610.3CFA28:g.23380074_23483377del (O/Brien et al., 2020) 2020 33106515
633 OMIA001520-9615 dog Glen of Imaal Terrier Cone-rod dystrophy 3 ADAM9 deletion, gross (>20) Naturally occurring variant yes 16 "a deletion of exons 15 and 16 which alters the reading frame leading to a premature stop codon" in the ADAM9 gene 2010 20691256
43 OMIA001870-9615 dog Beagle Glaucoma, primary open angle ADAMTS10 missense Naturally occurring variant yes CanFam3.1 20 g.53096339C>T c.1981G>A p.(G661R) XM_849227.3; XP_854320.1 2011 21379321
101 OMIA001870-9615 dog Norwegian Elkhound Glaucoma, primary open angle ADAMTS10 missense Naturally occurring variant yes CanFam3.1 20 g.53101896C>T c.1159G>A p.(A387T) XM_849227.3; XP_854320.1 2014 25372548 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
685 OMIA001976-9615 dog Basset Hound 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
365 OMIA000588-9615 dog Jack Russell Terrier Lancashire heeler Miniature Bull Terrier Lens luxation ADAMTS17 splicing Naturally occurring variant yes CanFam3.1 3 g.40782144G>A c.1473+1G>A XM_022416850.1 rs1152388408 rs1152388408 2010 20375329 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
96 OMIA001976-9615 dog Basset Fauve de Bretagne Glaucoma, primary open angle, ADAMTS17-related ADAMTS17 missense Naturally occurring variant yes CanFam3.1 3 g.40808345G>A c.1552G>A p.(G518S) XM_022416851.1; XP_022272559.1 2015 26474315 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1086 OMIA001976-9615 dog Petit Basset Griffon Vendéen 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 OMIA000588-9615 OMIA001976-9615 dog Chinese Shar-Pei Primary open-angle glaucoma (POAG), primary lens luxation (PLL), or both ADAMTS17 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 3 g.40935387_40935392del c.3069_3074del p.(V1024_V1025del) XM_014112382.2; XP_013967857.1; published as c.3070_3075delCGTGGT; p.(V1025_V1026del) 2018 29287154
1117 OMIA000328-9615 dog Doberman Pinscher Ehlers-Danlos syndrome, type VII (Dermatosparaxis) ADAMTS2 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 11 g.2408978C>T c.769C>T p.(R257*) 2019 31294848
537 OMIA001140-9615 dog Nova Scotia Duck Tolling retriever Cleft lip with or without cleft palate ADAMTS20 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 27 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.
1084 OMIA001893-9615 dog Norwich Terrier Upper airway syndrome ADAMTS3 missense Naturally occurring variant yes CanFam3.1 13 g.61287796G>A c.2786G>A p.(R929H) 2019 31095560
60 OMIA001509-9615 dog Beagle Musladin-Lueke syndrome ADAMTSL2 missense Naturally occurring variant yes CanFam3.1 9 g.49931561C>T c.661C>T p.(R221C) 2010 20862248 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
466 OMIA001577-9615 dog Curly-coated retriever 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
75 OMIA001672-9615 dog Coton de Tulear Primary hyperoxaluria type I (Oxalosis I) AGXT missense Naturally occurring variant yes CanFam3.1 25 g.50968854G>A c.304G>A p.(G102S) XP_003639939.1:p.Gly102Ser rs397510072 rs397510072 2012 22486513 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1094 OMIA002205-9615 dog Rough Collie Recurrent inflammatory pulmonary disease AKNA deletion, small (<=20) Naturally occurring variant yes CanFam3.1 11 g.68576241_68576244del c.2717_2720delACAG p.(D906Afs*173) XM_014117950.2: c.2717_2720delACAG; XP_013973425.1:p.(Asp906Alafs*173) 2019 31357536
1240 OMIA002250-9615 dog Saluki Succinic Semialdehyde Dehydrogenase Deficiency ALDH5A1 missense Naturally occurring variant yes CanFam3.1 35 g.22572768G>A c.866G>A p.(G288D) XM_014110599.2: c.866G>A; XP_013966074.2: p.(Gly288Asp) (Vernau et al., 2020) 2020 32887425
1021 OMIA002162-9615 dog Karelian bear dog Hypophosphatasia ALPL missense Naturally occurring variant yes CanFam3.1 2 g.77561953A>C c.1301T>G p.(V434G) XM_005617214.3; XP_005617271.1 2019 30700765
1129 OMIA001868-9615 dog Siberian Husky Blue eyes ALX4 duplication Naturally occurring variant no CanFam3.1 18 g.44791414_44890185dup Deane-Coe et al. (2018): "a 98.6-kb duplication directly upstream of the Homeobox gene ALX4" 2018 30286082 g. coordinates kindly provided by Anna Letko and Cord Drögemüller (7th Oct 2019)
280 OMIA000791-9615 dog Miniature Schnauzer Persistent Mullerian duct syndrome AMHR2 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 27 g.1794738G>A c.262C>T 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 OMIA000565-9615 dog Giant Schnauzer 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 OMIA000565-9615 dog Australian Shepherd Intestinal cobalamin malabsorption, AMN-related AMN start-lost Naturally occurring variant yes ROS_Cfam_1.0 8 g.71077084G>A c.3G>A p.(M1?) NM_001002960.1; NP_001002960.1 2005 15845892
353 OMIA002539-9615 dog Dalmatian Respiratory distress syndrome ANLN nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 14 g.47812143C>T c.31C>T p.(R11*) 2017 28222102 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
422 OMIA001353-9615 dog German Shepherd Dog Platelet receptor for factor X, deficiency of ANO6 splicing Naturally occurring variant yes CanFam3.1 27 g.8912219C>T c.1934+1G>A XM_005636953.1 2015 26414452 Variant coordinates obtained from or confirmed by EBI's Variant Effect Predictor (VEP) tool
580 OMIA000248-9615 dog Collie 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) 2003 12897784
1206 OMIA001916-9615 dog Jack Russell Terrier Familial Adenomatous Polyposis APC delins, small (<=20) Naturally occurring variant yes CanFam3.1 3 g.312131_312132delinsAA c.[462_463delinsTT] p.(K155X) XM_014111995.2; XP_013967470.1 2020 32445578 Reference assembly and genomic location kindly provided by Kyoko Yoshizaki, 17 Dec 2020
960 OMIA001917-9615 dog Leonberger Saint Bernard 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
56 OMIA000666-9615 dog Miniature Schnauzer 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 OMIA000666-9615 dog Miniature Poodle Mucopolysaccharidosis VI ARSB deletion, gross (>20) Naturally occurring variant yes CanFam3.1 3 g.27870253_27870274del c.103_124del p.(A35Gfs*108) NM_001048133.1; NP_001041598.1 2012 22329490 Variant information initially provided by Karthik Raj and Urs Giger
859 OMIA000666-9615 dog Great Dane Mucopolysaccharidosis VI ARSB nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 3 g.27870445C>T c.295C>T p.(Q99*) 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 OMIA000666-9615 dog Miniature Pinscher Mucopolysaccharidosis VI ARSB missense Naturally occurring variant yes CanFam3.1 3 g.27950471G>A c.910G>A p.(G304R) NM_001048133.1; NP_001041598.1 2020 32985704 g. coordinate kindly provided by Karthik Raj 29 Oct 2020
67 OMIA001503-9615 dog American Staffordshire Terrier Neuronal ceroid lipofuscinosis, 4A ARSG missense Naturally occurring variant yes CanFam3.1 9 g.15071276G>A c.296G>A p.(R99H) 2010 20679209 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1382 OMIA000201-9615 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 OMIA000201-9615 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
30 OMIA000201-9615 dog German Shepherd Dog Recessive black ASIP missense Naturally occurring variant no CanFam3.1 24 g.23393552C>T c.286C>T p.(R96C) rs851336386 rs851336386 2004 15520882 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1385 OMIA000201-9615 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 OMIA000201-9615 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 OMIA000201-9615 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 OMIA000201-9615 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 OMIA000201-9615 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
111 OMIA002099-9615 dog German Shepherd Dog Ichthyosis, ASPRV1-related ASPRV1 missense Naturally occurring variant yes CanFam3.1 10 g.68587027A>G c.1052T>C p.(L351P) XM_014117456.1; XP_013972931.1 2017 28249031 Genomic position in CanFam3.1 provided by Robert Kuhn and Mateo Etcheveste.
65 OMIA001471-9615 dog Standard Poodle Neonatal encephalopathy with seizures ATF2 missense Naturally occurring variant yes CanFam3.1 36 g.19078954A>C c.152T>G p.(M51R) 2008 18074159 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
94 OMIA001954-9615 dog Lagotto Romagnolo Neurodegenerative vacuolar storage disease ATG4D missense Naturally occurring variant yes CanFam3.1 20 g.50618958C>T c.1288G>A p.(A430T) 2015 25875846 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1067 OMIA001552-9615 dog Australian Cattle Dog Neuronal ceroid lipofuscinosis, 12 ATP13A2 missense Naturally occurring variant yes CanFam3.1 2 g.81208162C>T c.1118C>T p.(T373I) XM_005617949.3; XP_005618006.1 2019 30956123
400 OMIA001552-9615 dog Tibetan Terrier Neuronal ceroid lipofuscinosis, 12 ATP13A2 splicing Naturally occurring variant yes CanFam3.1 2 g.81210367del 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 OMIA002110-9615 dog Belgian Shepherd 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
1192 OMIA002265-9615 dog Irish Terrier 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
107 OMIA000640-9615 dog Labrador Retriever Menkes disease ATP7A missense Naturally occurring variant yes CanFam3.1 X g.60279238C>T c.980C>T p.(T327I) rs852523339 rs852523339 2016 26747866 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
106 OMIA001071-9615 dog Labrador Retriever Wilson disease ATP7B missense Naturally occurring variant yes CanFam3.1 22 g.225112G>A c.4151G>A 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 rs851958524 rs851958524 2016 26747866 30 Dec 2020: correct genomic location provided by Angelica K Kallenberg
1391 OMIA002484-9615 dog Shetland Sheepdog Bardet-Biedl syndrome 2 BBS2 missense Naturally occurring variant yes CanFam3.1 2 g.59693737G>C c.1222G>C p.(A408P) ENSCAFT00000014523.5; ENSCAFP00000013435.4 2021 34828377
356 OMIA002045-9615 dog Hungarian Puli Bardet-Biedl syndrome 4 BBS4 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 30 g.36063748A>T c.58A>T p.(K20*) 2017 28533336
635 OMIA001592-9615 dog Cavalier King Charles Spaniel 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
737 OMIA001554-9615 dog Lapponian Herder 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 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 OMIA001553-9615 dog Coton de Tulear Multifocal retinopathy 2 BEST1 cmr2 missense Naturally occurring variant yes CanFam3.1 18 g.54476143C>T c.482G>A p.(G161D) NM_001097545.1; NP_001091014.1 2007 17460247 Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn.
275 OMIA001444-9615 dog Boerboel Bull Mastiff English Mastiff Great Pyrenees Multifocal retinopathy 1 BEST1 cmr1 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 18 g.54478586G>A c.73C>T p.(R25*) NM_001097545.1; NP_001091014.1 2007 17460247 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
398 OMIA001660-9615 dog Great Dane Inherited myopathy of Great Danes BIN1 splicing Naturally occurring variant yes CanFam3.1 19 g.23522400A>G c.786-2A>G p.(R262_K263insASASRPFPQ) XM_014121413.2; XP_013976888.1; published as IVS10-2A>G, updated in this table to HGVS nomenclature 2013 23754947
862 OMIA001551-9615 dog Brachycephaly BMP3 missense Naturally occurring variant yes CanFam3.1 32 g.5231894C>A c.1344C>A p.(F448L) rs851217657 rs851217657 2012 22876193 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
93 OMIA001512-9615 dog Invasive transitional cell carcinoma of the bladder BRAF missense Naturally occurring variant yes CanFam3.1 16 g.8296284T>A c.1643T>A p.(V548E) XM_005629551.3; XP_005629608.1; published as somatic mutation p.(V594E) 2015 25767210
851 OMIA002132-9615 dog German Shorthaired Pointer 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 rs852549625 2017 29053721
583 OMIA001575-9615 dog Gordon Setter Irish Setter Miniature Poodle Old Danish Pointing Dog Polski Owczarek Nizinny Polski Owczarek Podhalanski Standard Poodle Tibetan Terrier Rod-cone dysplasia 4 C17H2orf71 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 17 g.22907394_22907395insG c.3149_3150insC p.(C1051Vfs*90) NM_001284459.1; NP_001271388.1; genomic position adjusted based on HGVS 3' rule; EVA variant with equivalent alleles: rs397510935 rs1152388416 2013 22686255
1085 OMIA001040-9615 dog Rhodesian Ridgeback Ventricular arrhythmias and sudden death C20H19orf70 missense Naturally occurring variant yes CanFam3.1 20 g.54343438G>A c.325G>A p.(G109S) ENSCAFG00000018796: g.54343438 G>A. ENSCAFT00000029838.4:c.325G>A ENSCAFP00000027731.3:p.G109S) rs852200012 rs852200012 2019 30795627
455 OMIA000155-9615 dog Brittany Spaniel 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
105 OMIA001820-9615 dog Parson Russell Terrier Ataxia, spinocerebellar CAPN1 missense Naturally occurring variant yes CanFam3.1 18 g.52009339C>T c.344G>A p.(C115Y) XM_540866.5; XP_540866.2 2013 23741357 Genomic coordinates in CanFam3.1 provided by Robert Kuhn
49 OMIA001138-9615 dog American Foxhound Beagle Hypocatalasia CAT missense Naturally occurring variant yes CanFam3.1 18 g.33397548C>T c.979G>A p.(A327T) 2000 11137458 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
458 OMIA001416-9615 dog Coat colour, dominant black CBD103 ΔG23 = K^B deletion, small (<=20) Naturally occurring variant no CanFam3.1 16 g.58965449_58965451del c.231_233del p.(G78del) "a 3-base pair (bp) deletion in the second exon of CBD103, the ortholog of human DEFB103, that predicts an in-frame glycine deletion (ΔG23)" rs851502010 rs851502010 2007 17947548 Genomic location provided by Professor Claire Wade August 2018. Allele designations taken from Ollivier et al. (2013)
266 OMIA001540-9615 dog Old English Sheepdog Ciliary dyskinesia, primary CCDC39 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 34 g.13952270G>A c.286C>T p.(R96*) 2011 21131972 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1274 OMIA001521-9615 dog Portugese water dog Progressive retinal atrophy, early onset CCDC66 EOPRA insertion, small (<=20) Naturally occurring variant yes CanFam3.1 20 g.33717704_33717705insT c.2262_c.2263insA p.(V747Sfs*8) 2020 33273526
574 OMIA001521-9615 dog Schapendoes 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.
61 OMIA002072-9615 dog Old Danish Pointing Dog Myasthenic syndrome, congenital CHAT missense Naturally occurring variant yes CanFam3.1 28 g.1484906G>A c.85G>A 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.
614 OMIA000685-9615 dog Jack Russell Terrier Myasthenic syndrome, congenital, due to CHRNE CHRNE insertion, small (<=20) Naturally occurring variant yes CanFam3.1 5 g.31705136_31705137insC c.636_637insC p.(G212Rfs*274) ENSCAFT00000083466.1; ENSCAFP00000057633.1; published as c.633_634insC, coordinates in the table updated in accordance to HGVS 3'-rule 2015 26429099
804 OMIA000685-9615 dog Heideterrier Myasthenic syndrome, congenital, due to CHRNE CHRNE insertion, small (<=20) Naturally occurring variant yes CanFam3.1 5 g.31707450_31707451insG c.1436_1437insG p.(S479Rfs*14) XM_014113502.1; XP_013968977.1 2017 28508416
609 OMIA000698-9615 dog Australian Cattle Dog Border Collie Myotonia CLCN1 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 16 g.6344748_6344749insT c.2647_2648insA p.(R883Qfs*18) NM_001003124.2; NP_001003124.1; published as c.2665insA; p.(R889fs); coordinates in the table have been updated to a recent reference genome and / or transcript 2007 17552451
1041 OMIA000698-9615 dog Labrador Retriever Myotonia CLCN1 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 16 g.6348929T>A c.2275A>T p.(R759X) Quitt et al. (2018): "Chr16:6348929 T A CLCN1 ENSCAFG00000003619.3 stopgain" 2018 29934119
62 OMIA000698-9615 dog Miniature Schnauzer Myotonia CLCN1 missense Naturally occurring variant yes CanFam3.1 16 g.6366383G>A c.803C>T p.(T268M) 1999 10452529 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1364 OMIA000698-9615 dog American Bulldog Myotonia CLCN1 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 16 g.6369245_6369246insAGAG c.436_437insCTCT p.(Y146Sfs*49) cDNA and protein position based on NM_001003124.2 and NP_001003124.1 2020 33246886
279 OMIA001482-9615 dog Australian Cattle Dog Border Collie Neuronal ceroid lipofuscinosis, 5 CLN5 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 22 g.30574637C>T c.619C>T p.(Q207*) rs1152388418 rs1152388418 2005 16033706 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool 30 Dec 2020: g. coordinate corrected, with thanks to Angelica K Kallenberg
541 OMIA001482-9615 dog Golden Retriever 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.
68 OMIA001443-9615 dog Australian Shepherd Neuronal ceroid lipofuscinosis, 6 CLN6 missense Naturally occurring variant yes CanFam3.1 30 g.32247875A>G c.829T>C p.(W277R) ROS_Cfam_1.0:g.32443458A>G ENSCAFT00845033654.1:c.829T>C ENSCAFP00845026347.1:p.Trp277Arg rs1152388420 rs1152388420 2011 21234413 Variant coordinates obtained from or confirmed by EBI's Variant Effect Predictor (VEP) tool
690 OMIA001506-9615 dog Alpenländische Dachsbracke 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 OMIA001506-9615 dog Saluki Neuronal ceroid lipofuscinosis, 8 CLN8 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 37 g.30874636dupT c.349dupT p.(E117*) "an insertion of 1 bp (T) in the CLN8 gene (Fig. S2) in a short T repeat, thereby changing the stretch of 9 T's to a stretch consisting of 10 T's. The exact position of the inserted base could obviously not be verified, given that this was an insertion of a single base in a stretch of nine repeats of the same base (CFA37:g.30874628–30874636). According to the recommended nomenclature, the T insertion was noted as a T duplication in the T farthest in the 3′ direction (g.30874636dupT; c.349dupT)" 2018 29446145
69 OMIA001506-9615 dog English Setter Neuronal ceroid lipofuscinosis, 8 CLN8 missense Naturally occurring variant yes CanFam3.1 37 g.30874779T>C c.491T>C p.(L164P) 2005 15629147 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
338 OMIA001506-9615 dog Australian Shepherd German Shorthaired Pointer Neuronal ceroid lipofuscinosis, 8 CLN8 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 37 g.30883950G>A c.585G>A p.(W195*) NM_001012343: c.585G>A (Guo et al., 2014) 2014 24953404 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; confirmed by Guo et al. (2019, pages 3, 4, 5 and 6), assuming that the g. coordinate (g.30,895,648) in the abstract of Guo et al. (2019) is a typo.
547 OMIA001977-9615 dog Shetland Sheepdog 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 OMIA001481-9615 dog Labrador Retriever 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 OMIA001481-9615 dog German Shepherd Dog Achromatopsia-2 CNGA3 missense Naturally occurring variant yes CanFam3.1 10 g.44234861C>T c.1270C>T p.(R424W) NM_001301112.1; NP_001288041.1 2015 26407004 Genomic position in CanFam3.1 provided by Mateo Etcheveste.
918 OMIA000830-9615 dog Papillon Phalène 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 2013 24015210
631 OMIA001365-9615 dog Alaskan Malamute Miniature Australian shepherd 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
27 OMIA001365-9615 dog German Shorthaired Pointer Achromatopsia (cone degeneration, hemeralopia), GSPT CNGB3 cd^GSPT missense Naturally occurring variant yes CanFam3.1 29 g.32837065C>T c.784G>A p.(D262N) 2002 12140185 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool 30 Dec 2020 Chromosome corrected, thanks to Angelica K Kallenberg
1273 OMIA002301-9615 dog Labrador Retriever Leonberger Saint Bernard Laryngeal paralysis and polyneuropathy CNTNAP1 LPPN3 missense Naturally occurring variant yes CanFam3.1 9 g.20298261C>T c.2810G>A p.(G937E) XM_548083.6:c.2810G>A; XP_548083.3:p.Gly937Glu rs24587752 rs24587752 2020 33261176
78 OMIA001772-9615 dog Labrador Retriever Skeletal dysplasia 2 (SD2) COL11A2 missense Naturally occurring variant yes CanFam3.1 12 g.2652874C>G c.143G>C p.(R48P) ROS_Cfam_1.0:g.2983602C>G ENSCAFT00845034709.1:c.143G>C ENSCAFP00845027184.1:p.Arg48Pro rs851399084 rs851399084 2013 23527306 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
959 OMIA002126-9615 dog Golden Retriever Osteogenesis imperfecta, type III, COL1A1-related COL1A1 missense Naturally occurring variant yes CanFam3.1 9 g.26193593C>G c.1145G>C 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 OMIA002112-9615 dog Beagle 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 OMIA002112-9615 dog Lagotto Romagnolo 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 OMIA002112-9615 dog Chow Chow Osteogenesis imperfecta, COL1A2-related COL1A2 splicing Naturally occurring variant yes CanFam3.1 14 g.19898487G>A c.936+1G>A 2018 29036614
278 OMIA000710-9615 dog English Springer Spaniel Nephropathy COL4A4 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 25 g.39893376G>A c.2713C>T p.(Q905*) NM_001031818.1; NP_001026988.1; published as c.2806C>T and p.(Q904*) 2012 22369189
277 OMIA000710-9615 dog English Cocker Spaniel Nephropathy COL4A4 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 25 g.39953906T>A c.115A>T p.(K39*) 2007 17552442 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
471 OMIA001112-9615 dog Navasota (mixed breed) 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 OMIA001112-9615 dog Samoyed Nephritis, X-linked COL4A5 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 X g.82196868G>T c.3079G>T p.(G1027*) 1994 8171024 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1124 OMIA002165-9615 dog Labrador Retriever Ehlers-Danlos syndrome, classic type, 1 COL5A1 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 9 g.50806169del c.3038del 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 OMIA002165-9615 dog Mixed breed Ehlers-Danlos syndrome, classic type, 1 COL5A1 missense Naturally occurring variant yes CanFam3.1 9 g.50832936G>A c.4711G>A p.(G1571R) XM_022423936.1,c.4711G>A; XP_022279644.1,p.(Gly1571Arg) 2019 31546637
340 OMIA001967-9615 dog Landseer Muscular dystrophy, Ullrich type COL6A1 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 31 g.39303964G>T c.289G>T 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
1208 OMIA002274-9615 dog Labrador Retriever Muscular dystrophy, COL6A3-related COL6A3 splicing Naturally occurring variant yes CanFam3.1 25 g.48007994C>T c.6210+1G>A CanFam3.1 chr25:48,007,994C > T; NM_001103215.1 c.6210 + 1G > A (Bolduc et al., 2020) 2020 32439203
1207 OMIA002274-9615 dog Labrador Retriever Muscular dystrophy, COL6A3-related COL6A3 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 25 g.48014962G>A c.4726C>T p.(R1576*) CanFam3.1 chr25:48,014,962G > A; NM_001103215.1 c.4726C > T, p.R1576* (Bolduc et al., 2020) 2020 32439203
357 OMIA000341-9615 dog Central Asian Shepherd Epidermolysis bullosa, dystrophic COL7A1 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 20 g.40532043C>T c.4579C>T p.(R1527*) 2017 28493971 Variant coordinates obtained from or confirmed by EBI's Variant Effect Predictor (VEP) tool
38 OMIA000341-9615 dog Golden Retriever Epidermolysis bullosa, dystrophic COL7A1 missense Naturally occurring variant yes CanFam3.1 20 g.40538034G>A c.5716G>A p.(G1906S) 2003 12874109 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1276 OMIA000341-9615 dog Basset Hound 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
641 OMIA001523-9615 dog Samoyed Oculoskeletal dysplasia 2 COL9A2 deletion, gross (>20) Naturally occurring variant yes 15 a 1,267 bp deletion that eliminates part of the 5’UTR, all of exon 1 and part of intron 1 2010 20686772
581 OMIA001522-9615 dog Labrador Retriever 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 OMIA001522-9615 dog Northern Inuit Dog Oculoskeletal dysplasia 1 COL9A3 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 24 g.46660067C>T c.700C>T p.(R234*) 2019 31415586
643 OMIA001988-9615 dog Bedlington Terrier Wilson disease, COMMD1 type COMMD1 deletion, gross (>20) Naturally occurring variant yes 10 deletion "breakpoints were positioned at 65.3091 and 65.3489 Mb of dog chromosome 10, in intron 1 and intron 2 of COMMD1 respectively, a deletion of 39.7 kb" 2005 16293123
66 OMIA001505-9615 dog American Bulldog Neuronal ceroid lipofuscinosis, 10 CTSD missense Naturally occurring variant yes CanFam3.1 18 g.46013354C>T c.597G>A p.(M199I) 2006 16386934 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
529 OMIA001786-9615 dog Beagle Intestinal cobalamin malabsorption due to CUBN mutation CUBN deletion, small (<=20) Naturally occurring variant yes CanFam3.1 2 g.19796293del c.786del p.(D262Efs*47) NM_001003148.1; NP_001003148.1; deletion C rs1152388404 rs1152388404 2014 24164695
447 OMIA001786-9615 dog Border Collie Intestinal cobalamin malabsorption due to CUBN mutation CUBN deletion, small (<=20) Naturally occurring variant yes CanFam3.1 2 g.19974334del c.8392del p.(Q2798Rfs*3) NM_001003148.1; NP_001003148.1; deletion C 2013 23613799
1036 OMIA001786-9615 dog Komondor Intestinal cobalamin malabsorption, CUBN-related CUBN splicing Naturally occurring variant yes CanFam3.1 2 g.19981457G>A c.8746+1G>A NM_001003148.1 2018 30591068
850 OMIA002131-9615 dog Mixed breed Methemoglobinaemia, CYB5R3-related CYB5R3 missense Naturally occurring variant yes CanFam3.1 10 g.22832963G>A c.214G>A p.(G72S) 2017 28963729 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
967 OMIA002131-9615 dog Pomeranian Methemoglobinaemia, CYB5R3-related CYB5R3 missense Naturally occurring variant yes CanFam3.1 10 g.22836951A>C c.580A>C p.(I194L) NM_001048084.1, NP_001041549.1 2018 29356095 Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn.
274 OMIA001405-9615 dog Beagle Metabolizer of a cognitive enhancer CYP1A2 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 30 g.37821686C>T c.1117C>T p.(R373*) rs852922442 rs852922442 2004 15564884 Variant coordinates obtained from or confirmed by EBI's Variant Effect Predictor (VEP) tool
52 OMIA001130-9615 dog Australian Cattle Dog Shetland Sheepdog Leucodystrophy CYTB missense Naturally occurring variant yes CanFam3.1 M m.14474G>A c.14474G>A p.(V98M) 2006 16026996 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
565 OMIA002095-9615 dog Rhodesian Ridgeback 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
728 OMIA001919-9615 dog Nova Scotia Duck Tolling retriever 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
536 OMIA001081-9615 dog Cocker Spaniel Muscular dystrophy, Duchenne type DMD deletion, small (<=20) Naturally occurring variant yes X deletion of four nucleotides in exon 65, with a reading frame shift predicting a premature stop codon at the site of the deletion 2012 22218699
680 OMIA001081-9615 dog German Shorthaired Pointer Muscular dystrophy, Duchenne type DMD deletion, gross (>20) Naturally occurring variant yes X a "deletion encompassing the entire dystrophin [DMD] gene" 1999 10407848
681 OMIA001081-9615 dog Tibetan Terrier Muscular dystrophy, Duchenne type DMD deletion, gross (>20) Naturally occurring variant yes X "a large deletion of exons 8-29" 2012 22218699
729 OMIA001081-9615 dog Labrador Retriever Muscular dystrophy, Duchenne type DMD insertion, gross (>20) Naturally occurring variant yes X "184 nucleotide [pseudoexon] insertion between exon 19 and exon 20, which results in a premature stop codon at the next codon downstream of the insertion" 2012 22218699 Reference not in PubMed; see OMIA 001081-9615 for reference details
957 OMIA001081-9615 dog Rottweiler Muscular dystrophy, Duchenne type DMD nonsense (stop-gain) Naturally occurring variant yes X "nonsense mutation in exon 58" 1994 Reference not in PubMed; see OMIA 001081-9615 for reference details
989 OMIA001081-9615 dog Miniature Poodle Muscular dystrophy, Duchenne type DMD deletion, gross (>20) Naturally occurring variant yes X "a >5 Mb deletion on the X chromosome, encompassing the entire DMD gene" 2018 29474464
367 OMIA001081-9615 dog Cavalier King Charles Spaniel Muscular dystrophy, Duchenne type DMD splicing Naturally occurring variant yes CanFam3.1 X g.26956239G>A 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
562 OMIA001081-9615 dog Cavalier King Charles Spaniel 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 OMIA001081-9615 dog Norfolk Terrier Muscular dystrophy, Duchenne type DMD deletion, small (<=20) Naturally occurring variant yes CanFam3.1 X g.27606021del c.3084delG p.(G1029Nfs*30) 2015 26401335
1249 OMIA001081-9615 dog Jack Russell Terrier 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
1236 OMIA001081-9615 dog Australian Labradoodle Australian Labradoodle dystrophinopathy DMD nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 X g.27621845G>A c.2668C>T 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
1234 OMIA001081-9615 dog Labrador Retriever 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 OMIA001081-9615 dog Border Collie Muscular dystrophy, Duchenne DMD deletion, small (<=20) Naturally occurring variant yes CanFam3.1 X g.27626466del c.2841delT 2018 29843823
750 OMIA001081-9615 dog Japanese Spitz 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 OMIA001081-9615 dog Pembroke Welsh Corgi 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
366 OMIA001081-9615 dog Golden Retriever Muscular dystrophy, Duchenne type DMD splicing Naturally occurring variant yes CanFam3.1 X g.27926946T>C 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
39 OMIA001466-9615 dog Chesapeake Bay Retriever Curly-coated retriever Labrador Retriever Exercise-induced collapse DNM1 missense Naturally occurring variant yes CanFam3.1 9 g.55282762C>A c.767G>T p.(R256L) ROS_Cfam_1.0:g.56204742C>A ENSCAFT00845051951.1:c.767G>T ENSCAFP00845040760.1:p.Arg256Leu rs852832685 rs852832685 2008 18806795 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1434 OMIA002534-9615 dog Border Collie Centronuclear myopathy 1 DNM2 missense Naturally occurring variant yes CanFam3.1 20 g.50423497G>A c.1393C>T p.(R465W) XM_005632882.3; XP_005632939.1. 2022 35244154
1194 OMIA002266-9615 dog Rottweiler 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
1056 OMIA002186-9615 dog Boston Terrier Bulldog French Bulldog 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
1017 OMIA000543-9615 dog Dachshund X-linked hypohidrotic ectodermal dysplasia EDA deletion, small (<=20) Naturally occurring variant yes CanFam3.1 X g.54509504del c.842delT p.(L281Hfs*22) 2018 30276836
361 OMIA000543-9615 dog German Shepherd Dog Anhidrotic ectodermal dysplasia EDA splicing Naturally occurring variant yes CanFam3.1 X g.54511433G>A 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.
1044 OMIA001805-9615 dog Parson Russell Terrier Amelogenesis imperfecta ENAM missense Naturally occurring variant yes CanFam3.1 13 g.59945218C>T c.716C>T p.(P239L) XM_539305.4; XP_539305.3 2019 30877375 Genomic coordinates in CanFam3.1 provided by Robert Kuhn and Zoe Shmidt.
452 OMIA001805-9615 dog Italian Greyhound Amelogenesis imperfecta ENAM deletion, small (<=20) Naturally occurring variant yes CanFam3.1 13 g.59946493_59946497del c.1991_1995delTTTCC p.(F665Rfs*3) XM_539305.4; XP_539305.3; published as c.1991_1995delTTTCC 2013 23638899 Genomic coordinates in CanFam3.1 provided by Robert Kuhn
1454 OMIA002550-9615 dog Rhodesian Ridgeback Early onset adult deafness EPS8L2 deletion, small (<=20) Naturally occurring variant yes UMICH_Zoey_3.1/canFam5 18 g.25868739_25868750del c.1033_1044del p.(V345_L348del) XM_038500406.1; XP_038356334.1; published as 12-bp inframe deletion in EPS8L2 (CFA18:25,868,739-25,868,751 in the UMICH_Zoey_3.1) corresponding to deletion of amino acids VHFL 2022 35385474
980 OMIA001214-9615 dog American Staffordshire Terrier Osteochondromatosis EXT2 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 18 g.45101754G>T c.924C>A p.(Y308*) XM_014121199.2; XP_013976674.1; published as c.969C>A and p.(Y323*); coordinates in the table have been updated to a recent reference genome and / or transcript 2018 29485212
702 OMIA000363-9615 dog Kerry Blue Terrier Factor XI deficiency F11 insertion, gross (>20) Naturally occurring variant yes 16 The seventh coding exon contains 90bp interspersed nucleotide element (SINE) insertion, consisting mostly of adenines coding for lysine which is presumed to affect the 3rd apple domain of the FXI gene (Tcherneva et al. 2006). 2006 Reference not in PubMed; see OMIA 000363-9615 for reference details
40 OMIA000361-9615 dog Beagle Factor VII deficiency F7 missense Naturally occurring variant yes CanFam3.1 22 g.60578895G>A c.407G>A p.(G136E) 2006 16961583 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
363 OMIA000437-9615 dog Irish Setter Miniature Schnauzer Haemophilia A F8 splicing Naturally occurring variant yes X intronic inversion that results in "aberrant splicing and premature termination" 2002 12008949
350 OMIA000437-9615 dog Old English Sheepdog Haemophilia A F8 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 X g.122973422G>A c.1786C>T p.(R596*) 2016 27780008 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
100 OMIA000437-9615 dog German Shepherd Dog Haemophilia A F8 missense Naturally occurring variant yes CanFam3.1 X g.122975611C>T c.1700G>A p.(C567Y) NM_001003212.1; NP_001003212.1; published as c.1643G>A & p.(C548Y); coordinates in the table have been updated to a recent reference genome and / or transcript. 2014 25040606
99 OMIA000437-9615 dog Boxer Haemophilia A F8 missense Naturally occurring variant yes CanFam3.1 X g.122981181G>C c.1469C>G p.(P490R) NM_001003212.1; NP_001003212.1; published as c.1412C>G & p.(P471R); coordinates in the table have been updated to a recent reference genome and/ or transcript 2014 25040606
272 OMIA000437-9615 dog German Shepherd Dog Haemophilia A F8 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 X g.123043081C>T c.98G>A p.(W33*) 2011 21949058 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1284 OMIA000437-9615 dog Rhodesian Ridgeback Haemophilia A F8 insertion, gross (>20) Naturally occurring variant yes CanFam3.1 X g.1240738676_1240738677insN[221] c.4824_4825insN[221] NM_001003212.1; published as c.4824_25ins221 2021 33494213
636 OMIA000438-9615 dog Labrador Retriever Haemophilia B F9 deletion, gross (>20) Naturally occurring variant yes X a deletion of the entire gene 1997 9394892
637 OMIA000438-9615 dog Pit Bull Terrier Haemophilia B F9 deletion, gross (>20) Naturally occurring variant yes X Gu et al. (1999): "A large deletion mutation was found in 1 breed variant, spanning the entire 5' region of the factor IX gene extending to exon 6". 1999 10544912 Following Table 3 from Kuder et al. (2021), the breed for this variant has been changed to Pit Bull Terrier. (18th October 2021)
1039 OMIA000438-9615 dog Hovawart Haemophilia B F9 regulatory Naturally occurring variant yes CanFam3.1 X g.109501492del c.-73del NM_001003323.2; Brenig et al. (2019): NC_006621.3:g.109501492delC; "The deletion is located 73 bp upstream of the F9 start codon in the conserved overlapping DNA binding sites of hepatocyte nuclear factor 4alpha and androgen receptor." 2019 30846504
705 OMIA000438-9615 dog German Wirehaired Pointer Haemophilia B F9 insertion, gross (>20) Naturally occurring variant yes CanFam3.1 X g.109521130_109521131insN[(1500)] NM_001003323.2; published as "insert consists of a 5' truncated canine Line-1 followed by an approximately 200-bp 3' poly (A) tract, flanked by a 15-bp direct repeat"; g. coordinate of insertion obtained from Brenig et al. (2019) 2003 14722728 CanFam3.1 coordinates copied from Table 3 of Kuder et al. (2021) (18 Oct 2021)
467 OMIA000438-9615 dog Lhasa Apso Haemophilia B F9 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 X g.109521356_109521361delinsT c.548_553delinsT p.(R183Lfs*3) NM_001003323.2; NP_001003323.1; published as "a deletion including nucleotides 772-776 and a C-->T transition at nucleotide 777", coordinates in the table have been updated to a recent reference genome and / or transcript and to HGVS nomenclature 1996 8896410 CanFam3.1 coordinates copied from Table 3 of Kuder et al. (2021) (18 Oct 2021)
47 OMIA000438-9615 dog Rhodesian Ridgeback Haemophilia B F9 missense Naturally occurring variant yes CanFam3.1 X g.109530868G>A c.731G>A p.(G244E) NM_001003323.2; NP_001003323.1; published as p.(G244E) by Mischke et al. (2011), g. and p. coordinates were copied on the 18th October 2021 from Table 3 of Kuder et al. (2021) (relating to NP_001003323.1 ) as g.109530847G>A and p.(G237E). These g. and p. positions were incorrect. After review of Figure 1 published by Mischke et al. (2011) it was confirmed that the published p. coordinates are consistent with NM_001003323.2:c.731G>A and NP_001003323.1:p.(G244E). The g. coordinates have been updated to a recent reference genome (5th April 2022) 2011 20303304 Thank you to Agustín Arasanz for identifying that the coordinates published by Kuder et al. (2021) were inconsistent with the originally published information by Mischke et al. (2011) (5th April 2022).
1363 OMIA000438-9615 dog Newfoundland Haemophilia B F9 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 X g.109531586_109531587insA c.821_822insA p.(N274Kfs*23) NM_001003323.2; NP_001003323.1 2021 34680886
704 OMIA000438-9615 dog Airedale Terrier Haemophilia B F9 insertion, gross (>20) Naturally occurring variant yes CanFam3.1 X g.109532012_109532013insN[(5000)] c.1247_1248insN[(5000)] NM_001003323.2; Gu et al. (1999): "An approximately 5 kb insertion disrupted exon 8 ... associated with alternative splicing between a donor site 5' and acceptor site 3' to the normal exon 8 splice junction, with introduction of a new stop codon. The resultant transcript lacked most of the factor IX catalytic domain and 3' untranslated region." 1999 10544912 CanFam3.1 coordinates copied from Table 3 of Kuder et al. (2021) (18 Oct 2021)
46 OMIA000438-9615 dog Cairn Terrier Haemophilia B F9 missense Naturally occurring variant yes CanFam3.1 X g.109532018G>A c.1253G>A p.(G418E) NM_001003323.2; NP_001003323.1, published as p.(G379E) by Evans et al. (1989), coordinates in the table have been updated to a recent reference genome and / or transcript 1989 2481310 c. and p. coordinates updated from Kuder et al. (2021)
752 OMIA002032-9615 dog Border Collie Mixed breed Neuropathy, sensory FAM134B inversion Naturally occurring variant yes CanFam3.1 4 g.80439639_86910352inv "6.47 Mb inversion was identified with breakpoints in intron 3 of FAM134B (chr4:86,910,352) and in an upstream intergenic region (chr4:80,439,639) ... … Analysis of RNAseq data revealed FAM134B was majorly disrupted by the inversion, with novel exons occurring 3′ of the final normally transcribed exon before the inversion, due to cryptic splicing." 2016 27527794
1342 OMIA002032-9615 dog Mixed breed Neuropathy, sensory FAM134B missense Naturally occurring variant yes CanFam3.1 4 g.86916562C>T c.656C>T p.(P219L) NM_001314111.1; NP_001301040.1 2021 34387380
925 OMIA001918-9615 dog Tibetan Spaniel Tibetan Terrier Progressive retinal atrophy, type 3, FAM161A-related FAM161A insertion, gross (>20) Naturally occurring variant yes CanFam3.1 10 g.61822372_61822373insN[(230)] A ~230bp insertion containing a 132bp short interspersed nuclear element (SINE), near the splice acceptor site of exon 5 CanFam2.0 coordinate published as g.64974130 2014 24705771
102 OMIA002015-9615 dog Border Collie Dental hypomineralization FAM20C missense Naturally occurring variant yes CanFam3.1 6 g.16452327G>A c.899C>T p.(A300V) 2016 27187611 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
89 OMIA001327-9615 dog Irish Terrier Kromfohrländer Hyperkeratosis, palmoplantar FAM83G missense Naturally occurring variant yes CanFam3.1 5 g.41055619G>C c.155G>C p.(R52P) 2014 24832243 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
460 OMIA001683-9615 dog Cavalier King Charles Spaniel Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis FAM83H deletion, small (<=20) Naturally occurring variant yes CanFam3.1 13 g.37328057del c.977del p.(P326Hfs*258) NM_001289427.1; NP_001276356.1; genomic position in accordance with HGVS 3'-rule 2012 22253609 Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn.
683 OMIA000366-9615 dog Basenji Fanconi syndrome FAN1 deletion, gross (>20) Naturally occurring variant yes 3 "317 bp of exon 14 were deleted starting at the second exon14 nucleotide and extending into the 3' untranslated region of FAN1" 2011 Reference not in PubMed; see OMIA 000366-9615 for reference details
576 OMIA001525-9615 dog German Shepherd Dog Leukocyte adhesion deficiency, type III FERMT3 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 18 g.52835932_52835933insGGCAGCCGTCTT c.1349_1350insAAGACGGCTGCC p.(L450_A451insRRLP) XM_038425194.1; XP_038281122.1; 12-base pair insertion 2010 20126836
1336 OMIA002382-9615 dog Miniature Wirehaired Dachshund Afibrinogenaemia FGA deletion, small (<=20) Naturally occurring variant yes CanFam3.1 15 g.52240694del c.1665delT p.(I555Mfs*33) Transcript XM_532697.6 / ENSCAFT00000043702.3 rs1152388481 rs1152388481 2021 34356081
929 OMIA000272-9615 dog Rhodesian Ridgeback Thai Ridgeback Ridge & dermoid sinus FGF3 Ridge allele duplication Naturally occurring variant yes CanFam3.1 18 g.48372578_48505893dup133316 A large ~133,000 bp duplication on chromosome 18, encompassing three FGF genes (FGF3, FGF4, FGF19) and another gene ORAOV1. There is an additional single T inserted between the two copies of the duplication. This is not indicated in the genomic variant designation. 2007 17906623
694 OMIA002542-9615 dog Basset Hound Cairn Terrier Cardigan Welsh Corgi Dachshund Dandie Dinmont Terrier Lancashire heeler Norwich Terrier Pekingese Pembroke Welsh Corgi Petit Basset Griffon Vendéen Shih-Tzu Skye Terrier Swedish Vallhund Tibetan Spaniel West Highland Terrier Chondrodysplasia FGF4 retrogene CFA18 FGF4L1 insertion, gross (>20) Naturally occurring variant yes 18 a 5kb insertion containing a FGF4 retrogene, i.e. a processed pseudogene of FGF4: The insertion containing the FGF4 retrogene starts at 23,431,136 on CFA18, which is 25Mb away from the complete (original) FGF4 gene, which is located at CFA18 48413479-48415205 2009 19608863
855 OMIA000157-9615 dog American Cocker Spaniel Basset Hound Beagle Cardigan Welsh Corgi Chesapeake Bay Retriever Chihuahua Coton de Tulear Dachshund English Springer Spaniel French Bulldog Nova Scotia Duck Tolling retriever Intervertebral disc disease, type I FGF4 retrogene in CFA12 FGF4L2 insertion, gross (>20) Naturally occurring variant yes CanFam3.1 12 " the insertion on CFA12 is 3,209 bp long (GenBank accession no. MF040221) and includes parental FGF4 cDNA (i.e., FGF4 exons spliced without introns) . . . ." 200922: g. info moved here (g.33710178_33710179insMF040221) until it can be standardised 2017 29073074
853 OMIA002133-9615 dog Nova Scotia Duck Tolling retriever Skeletal dysplasia, FGF4-retrogene-related FGF4 retrogene on CFA12 FGF4L2 insertion, gross (>20) Naturally occurring variant yes CanFam3.1 12 " the insertion on CFA12 is 3,209 bp long (GenBank accession no. MF040221) and includes parental FGF4 cDNA (i.e., FGF4 exons spliced without introns) . . . ." 200922: g. info moved here (g.33710178_33710179insMF040221) until can be standardised 2017 29073074
48 OMIA000439-9615 dog Afghan Hound Border Collie Cocker Spaniel Collie Corgi Dachshund German Shepherd Dog Golden Retriever Pomeranian Samoyed Long hair FGF5 missense Naturally occurring variant no CanFam3.1 32 g.4509367G>T c.284G>T p.(C95F) ROS_Cfam_1.0:g.4533621G>T ENSCAFT00845031580.1:c.290G>T ENSCAFP00845024720.1:p.Cys97Phe rs851828354 rs851828354 2006 16879338 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
418 OMIA000439-9615 dog Afghan Hound Long hair FGF5 splicing Naturally occurring variant no CanFam3.1 32 g.4517257T>A c.368-11T>A ROS_Cfam_1.0:g.4541511T>A ENSCAFT00845031580.1:c.368-11T>A rs397511324 rs397511324 2013 23384345 30 Dec 2020: g. coordinate corrected: thanks to Angelica K Kallenberg
952 OMIA000439-9615 dog Eurasier Long hair FGF5 deletion, small (<=20) Naturally occurring variant no CanFam3.1 32 g.4528617_4528632del c.556_571del p.(A186Tfs*71) NM_001048129.1; NP_001041594.1; published as c.556_571del16; p.(A186Tfs*69) rs397509816 2013 23384345 Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn.
950 OMIA000439-9615 dog Afghan Hound Eurasier Long hair FGF5 duplication Naturally occurring variant no CanFam3.1 32 g.4528620_4528621dup c.559_560dup p.(R188Afs*75) NM_001048129.1; NP_001041594.1; published as c.559_560dupGG and p.(R188Afs*73) rs397512451 2013 23384345 Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn.
104 OMIA000439-9615 dog Akita Samoyed Long hair FGF5 missense Naturally occurring variant no CanFam3.1 32 g.4528639C>T c.578C>T p.(A193V) NM_001048129.1; NP_001041594.1 2013 23384345 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
77 OMIA001335-9615 dog German Shepherd Dog Renal cystadenocarcinoma and nodular dermatofibrosis FLCN missense Naturally occurring variant yes CanFam3.1 5 g.42186445A>G c.764A>G p.(H255R) rs1152388411 rs1152388411 2003 14532326 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
531 OMIA000526-9615 dog Weimaraner Hypomyelination of the central nervous system FNIP2 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 15 g.55928287del c.1078del p.(I360Lfs*3) XM_005629382.3; XP_005629439.1; published as CanFam2:58974928delA, XM_532705:c.880delA and p.(I294fs*296) - coordinates in the table have been updated to a recent reference genome and / or transcript and HGVS nomenclature 2014 24272703
571 OMIA000323-9615 dog Chinese Crested Dog Mexican Hairless Dog (Xoloitzcuintli) Peruvian Hairless Dog (Inca Hairless) Ectodermal dysplasia FOXI3 insertion, small (<=20) Naturally occurring variant yes ROS_Cfam_1.0 17 g.38764875_38764881dup c.57_63dup p.(A23Rfs*219) NM_001135646.1; NP_001129118.1 2008 18787161
461 OMIA000396-9615 dog English Springer Spaniel Fucosidosis, alpha FUCA1 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 2 g.75665866_75665879del c.379_392del p.(A127Vfs*26) NM_001003250.1; NP_001003250.1; a 14-bp deletion at the 3' end of exon 1 1996 8730282
1436 OMIA002536-9615 dog Wirehaired Pointing Griffon Juvenile cataract FYCO1 deletion, small (<=20) Naturally occurring variant yes UU_Cfam_GSD_1.0 20 g.42952995del c.2024delG p.(S675Tfs*5) XM_038566669.1; XP_038422597.1 2022 35205377
1361 OMIA000418-9615 dog German Pinscher Glycogen storage disease Ia G6PC insertion, gross (>20) Naturally occurring variant yes CanFam3.1 9 g.20134857_20134858insN[76] c.634_635insN[76] XM_038676372.1; insertion of 60 consecutive adenines and an additional 16 bp duplication of the integration site (Christen et al., 2021) 2021 34610166
44 OMIA000418-9615 dog Maltese Glycogen storage disease Ia G6PC missense Naturally occurring variant yes CanFam3.1 9 g.20138777C>G c.363G>C p.(M121I) NM_001002993.2; NP_001002993.2; published as c.450G>C; coordinates in the table have been updated to a recent reference genome and / or transcript 1997 9259982 Genomic coordinates in CanFam3.1 provided by Robert Kuhn
270 OMIA000419-9615 dog Finnish Lapphund Swedish Lapphund Glycogen storage disease II GAA nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 9 g.1603730C>T c.2237G>A p.(W746*) 2013 23457621 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
953 OMIA000578-9615 dog Irish Setter Krabbe disease GALC insertion, gross (>20) Naturally occurring variant yes CanFam3.1 8 g.59294611_59294612insN[78] c.790_791insN[78] NM_001003238.1; NP_001003238.1; the 78 bp insertion includes a 16-bp insertion site duplication and a 62 bp U4 snRNA-derived sequence; the downstream reading frame is preserved (for sequence details see McGraw et al., 2006) 2006 16490723
51 OMIA000578-9615 dog Cairn Terrier West Highland White Terrier Krabbe disease GALC missense Naturally occurring variant yes CanFam3.1 8 g.59311801T>G c.473A>C p.(Y158S) NM_001003238.1; NP_001003238.1 1996 8661004 Genomic coordinates in CanFam3.1 provided by Robert Kuhn
1150 OMIA002362-9615 dog Entlebucher mountain dog Fecundity GDF9 missense Naturally occurring variant no CanFam3.1 11 g.21147009G>A c.229C>T p.(P77S) NM_001168013.1; NP_001161485.1 2020 31802524
444 OMIA001514-9615 dog English Pointer English Springer Spaniel French Spaniel German Shorthaired Pointer Acral mutilation syndrome GDNF regulatory Naturally occurring variant yes CanFam3.1 4 g.70875561C>T "This variant, located 90 kb upstream of the GDNF gene, a highly relevant neurotrophic factor candidate gene, lies in [the last exon of] a long intergenic non-coding RNAs (lincRNA), GDNF-AS." 2016 28033318
114 OMIA001208-9615 dog Labrador Retriever Alexander disease GFAP missense Naturally occurring variant yes CanFam3.1 9 g.18572769G>A c.719G>A p.(R240H) rs850986067 rs850986067 2016 26486469 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1232 OMIA001473-9615 dog Chihuahua Dwarfism, growth-hormone deficiency GH1 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 9 g.11832438_11832443del c.573_578del p.(K191_D193delinsN) NM_001003168.1; NP_001003168.1 2020 32646299 Genomic coordinates in CanFam3.1 provided by Robert Kuhn
794 OMIA002119-9615 dog Leonberger Polyneuropathy (LPN2) GJA9 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 15 g.3863524_3863525del c.1107_1108delAG p.(A370Nfs*12) 2017 28841859
462 OMIA000402-9615 dog Shiba Gangliosidosis, GM1 GLB1 deletion, small (<=20) Naturally occurring variant yes 23 a deletion of a cytosine in exon 15 that causes a premature stop codon in GLB1 2002 12555949
41 OMIA000402-9615 dog Portugese water dog Gangliosidosis, GM1 GLB1 missense Naturally occurring variant yes CanFam3.1 23 g.3754313G>A c.179G>A p.(R60H) NM_001037641.1; NP_001032730.1; published as c.200G>A; coordinates in the table have been updated to a recent reference genome and / or transcript 2000 11032334
573 OMIA000402-9615 dog Alaskan Husky Gangliosidosis, GM1 GLB1 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 23 g.3796356_3796374dup c.1688_1706dup p.(T570Pfs*22) NM_001037641.1; NP_001032730.1; 19 base pair duplication in exon 15. Two different aberrant mRNA transcripts are produced from the mutant allele. The protein variant designation refers to one of these transcripts that includes the mutant exon 15. In the other aberrant transcript, the mutant exon 15 is skipped and a different truncated protein is encoded. 2005 15944348
1097 OMIA002207-9615 dog Cocker Spaniel Bernard-Soulier syndrome, type C GP9 deletion, gross (>20) Naturally occurring variant yes CanFam3.1 20 g.3025814_3028273del c.127_*2052del XM_846924.3; Gentilini et al. (2019): "The [2460bp] deletion truncates 104 (71%) of the 146 codons of the wildtype canine reading frame." 2019 31484196
693 OMIA000078-9615 dog Coton de Tulear Ataxia, cerebellar GRM1 insertion, gross (>20) Naturally occurring variant yes 1 "a 62-bp truncated retrotransposon insert in exon 8" 2011 21281350
58 OMIA000667-9615 dog Brazilian Terrier Mucopolysaccharidosis VII GUSB missense Naturally occurring variant yes CanFam3.1 6 g.740428G>A c.866C>T p.(P289L) 2012 22815736 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
57 OMIA000667-9615 dog German Shepherd Dog Mucopolysaccharidosis VII GUSB missense Naturally occurring variant yes CanFam3.1 6 g.741429C>T c.497G>A p.(R166H) ROS_Cfam_1.0:g.546709C>T ENSCAFT00845023689.1:c.482G>A ENSCAFP00845018598.1:p.Arg161His rs1152388412 rs1152388412 1998 9521879 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
924 OMIA001374-9615 dog Labrador Centronuclear myopathy, HACD1-related HACD1 insertion, gross (>20) Naturally occurring variant yes CanFam3.1 2 g.19371988_19371989ins[N[236];CACACAAAGGTTT] c.203_204ins[N[236];CACACAAAGGTTT] NM_001025269.1; published as insertion of a 236 bp antisense canine tRNA-like SINE (EMBL accession no. AJ876906), flanked on both sides by a 13 bp direct duplication of the insertion site; resulting in multiple splicing defects 2005 15829503
1421 OMIA002522-9615 dog Norwegian Elkhound Ataxia, HACE1-related HACE1 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 12 g.62282767del c.1001del p.(G334Vfs*34) ENSCAFT00000072236.1; ENSCAFP00000049888.1 2022 35061740
709 OMIA001561-9615 dog Shar-Pei Periodic Fever Syndrome HAS2 insertion, gross (>20) Naturally occurring variant yes 13 "several copies of a the "meatmouth" (CNV-E) duplication upstream of the HAS2 gene" 2011 21437276
64 OMIA000703-9615 dog Dachshund Narcolepsy HCRTR2 missense Naturally occurring variant yes CanFam3.1 12 g.22517939G>A c.160G>A p.(E54K) NM_001002933.1; NP_001002933.1 2001 11282968 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
419 OMIA000703-9615 dog Doberman Pinscher Narcolepsy HCRTR2 splicing Naturally occurring variant yes CanFam3.1 12 g.22603767_22603768insN[226] c.647-36_647-35insN[226] NM_001002933.1; a 226 bp SINE insertion in intron 3 of the HCRTR2 gene leads to skipping of exon 4 1999 10458611
368 OMIA000703-9615 dog Labrador Retriever Narcolepsy HCRTR2 splicing Naturally occurring variant yes CanFam3.1 12 g.22620881G>A c.1105+5G>A NM_001002933.1; NP_001002933.1; experimentally confirmed splice defect; skipping of exon 6 in the HCRTR2 mRNA transcript due to a G to A transition at position +5 in the 5′-splice site of intron 6 1999 10458611
535 OMIA001944-9615 dog Miniature Schnauzer Spondylocostal dysostosis, autosomal recessive HES7 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 5 g.32945846del c.126delG p.(T43Pfs*24) 2015 25659135
26 OMIA001461-9615 dog Japanese Chin dog Gangliosidosis, GM2, type I HEXA missense Naturally occurring variant yes CanFam3.1 30 g.35841247C>T c.967G>A p.(E323K) 2013 23266199 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
463 OMIA001462-9615 dog Toy Poodle Gangliosidosis, GM2, type II (Sandhoff or variant 0) HEXB deletion, small (<=20) Naturally occurring variant yes CanFam3.1 2 g.57225684del c.391del p.(V131*) XM_022414769.1; XP_022270477.1; published as c.283delG and p.(V59fs); coordinates in the table have been updated to a recent reference genome and / or transcript 2012 22766310
798 OMIA001462-9615 dog Shiba-Inu Gangliosidosis, GM2, type II (Sandhoff or variant 0) HEXB deletion, small (<=20) Naturally occurring variant yes CanFam3.1 2 g.57243656_57243658del c.849_851del p.(L284del) XM_022414769.1; XP_022270477.1; published by Kolicheski et al. (2017) as p.Leu317del and reported by Wang et al. (2018) as p.(L207del) 2017 28833537
1170 OMIA001311-9615 OMIA002252-9615 dog Miniature Schnauzer Progressive retinal atrophy, Miniature Schnauzer, type 1 HIVEP3 regulatory Naturally occurring variant unknown CanFam3.1 15 g.1432293G>A "intronic variant in HIVEP3/ENSCAFG00000035604" (Kaukonen et al., 2020). The genetic evidence is unable to distinguish between the HIVEP3 and PPT1 variants as potential causes of PRA. ... functional considerations favor causality of the coding PPT1 structural variant over the intronic HIVEP3 SNV" (Aguirre et al. 2020). 2020 32150541
1215 OMIA002275-9615 dog French Bulldog Cocoa HPS3 HPS3^co nonsense (stop-gain) Naturally occurring variant no CanFam3.1 23 g.43969695G>A c.2420G>A p.(T807*) XM_542830.6:c.2420G>A; XP_542830.3:p.(Trp807*) 2020 32526956
1095 OMIA001601-9615 dog Dachshund Disorder of sexual development, 78,XY, SRY-positive HSD17B3 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 1 g.70554301_70554302del c.159_160del p.(T54Wfs*13) XM_003638870.2; XP_003638918.1; deletion CA 2019 31476086
456 OMIA001758-9615 dog Australian Shepherd Cataract, early onset HSF4 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 5 g.82198114del c.971del p.(P324Hfs*87) NM_001048121.1; NP_001041586.1; published as g.85286582delC 2006 16939467
568 OMIA001758-9615 dog Staffordshire Bull Terrier Cataract, early onset HSF4 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 5 g.82198114_82198115insG c.971_972insC p.(L325Tfs*28) NM_001048121.1; NP_001041586.1; published as g.85286582_85286583insC 2006 16939467
1237 OMIA000664-9615 dog Golden Retriever Mucopolysaccharidosis I IDUA deletion, gross (>20) Naturally occurring variant yes CanFam3.1 3 g.91523238_91523524del c.1400-76_1521+89del p.(G467_E507del) NM_001313883.1; NP_001300812.1 2020 32785987
911 OMIA000664-9615 dog Plott Hound Mucopolysaccharidosis I IDUA splicing Naturally occurring variant yes CanFam3.1 3 g.91534420C>T c.155+1G>A NM_001313883.1 rs1152388407 rs1152388407 1992 1339393
1190 OMIA000664-9615 dog Boston Terrier Mucopolysaccharidosis I IDUA insertion, small (<=20) Naturally occurring variant yes CanFam3.1 3 g.91534556_91534557insGGGGGCCG c.19_20insCGGCCCCC p.(R7Pfs) NM_001313883.1; NP_001300812.1 2020 32300136
1301 OMIA002320-9615 dog Lapponian Herder Progressive retinal atrophy IFT122 missense Naturally occurring variant yes CanFam3.1 20 g.5648046C>T c.3176G>A p.(R1059H) Protein and CDS positions based on XP_533734.2 and XM_533734.6 2021 33606121
1422 OMIA002524-9615 dog Height, IGF1-AS related IGF1-AS (LOC111090066) regulatory Naturally occurring variant no CanFam3.1 15 g.41219654T>C r.1043T>C XR_002614246.1; C allele associated with smaller height, T allele associated with larger height rs22397284 2022 35090588
584 OMIA000899-9615 dog Cardigan Welsh Corgi Severe combined immunodeficiency disease, X-linked IL2RG insertion, small (<=20) Naturally occurring variant yes CanFam3.1 X g.55483461_55483462insG c.583_584insC p.(R195Pfs*5) NM_001003201.1; NP_001003201.1; "a single nucleotide insertion causing a frameshift". The variant could also be described as a duplication of a cytosine (c.583dup). 1995 8571541
476 OMIA000899-9615 dog Basset Hound Severe combined immunodeficiency disease, X-linked IL2RG deletion, small (<=20) Naturally occurring variant yes CanFam3.1 X g.55484657_55484660del c.30_33del p.(L11Yfs) NM_001003201.1; NP_001003201.1; c.30_33delCCTC 1994 7829104
1253 OMIA002289-9615 dog Lhasa Apso Progressive retinal atrophy 4 (PRA4) IMPG2 insertion, gross (>20) Naturally occurring variant yes CanFam3.1 33 " LINE-1 insertion was identified within the critical region in this PRA-affected LA, situated within 200 bp upstream of the interphotoreceptor matrix proteoglycan 2 (IMPG2) gene within the following coordinates: CANFA33: 7,785,475-7,785,491" (Hitti-Malin et al., 2020) 2020 32894063
1034 OMIA002173-9615 dog Norwich Terrier Diffuse cystic renal dysplasia and hepatic fibrosis INPP5E splicing Naturally occurring variant yes CanFam3.1 9 g.49069064G>A c.1572+5G>A Dillard et al. (2018): "the identified variant introduces a novel splice site in INPP5E causing a frameshift and formation of a premature stop codon." 2018 30235266
606 OMIA001675-9615 dog American Pit Bull Terrier Cone-rod dystrophy 2 IQCB1 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 33 g.25078909_25078910insC c.952_53insC p.(S319Ifs*12) 2013 24045995
336 OMIA001886-9615 dog Karelian bear dog Norwegian Elkhound Chondrodysplasia, disproportionate short-limbed ITGA10 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 17 g.58703935G>A c.2083C>T p.(R695*) XM_845262.4; XP_850355.1 2013 24086591 Genomic coordinates in CanFam3.1 provided by Robert Kuhn
80 OMIA001000-9615 dog Scottish Deerhound Thrombasthenia ITGA2B missense Naturally occurring variant yes CanFam3.1 9 g.19054488G>C c.1192G>C p.(D398H) NM_001003163.2; NP_001003163.1; published as c.1193G>C / c.1100G>C; substitution of histidine for aspartic acid at position 398 (367). Coordinates in the table have been updated to a recent reference genome and or transcripts. 2001 11703027
369 OMIA001000-9615 dog Great Pyrenees Thrombasthenia ITGA2B splicing Naturally occurring variant yes CanFam3.1 9 g.19057144_19057157dup c.1360_1373dup NM_001003163.2; NP_001003163.1; experimentally confirmed splice defect; a 14-base duplication in exon 13 and defective splicing of intron 13 2000 11105947
53 OMIA000595-9615 dog Irish Setter Leukocyte adhesion deficiency, type I ITGB2 missense Naturally occurring variant yes CanFam3.1 31 g.38537012C>G c.107G>C p.(C36S) ROS_Cfam_1.0: g.38142116C>G ENSCAFT00845038113.1:c.107G>C ENSCAFP00845029856.1:p.Cys36Ser rs1152388503 rs1152388503 1999 10512685 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
754 OMIA002097-9615 dog Italian Spinone Ataxia, spinocerebellar ITPR1 complex rearrangement Naturally occurring variant yes 20 Forman et al. (2015) identified an expanded GAA-repeat in intron 35 of the ITPR1 gene in affected dogs. The wildtype sequence contains 8 GAA repeats. The expanded disease-associated alleles carry an estimated 318-651 GAA repeats. 2015 25354648
739 OMIA000809-9615 dog Polycythemia JAK2 delins, small (<=20) Naturally occurring variant yes CanFam3.1 1 g.93416506_93416510delinsTTCCT c.1849_1853delinsTTCCT p.(V617_C618delinsFL) XM_022421838.1; XP_022277546.1; published as a three-base change in codons 617 and 618 of JAK2 giving rise to V617F and C618L, SOMATIC MUTATION/MOSAICISM 2011 21320566
1154 OMIA002240-9615 dog Norwegian Buhund Ataxia, cerebellar, KCNIP4-related KCNIP4 missense Naturally occurring variant yes CanFam3.1 3 g.88890674T>C c.436T>C p.(T146R) XM_005618660.3; XP_005618717.1 2020 31999692
945 OMIA002089-9615 dog Jack Russell Terrier Parson Russell Terrier Smooth-Haired Fox Terrier Ataxia, cerebellar, KCNJ10-related KCNJ10 missense Naturally occurring variant yes CanFam3.1 38 g.22140300C>G c.627C>G p.(I209M) XM_545752.6; XP_545752.3 rs1152388456 2014 24708069 Genomic coordinates in CanFam3.1 and EVA ID provided by Zoe Shmidt and Robert Kuhn.
947 OMIA002089-9615 dog Malinois Spongy degeneration with cerebellar ataxia 1 (SDCA1) KCNJ10 missense Naturally occurring variant yes CanFam3.1 38 g.22140659T>C c.986T>C p.(L329P) XM_545752.6; XP_545752.3 2017 27966545 28007838 Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn.
612 OMIA002089-9615 dog Jack Russell Terrier Ataxia, cerebellar, KCNJ10-related KCNJ10 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 38 g.22141027insC c.*214_*215insC XM_005640901.1; Gast et al. (2016) "Bioinformatic analysis using RegRNA indicated the KCNJ10:g.22141027insC affecting regulation of gene expression via a regulatory RNA motif or miRNA target site." 2016 27724896
570 OMIA001737-9615 dog Coat colour, white spotting, KIT-related KIT insertion, small (<=20) Naturally occurring variant no CanFam3.1 13 g.47144513_47144514insA c.140_141insA p.(L48Vfs*10) NM_001003181.1; NP_001003181.1; "a 1-bp insertion of an adenine 70 bases downstream of the beginning of exon 2." The variant represents a duplication of an adenine and could also be described as c.140dup. 2013 23134432
464 OMIA001516-9615 dog Gastrointestinal stromal tumor KIT deletion, small (<=20) Naturally occurring variant yes CanFam3.1 13 g.47178531_47178536del c.1664_1669del NM_001003181.1; deletion of AGTGGA; SOMATIC MUTATION 2010 20950418
465 OMIA001516-9615 dog Gastrointestinal stromal tumor KIT deletion, small (<=20) Naturally occurring variant yes CanFam3.1 13 g.47178534_47178539del c.1667_1672del NM_001003181.1; deletion of GGAAGG; SOMATIC MUTATION 2010 20950418
459 OMIA001737-9615 dog Coat colour, white spotting, KIT-related KIT deletion, small (<=20) Naturally occurring variant no CanFam3.1 13 g.47179174_47179176del c.1936_1938del p.(L646del) NM_001003181.1; NP_001003181.1; published as c.1960_1962delCTC; p.(L654del); coordinates in the table have been updated to a recent reference genome and / or transcript 2013 23659249 Dr. Wanda M. Gerding provided additional sequence information to facilitate identification of the genomic position in CanFam3.1
757 OMIA001787-9615 dog Standard Poodle Squamous cell carcinoma of the digit KITLG repeat variation Naturally occurring variant yes 15 a copy number variant (CNV) of KITLG 2013 23555311
1145 OMIA002228-9615 dog Nova Scotia Duck Tolling retriever Poodle Pigment intensity KITLG repeat variation Naturally occurring variant no CanFam3.1 15 Weich et al. (2020): "the reference genome shows two tandem copies of the CNV spanning a region of approximately 12 kb. The CNV is located in an intergenic region about 152 kb upstream from the closest gene, KITLG." 200922: g. info moved here (g.29821450_29832950) until it can be standardised 2020 31936656
74 OMIA000819-9615 dog Shih-Tzu Prekallikrein deficiency KLKB1 missense Naturally occurring variant yes CanFam3.1 16 g.44501415A>T c.988T>A p.(F330I) 2011 20736516 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
364 OMIA001415-9615 dog Norfolk Terrier Hyperkeratosis, epidermolytic KRT10 splicing Naturally occurring variant yes CanFam3.1 9 g.21866234G>T c.1125+1G>T XM_038676544.1; XP_038532472.1; experimentally confirmed splice defect; a single base GT>TT change in the consensus 5'-splice site of intron 5 2005 16029326
936 OMIA002088-9615 dog Dogue de Bordeaux Palmoplantar keratoderma, nonepidermolytic, focal 1 KRT16 delins, small (<=20) Naturally occurring variant yes CanFam3.1 9 g.[21170012_21170013delinsCGGA;21170030del] c.[1147_1148delinsCGGA;1165del] p.(V383Rfs) XM_548101.4; XP_548101.2; published as p.(E392*) - protein coordinates updated to HGVS nomenclature 2015 25521457
35 OMIA000245-9615 dog Portugese water dog Curly coat KRT71 c^1 missense Naturally occurring variant no CanFam3.1 27 g.2539211C>T c.451C>T p.(R151W) NM_001197029.1; NP_001183958.1 rs23373415 2009 19713490 Genomic coordinates in CanFam3.1 and EVA ID provided by Robert Kuhn
1043 OMIA000245-9615 dog Bichon Frise Chesapeake Bay Retriever Curly-coated retriever Irish Terrier Lagotto Romagnolo Spanish water dog Curly coat KRT71 c^2 delins, small (<=20) Naturally occurring variant no CanFam3.1 27 g.2543230_2543237delinsACA c.1266_1273delinsACA p.(S422Rfs) NM_001197029.1; NP_001183958.1 2019 30444027 30456859 Genomic position in CanFam3.1 provided by Mateo Etcheveste and Robert Kuhn.
735 OMIA001371-9615 dog Staffordshire Bull Terrier L-2-hydroxyglutaricacidemia L2HGDH delins, small (<=20) Naturally occurring variant yes CanFam3.1 8 g.26723470_26723472delinsAAG c.1298_1300delinsCTT p.(L433_H434delinsPY) XM_858437.5; XP_863530.2; published as ENSCAFG00000014237; CanFam1.0: (c[1297T→C; 1299c→t]; p[Leu433Pro; His434Tyr]; coordinates in the table have been updated to a recent reference genome and / or transcript 2007 17475916
427 OMIA001371-9615 dog Yorkshire Terrier L-2-hydroxyglutaricacidemia L2HGDH missense Naturally occurring variant yes CanFam3.1 8 g.26760351T>C c.1A>G p.(M1?) XM_858437.5; published as p.(Met1?) 2012 22843824 Genomic coordinates in CanFam3.1 provided by Robert Kuhn
1399 OMIA002459-9615 dog Staffordshire Bull Terrier Congenital muscular dystrophy LAMA2 deletion, gross (>20) Naturally occurring variant yes CanFam3.1 1 g.67734331_67736575del c.610-1412_789+653del XM_003432522.2; 2022 34854126
1389 OMIA002459-9615 dog Italian Greyhound Congenital muscular dystrophy LAMA2 CMD nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 1 g.67883271G>A c.3285G>A p.(W1095*) XM_022419950.1; XP_022275658.1 2021 34828429
701 OMIA001677-9615 dog German Pointer Epidermolysis bullosa, junctionalis, LAMA3 LAMA3 insertion, gross (>20) Naturally occurring variant yes 7 "insertion (4818+207ins6.5 kb) of repetitive satellite DNA within intron 35 of the gene (LAMA3)" 2005 15737193
1324 OMIA001677-9615 dog Australian Cattle Dog X Epidermolysis bullosa, junctionalis, LAMA3 LAMA3 missense Naturally occurring variant yes CanFam3.1 7 g.64427161T>A c.8615T>A p.(D2867V) cDNA and protein positions based on XM_537297.6 and XP_537297.2, respectively 2021 34250689
1239 OMIA002269-9615 dog Australian Shepherd Epidermolysis bullosa, junctionalis, LAMB3-related LAMB3 JEB missense Naturally occurring variant yes CanFam3.1 7 g.8286613A>G c.1174T>C p.(C392R) NC_006589.3:g.8286613A>G; XM_014115071.2:c.1174T>C; XP_013970546.1:p.Cys392Arg 2020 32906717
1168 OMIA002251-9615 dog Airedale Terrier Surfactant metabolism dysfunction, pulmonary LAMP3 missense Naturally occurring variant yes CanFam3.1 34 g.16092728C>T c.1159G>A p.(E387K) 2020 32150563
1371 OMIA002460-9615 dog Labrador Retriever Muscular dystrophy-dystroglycanopathy LARGE nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 10 g.30357716C>T c.1363C>T p.(R455*) 2021 34654610
269 OMIA001596-9615 dog Lagotto Romagnolo Epilepsy, benign familial juvenile LGI2 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 3 g.85210442A>T c.1558A>T p.(K520*) XM_022416405.1; XP_022272113.1; published as c.1552A>T & p.(K518*); coordinates in the table have been updated to a recent reference genome and / or transcript 2011 21829378
362 OMIA002314-9615 dog Czechoslovakian wolfdog German Shepherd Dog Saarloo Tibetan Terrier Pituitary dwarfism LHX3 splicing Naturally occurring variant yes 9 "a deletion of one of six 7 bp [GTGTTTT] repeats in intron 5 of LHX3" 2011 22132174
608 OMIA002314-9615 dog German Shepherd Dog Pituitary dwarfism LHX3 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 9 g.49252491_49252493dup c.545_547dup p.(N182dup) NM_001197187.1; NP_001184116.1; published as c.545_547dupACA 2011 22132174 Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn.
108 OMIA002071-9615 dog Labrador Retriever Macular corneal dystrophy LOC489707 missense Naturally occurring variant yes CanFam3.1 5 g.75279699C>A c.814C>A p.(R272S) 2016 26585178 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1151 OMIA001928-9615 dog Golden Retriever Myasthenic syndrome, congenital, COLQ-related LOC608697 missense Naturally occurring variant yes CanFam3.1 23 g.27175559G>A c.880G>A p.(G294R) 2020 31769119
900 OMIA001928-9615 dog Labrador Retriever Myasthenic syndrome, congenital LOC608697 missense Naturally occurring variant yes CanFam3.1 23 g.27176737T>C c.1010T>C p.(I337T) XM_858278.5; XP_863371.1 2014 25166616 Genomic position in CanFam3.1 provided by Robert Kuhn
1314 OMIA002336-9615 dog Rottweiler Nonsyndromic hearing loss LOXHD1 missense Naturally occurring variant yes CanFam3.1 7 g.44806821G>C c.5747G>C p.(G1914A) XM_022421426.1, c.5747G>C; J9PAE4, p.(G1914A) (Hytönen et al., 2021) 2021 33983508
1260 OMIA001486-9615 dog Beagle Night blindness, congenital stationary, LRIT3-related LRIT3 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 32 g.30038863del c.763del p.(K245Nfs*5) c.763delG 2019 31578364
1093 OMIA000626-9615 dog Mixed breed Beta mannosidosis MANBA duplication Naturally occurring variant yes CanFam3.1 32 g.24057654_24057658dup c.2377_2381dup p.(H794Hfs) XM_005639236.3; XP_005639293.1; published as c.2377_2381dupTATCA 2019 31439511 Genomic and protein coordinates in CanFam3.1 provided by Robert Kuhn
1072 OMIA000626-9615 dog German Shepherd Dog Beta mannosidosis MANBA missense Naturally occurring variant yes CanFam3.1 32 g.24147500A>T c.560T>A p.(I187N) 2019 30983534
943 OMIA001432-9615 dog Miniature Long-haired Dachsund Cone-rod dystrophy 4 MAP9 deletion, gross (>20) Naturally occurring variant yes CanFam3.1 15 g.52905336_52927296del c.75+181_1378-215del XM_005629374.1; An approximately 22kb deletion "approximately 30 Mb upstream of RPGRIP1 . . . The deletion breakpoints were identified in MAP9 intron 10 and in a downstream partial MAP9 pseudogene." … " The size of the deletion based on genome build CanFam3.1 MAP9_corrected is 21,961 bp, with deletion breakpoints in intron 10 of MAP9 and MAP9." 2016 27017229
343 OMIA001199-9615 dog Irish Setter Labrador Retriever Red/yellow coat MC1R e^1 nonsense (stop-gain) Naturally occurring variant no CanFam3.1 5 g.63694334G>A c.916C>T p.(R306*) NM_001014282.2; NP_001014304.2; ROS_Cfam_1.0:g.63922309A>G rs851563576 rs851563576 2000 10602988 Genomic location provided by Professor Claire Wade
997 OMIA001199-9615 dog Alaskan Husky Siberian Husky White coat colour MC1R e^3 deletion, small (<=20) Naturally occurring variant no CanFam3.1 5 g.63694433_63694434del c.816_817del p.(I272Mfs*22) NM_001014282.2; NP_001014304.2; published as c.816_817delCT 2018 29932470 Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn.
34 OMIA001590-9615 dog Leonberger Malinois Black melanistic mask MC1R E^M missense Naturally occurring variant no CanFam3.1 5 g.63694460C>T c.790A>G p.(M264V) rs24201590 rs24201590 2003 12692165 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. Correction to genomic details provided by Professor Claire Wade.
32 OMIA001495-9615 dog Afghan Hound Saluki Grizzle MC1R E^G missense Naturally occurring variant no CanFam3.1 5 g.63695017C>A c.233G>T p.(G78V) NM_001014282.2; NP_001014304.2 2010 20525767 Genomic coordinates in CanFam3.1 provided by Robert Kuhn
998 OMIA001199-9615 dog Australian Cattle Dog Cream coat colour MC1R e^2 regulatory Naturally occurring variant no CanFam3.1 5 g.63695679C>G c.-432G>C NM_001014282.1 2018 29932470
1437 OMIA000631-9615 dog German Shepherd Dog Congenital idiopathic megaesophagus MCHR2 repeat variation Naturally occurring variant yes CanFam3.1 12 Bell et al. (2022): "Within the first intron of MCHR2, we identified a 33 bp variable number tandem repeat (VNTR) containing a consensus binding sequence for the T-box family of transcription factors. Across dogs and wolves, the major allele includes two copies of the repeat, whereas the predominant alleles in GSDs have one or three copies. The single-copy allele is strongly associated with CIM (P-val = 1.32x10-17), with homozygosity for this allele posing the most significant risk". 2022 35271580
819 OMIA001932-9615 dog Swedish Vallhund Progressive retinal atrophy, MERTK-related MERTK insertion, gross (>20) Naturally occurring variant yes CanFam3.1 17 An insertion of "a full-length [6.401 kb] LINE-1 element comprising the 15 bp target site duplication [indicated by 'ins' in the g. notation], a 5’UTR, 900 bp 5’ ORF1, a 49 bp intergenic spacer, a 3,828 bp 3’ ORF2, a 3’UTR and poly(A) tail. The LINE-1 element has been inserted in the same orientation as the MERTK gene.". 200922: g. info has been moved to here (g.36338043-36338057ins) until it can be standardised 2017 28813472 Genomic location provided by Sally Ricketts
472 OMIA002153-9615 dog Schnauzer-Beagle cross Neuroaxonal dystrophy MFN2 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 2 g.84289962_84289964del c.1617_1619del p.(E539del) NM_001284441.1; NP_001271370.1; published as c.1617_1619delGGA; genomic position considers 3' rule of the HGVS 2011 21643798 Genomic position in CanFam3.1 provided by Robert Kuhn.
1081 OMIA002197-9615 dog Coat colour, white or cream MFSD12 missense Naturally occurring variant no CanFam3.1 20 g.55850145C>T c.151C>T p.(R51C) ROS_Cfam_1.0:g.34222854T>A ENSCAFT00845015439.1:c.121T>A ENSCAFP00845011991.1:p.Cys41Ser rs22915955 rs22915955 2019 31117290 The cDNA coordinate kindly provided by Tosso Leeb 190523; alternate cDNA and protein coordinates in verbal description based on EVA ID.
551 OMIA001962-9615 dog Chihuahua Chinese Crested Dog Neuronal ceroid lipofuscinosis, 7 MFSD8 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 19 g.13010761del c.846del p.(F282Lfs*13) XM_014121438.2;XP_013976913.1; published as c.843delT; coordinates in the table have been updated to a recent reference genome and / or transcript 2015 25551667 Breed and p. 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.
1374 OMIA002465-9615 dog Italian Cane Corso Dental-skeletal-retinal anomaly MIA3 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 38 g.16920529_16920530del c.3822+3_3822+4del p.(V1238_K1274del) XM_005640835.3; XP_005640892.1; published as g.16920529_16920530delAT, leads to skipping of two exons: XM_005640835.3:r.3712_3822del 2021 34680893
424 OMIA000214-9615 dog Coat colour, white spotting MITF regulatory Naturally occurring variant no CanFam3.1 20 g.21836232_21836427delinsN[198] This 198bp SINEC-Cf insertion is the first of three possible regulatory variants described by Karlsson et al. (2007). 2007 17906626 The genomic location was kindly provided by Professor Claire Wade in August 2018.
976 OMIA002146-9615 dog Bull Terrier Miniature Bull Terrier Lethal acrodermatitis MKLN1 splicing Naturally occurring variant yes CanFam3.1 14 g.5731405T>G c.400+3A>C p.(G105Sfs*10) This variant is "located within the 5’-splice site of intron 4 of the MKLN1 gene" 2018 29565995
360 OMIA000031-9615 dog American Staffordshire Terrier Beagle Doberman Pinscher German Pinscher Large Munsterlander Miniature Pinscher Rhodesian Ridgeback Dilute MLPH d^1 splicing Naturally occurring variant yes CanFam3.1 25 g.48121642G>A c.-22G>A 2007 17519392 Variant coordinates obtained from or confirmed by EBI's Variant Effect Predictor (VEP) tool
1216 OMIA000031-9615 dog Chihuahua Hungarian mudi Hungarian pumi Italian Greyhound Pekingese Shetland Sheepdog Shih-Tzu Tibetan Mastiff Yorkshire Terrier Dilute MLPH d^3 insertion, small (<=20) Naturally occurring variant no CanFam3.1 25 g.48150749_50insC c.667_668insC p.(H223Pfs*41) "(NM_001103219.2: c.667_668insC or chr25: g.48150749_50insC" (van Buren et al. (2020) 2020 32531980
948 OMIA000031-9615 dog Chow Chow Sloughi Thai Ridgeback Dilute MLPH d^2 missense Naturally occurring variant yes CanFam3.1 25 g.48150787G>C c.705G>C p.(Q235H) 2018 29349785
1356 OMIA001819-9615 dog Cavalier King Charles Spaniel English Cocker Spaniel Xanthinuria, type II MOCOS deletion, small (<=20) Naturally occurring variant yes CanFam3.1 7 g.53989863del c.383del p.(A128Gfs*30) c.383delC; transcript ENSCAFT00000028243.4; genomic position based on supplementary table S3 (Tate et al., 2021) 2021 34584846
1355 OMIA001819-9615 dog Manchester Terrier Xanthinuria, type II MOCOS splicing Naturally occurring variant yes CanFam3.1 7 g.53995018C>A c.232G>T p.(G48_Y77del) ENSCAFT00000028243.4; “Ensembl VEP determined the consequence of the variant to be a missense, splice region variant … the variant results in the removal of all 90 bp (30 amino acids) of exon 2 (p.Gly48_Tyr77del); the genomic position is based on supplementary table S3 (Tate et al., 2021)”; transcript ENSCAFT00000028243.4 2021 34584846
1357 OMIA001819-9615 dog Dachshund Xanthinuria, type II MOCOS missense Naturally occurring variant yes CanFam3.1 7 g.54001790A>G c.137T>C p.(L46P) transcript ENSCAFT00000028243.4; genomic position based on supplementary table S3 (Tate et al., 2021) 2021 34584846
342 OMIA002028-9615 dog Italian hound Myeloperoxidase deficiency MPO nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 9 g.32929382G>A c.1936C>T p.(R646*) XM_847352.4; XP_852445.2; published as c.1987C>T (Ensembl transcript ID:ENSCAFT00000027699) 2016 27296514
470 OMIA000683-9615 dog Whippet Muscular hypertrophy (double muscling) MSTN deletion, small (<=20) Naturally occurring variant yes CanFam3.1 37 g.729362_729363del c.939_940delTG p.(C313*) NM_001002959.1; NP_001002959.1; published as c.939_940delTG; genomic coordinates in accordance with HGVS 3'-rule 2007 17530926 Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn.
112 OMIA001561-9615 dog Shar-Pei Periodic Fever Syndrome MTBP missense Naturally occurring variant yes CanFam3.1 13 g.19383758G>A c.2623G>A p.(E875K) rs1152388482 rs1152388482 2017 28472921 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
63 OMIA001508-9615 dog Labrador Retriever Myotubular myopathy 1 MTM1 missense Naturally occurring variant yes CanFam3.1 X g.118885117C>A c.465C>A p.(N155K) XM_005641935.3; XP_005641992.1 rs1152388426 2010 20682747 Genomic coordinates in CanFam3.1 and EVA ID provided by Robert Kuhn
91 OMIA001508-9615 dog Rottweiler Myotubular myopathy 1 MTM1 missense Naturally occurring variant yes CanFam3.1 X g.118901282A>C c.1151A>C p.(Q384P) XM_005641935.3; XP_005641992.1 2015 25664165 Genomic position in CanFam3.1 provided by Robert Kuhn and Mateo Etcheveste.
55 OMIA001608-9615 dog Pug May-Hegglin anomaly MYH9 missense Naturally occurring variant yes CanFam3.1 10 g.28120346G>A c.5521G>A p.(E1841L) NM_001110767.1; NP_001104237.1; previously incorrectly listed in OMIA as p.(Q1841L) (corrected 11/2/2022) 2011 21554370 Genomic coordinates in CanFam3.1 provided by Robert Kuhn.
1372 OMIA001501-9615 dog Miniature dachshund Coat colour dilution and neurological defects MYO5A insertion, small (<=20) Naturally occurring variant yes CanFam3.1 30 g.18004551_18004552insT c.4973_4974insA p.(N1658Kfs*28). cDNA and protein positions based on XM_022412522.1 and XP_022268230.1, respectively 2021 34680875
1079 OMIA002148-9615 dog Doberman Pinscher Deafness, bilateral, and vestibular dysfunction MYO7A missense Naturally occurring variant yes CanFam3.1 21 g.21563111C>T c.3719G>A p.(R1240Q) 2019 31097876
956 OMIA001342-9615 dog Schipperke Mucopolysaccharidosis IIIB NAGLU insertion, gross (>20) Naturally occurring variant yes CanFam3.1 9 g.20407670_20407671ins[A[(40_70)];20407660_20407670] c.2110_2111ins[A[(40_70)];2100_2110] XM_548088; an insertion of 40 to 70 A nucleotides and an 11bp duplication of the sequence directly upstream of the poly-A 2020 32081995
986 OMIA001788-9615 dog Great Dane Rottweiler Leukoencephalomyelopathy NAPEPLD insertion, small (<=20) Naturally occurring variant yes CanFam3.1 18 g.16987327_16987328insC c.345_346insC p.(E116Rfs*186) 2018 29643404
985 OMIA001788-9615 dog Leonberger Leukoencephalomyelopathy NAPEPLD missense Naturally occurring variant yes CanFam3.1 18 g.16987520G>C c.538G>C p.(A180P) 2018 29643404
1315 OMIA002348-9615 dog English Cocker Spaniel Retinal dysplasia NDP insertion, small (<=20) Naturally occurring variant yes CanFam3.1 X g.37950668_37950668insC c.653_654insC p.(M114Hfs*16) 2021 33945575
474 OMIA002120-9615 dog Greyhound Polyneuropathy NDRG1 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 13 g.29691070_29691079del10 c.1080_1089del10 p.(R361Sfs*60) NM_001284434.1; NP_001271363.1 2010 20582309 Genomic position in CanFam3.1 provided by Robert Kuhn and Mateo Etcheveste.
73 OMIA002120-9615 dog Alaskan Malamute Polyneuropathy NDRG1 missense Naturally occurring variant yes CanFam3.1 13 g.29714606C>A c.293G>T p.(G98V) NM_001284434.1; NP_001271363.1 2013 23393557 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
961 OMIA002137-9615 dog American Bulldog Nemaline myopathy, NEB-related NEB nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 19 g.52734272G>T p.(S8042*) NP_001258137.1 2016 27215641
1083 OMIA002198-9615 dog Giant Schnauzer Progressive retinal atrophy, NECAP1-related NECAP1 missense Naturally occurring variant yes CanFam3.1 27 g.37468611G>A c.544G>A p.(G182R) 2019 31117272
632 OMIA000218-9615 dog Collie eye anomaly NHEJ1 deletion, gross (>20) Naturally occurring variant yes CanFam3.1 37 g.25698028_25705826del c.588+462_588+8260del XM_005640671.1; a deletion of 7799bp in the NHEJ1 gene 2007 17916641
756 OMIA000690-9615 dog Beagle Chihuahua Miniature Wirehaired Dachshund Newfoundland Pembroke Welsh Corgi Myoclonus epilepsy of Lafora NHLRC1 repeat variation Naturally occurring variant yes 35 19 to 26 copies of a sequence of 12 nucleotides (12-mer; dodecamer) in the canine EPM2B gene (now called NHLRC1) 2005 15637270
563 OMIA001980-9615 dog American Bulldog American Bully Ichthyosis, NIPAL4-related NIPAL4 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 4 g.52737379del c.744delC p.(I249*) 2017 28122049
622 OMIA000938-9615 dog Weimaraner Spinal dysraphism NKX2-8 delins, small (<=20) Naturally occurring variant yes CanFam3.1 8 g.15149895delinsAA c.449delinsTT p.(A150Vfs*6) XM_847109.4; XP_852202.1 2013 23874236
1096 OMIA002206-9615 dog Alaskan Malamute Ciliary dyskinesia, primary, NME5-related NME5 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 11 g.25792084del c.43delA p.(T15Lfs*56) XM_003639378.4:c.43delA; XP_003639426.1:p.(Thr15LeufsTer56) 2019 31479451
634 OMIA001455-9615 dog Miniature Wirehaired Dachshund Standard wire-haired dachshund Cone-rod dystrophy, Standard Wire-haired Dachshund NPHP4 deletion, gross (>20) Naturally occurring variant yes CanFam3.1 5 g.59912991_59913168del c.479_526+130del NM_001135788.1; 178-bp deletion in exon/intron 5 of NPHP4 (nephronophthisis 4, also known as nephroretinin) 2008 18687878
1171 OMIA002254-9615 dog Mixed breed Glucocorticoid resistance NR3C1 splicing Naturally occurring variant yes 2 c.2032_2033insN[69] An insertion of "69 nucleotides between nucleotides 2032 and 2033 compared with dog wild type GR [i.e. NR3C1]. These extra 69 nucleotides matched a part of the nucleotide sequence of dog genomic DNA corresponding to intron 6 . . . . Insertion of these extra 69 nucleotides between exons 6 and 7 introduced a frameshift and a premature termination codon (TGA) 15 bp downstream of the insertion. This insertion is thus predicted to result in a truncated protein of 682 amino acids, compared to the normal (wild type) 780 amino acids" (Yamanaka et al., 2019) The cause of this splice variant could not be determined in genomic DNA. 2019 31651346
1264 OMIA002296-9615 dog Yorkshire Terrier XY DSD (Disorder of Sexual Development), NR5A1-related NR5A1 deletion, gross (>20) Naturally occurring variant yes 9 "a large deletion consisting of four exons of the NR5A1 gene" (Nowacka-Woszuk et al., 2020) 2020 33128907
790 OMIA002117-9615 dog Labrador Retriever CHILD-like syndrome NSDHL deletion, gross (>20) Naturally occurring variant yes CanFam3.1 X g.120749179_120763577del c.507+220_*9662del XM_005641965.1; deletion of 14,399bp 2017 28739597
1243 OMIA002117-9615 dog Chihuahua Verrucous epidermal keratinocytic nevi NSDHL missense Naturally occurring variant yes CanFam3.1 X g.120752468G>A c.700G>A p.(G234R) CanFam3.1 ChrX:120,752,468G>A; XM_014111859.2:c.700G>A; XP_013967334.1: p.Gly234Arg 2019 31571289
1268 OMIA002117-9615 dog Chihuahua Verrucous epidermal keratinocytic nevi NSDHL deletion, small (<=20) Naturally occurring variant yes CanFam3.1 X g.120752486_120752490del c.718_722delGAACA p.(E240Pfs*17) NC_006621.3: g.120,752,486_120,752,490delGAACA; XM_014111859.2:c.718_722delGAACA; XP_013967334.1:p.(Glu240Profs*17) (Christen et al., 2020) 2020 33143176
846 OMIA002130-9615 dog German Spitz Coat colour, oculocutaneous albinism, OCA2-related OCA2 splicing Naturally occurring variant yes CanFam3.1 3 g.31715704A>C "LOC100855460 (XM_005618224.1:c.377+2T>G LT844587.1:c.-45+2T>G) . . . Comparative sequence analyses revealed that LOC100855460 actually represents the 5'-end of the canine OCA2 gene. The CanFam 3.1 reference genome assembly is incorrect and separates the first two exons from the remaining exons of the OCA2 gene. We amplified a canine OCA2 cDNA fragment by RT-PCR and determined the correct full-length mRNA sequence (LT844587.1)." 2017 28973042
454 OMIA001564-9615 dog Greater Swiss Mountain Bleeding disorder, P2RY12-related P2RY12 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 23 g.45909987_45909989del c.516_518del p.(S173del) NM_001003365.1; NP_001003365.1; c.516_518delCTC; "a 3 base-pair deletion predicted to result in elimination of a serine from the extracellular domain was identified in the gene encoding P2RY12" 2011 21554368
103 OMIA002031-9615 dog Lundehund Lundehund syndrome P3H2 missense Naturally occurring variant yes CanFam3.1 34 g.22046092C>G c.1849G>C p.(E617Q) XM_535843.6; XP_535843.2 2016 27485430
475 OMIA001314-9615 dog Cardigan Welsh Corgi Rod-cone dysplasia 3 PDE6A deletion, small (<=20) Naturally occurring variant yes CanFam3.1 4 g.59145362del c.1847del p.(N616Tfs*29) NM_001003073.1; NP_001003073.1; published as c.1940delA (based on GenBank Z68340) 1999 10393029 Genomic coordinates in CanFam3.1 provided by Robert Kuhn
582 OMIA001669-9615 dog Sloughi Rod-cone dysplasia 1a PDE6B insertion, small (<=20) Naturally occurring variant yes CanFam3.1 3 g.91747685_91747686insACTTCAGG c.2448_2449insTGAAGTCC p.(K817*) NM_001002934.2; NP_001002934.2; "an 8-bp insertion after codon 816" of the PDE6B gene 2000 11124530
282 OMIA000882-9615 dog Irish Setter Rod-cone dysplasia 1 PDE6B nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 3 g.91747713C>T c.2421G>A p.(W807*) NM_001002934.1; NP_001002934.1 1993 8387203
528 OMIA001674-9615 dog American Staffordshire Terrier Cone-rod dystrophy 1 PDE6B deletion, small (<=20) Naturally occurring variant yes CanFam3.1 3 g.91747728_91747730del c.2404_2406del p.(802del) NM_001002934.1; NP_001002934.1 2013 24045995
1230 OMIA002282-9615 dog Spanish water dog PRA, PDE6B-related PDE6B deletion, small (<=20) Naturally occurring variant yes CanFam3.1 3 g.91749865_91749870del c.2218-2223del p.(F740_F741del) NM_001002934.1; NP_001002934.1 2020 32639685
281 OMIA001406-9615 dog Clumber Spaniel Sussex Spaniel Pyruvate dehydrogenase deficiency PDP1 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 29 g.38788845C>T c.829C>T p.(Q277*) XM_005638127.1; XP_005638184.1; published as c.754C>T, p.(Q252*); coordinates in the table have been updated to a recent reference genome and / or transcript 2007 17095275
271 OMIA000421-9615 dog American Cocker Spaniel English Springer Spaniel Whippet Glycogen storage disease VII PFKM nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 27 g.6620819C>T c.2228G>A p.(W473*) NM_001003199.1; NP_001003199.1 1996 8702726 Genomic and protein coordinates in CanFam3.1 provided by Robert Kuhn
45 OMIA000421-9615 dog Wachtelhund Glycogen storage disease VII PFKM missense Naturally occurring variant yes CanFam3.1 27 g.6631627G>A c.550C>T p.(R184W) NM_001003199.1; NP_001003199.1 2012 22446493 Genomic coordinates in CanFam3.1 provided by Robert Kuhn and Zoe Shmidt.
109 OMIA002084-9615 dog Soft Coated Wheaten Terrier Dyskinesia, paroxysmal, PIGN PIGN missense Naturally occurring variant yes CanFam3.1 1 g.14705240C>T c.398C>T p.(T133I) XM_022415750.1; XP_022271458.1 2016 27891564 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1305 OMIA002324-9615 dog Parson Russell Terrier Epilepsy, mitochondrial dysfunction and neurodegeneration PITRM1 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 2 g.32188565_32188570del c.175_180del p.(L59_S60del) ENSCAFT00000008673; ENSCAFT00000008673.4 2021 33835239
72 OMIA000807-9615 dog Bull Terrier Polycystic kidney disease PKD1 missense Naturally occurring variant yes CanFam3.1 6 g.38856816G>A c.9559G>A p.(E3187K) rs397509460 rs397509460 2011 21818326 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
897 OMIA000844-9615 dog Basenji Pyruvate kinase deficiency of erythrocyte PKLR deletion, small (<=20) Naturally occurring variant yes CanFam3.1 7 g.42267825del c.433del p.(P145Rfs*23) NM_001256262.1; NP_001243191.1 1994 7520391
896 OMIA000844-9615 dog Labrador Retriever Pyruvate kinase deficiency of erythrocyte PKLR nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 7 g.42268632C>T c.799C>T p.(Q267*) NM_001256262.1; NP_001243191.1 2012 22805166 20181218 Thanks to Maarten de Groot for advising FN of the genomic location
894 OMIA000844-9615 dog Pug Pyruvate kinase deficiency of erythrocyte PKLR missense Naturally occurring variant yes CanFam3.1 7 g.42268681T>C c.848T>C p.(V283A) NM_001256262.1; NP_001243191.1 2012 22805166
895 OMIA000844-9615 dog Beagle Pyruvate kinase deficiency of erythrocyte PKLR missense Naturally occurring variant yes CanFam3.1 7 g.42268927G>A c.994G>A p.(G332S) NM_001256262.1; NP_001243191.1 2012 22805166
898 OMIA000844-9615 dog West Highland White Terrier Pyruvate kinase deficiency of erythrocyte PKLR insertion, small (<=20) Naturally occurring variant yes CanFam3.1 7 g.42269752_42269757dup c.1333_1338dup p.(K445_T446dup) NM_001256018.1; NP_001242947.1; the original publication described "a 6 base pair insertion in exon 10". In accordance with HGVS recommendations, the variant is annotated in this table as a 6 bp duplication and updated a recent reference sequences. This shifts the position of the predicted amino acid change by about 21 amino acids. 1999 10490091
417 OMIA001864-9615 dog Chesapeake Bay Retriever Golden Retriever Ectodermal dysplasia/skin fragility syndrome PKP1 splicing Naturally occurring variant yes CanFam3.1 7 g.1966531C>G c.202+1G>C 2012 22384142 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
113 OMIA002105-9615 dog Papillon Neuroaxonal dystrophy, PLA2G6-related PLA2G6 missense Naturally occurring variant yes CanFam3.1 10 g.26544820G>A c.1579G>A p.(T527A) 2017 28107443 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
351 OMIA002080-9615 dog Eurasier Epidermolysis bullosa, simplex, PLEC PLEC nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 13 g.37461941C>T c.3947G>A p.(W1316*) CanFam3 chr13: g.37461941G>A; XM_539204.6:c.3947G>A; XP_539204.2:p.Trp1316Stop: 2016 27878870 Updated variant coordinates kindly provided by Tosso Leeb on 8 May 2020
412 OMIA002020-9615 dog Scottish Terrier Ligneous membranitis PLG splicing Naturally occurring variant yes 1 c.1256+2T>A possibly NM_001286960.1 c.1262+2T>A; CanFam3.1 g.49514382A>T 2015 26360520
1338 OMIA002020-9615 dog Maltese Ligneous membranitis PLG deletion, gross (>20) Naturally occurring variant yes CanFam3.1 1 g.49534880_49540865del c.-5645_49+292del XM_005615560.1; a deletion of 5986 bp involving exon 1 and the flanking region 2021 34370320
1078 OMIA002195-9615 dog Welsh springer spaniel Cardiomyopathy, dilated, PLN-related PLN missense Naturally occurring variant yes CanFam3.1 1 g.58588129C>T c.26G>A p.(R9H) NM_001003332.1; NP_001003332.1 2019 30794913 c. coordinate kindly provided by Tosso Leeb
82 OMIA000770-9615 dog Springer Spaniel Tremor, X-linked PLP1 missense Naturally occurring variant yes CanFam3.1 X g.77200833A>C c.110A>C p.(H37P) 1990 1723945 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
697 OMIA000211-9615 dog Classic Merle PMEL M insertion, gross (>20) Naturally occurring variant yes 10 "an insertion of a tRNA-derived SINE . . . . The insertion occurs at the boundary of intron 10 and exon 11 and is flanked by a 15-bp target site duplication . . . . The SINE insertion is in reverse orientation, with the 5' end closer to exon 11." Allele M (265-269bp); phenotype = Classic Merle = "standard" of Murphy et al. (2018) 2006 16407134
1103 OMIA000211-9615 dog No Merle pattern - solid coat PMEL Mc insertion, gross (>20) Naturally occurring variant no 10 Mc (208-230bp); phenotype = No Merle pattern – solid coat; = "cryptic" of Murphy et al. (2018) 2018 30235206
1104 OMIA000211-9615 dog No Merle pattern - solid coat PMEL Mc+ insertion, gross (>20) Naturally occurring variant no 10 Mc+ (231-245bp); phenotype = No Merle pattern – solid coat; = "cryptic" of Murphy et al. (2018) 2018 30235206
1105 OMIA000211-9615 dog No Merle pattern - diluted - brownish hue PMEL Ma insertion, gross (>20) Naturally occurring variant no 10 Ma (247-254bp); phenotype = No Merle pattern – diluted–brownish hue; = "cryptic" of Murphy et al. (2018) 2018 30235206
1106 OMIA000211-9615 dog Muted, undefined, diluted - brownish hue PMEL Ma+ insertion, gross (>20) Naturally occurring variant no 10 Ma+ (255-264bp); phenotype = Muted, undefined, diluted–brownish hue = "dilute" of Murphy et al. (2018) 2018 30235206
1107 OMIA000211-9615 dog Minimal Merle, areas deleted to white, tweed PMEL Mh insertion, gross (>20) Naturally occurring variant yes 10 Mh (269-277bp); phenotype = Minimal Merle, areas deleted to white, tweed = "harlequin" of Murphy et al. (2018) 2018 30235206
616 OMIA001588-9615 dog Golden Retriever Ichthyosis, PNPLA1-related PNPLA1 delins, small (<=20) Naturally occurring variant yes CanFam3.1 12 g.5417388_5417390delinsTACTACTA c.1445_1447delinsTACTACTA p.(N482Ifs*11) NM_001290109.2; NP_001277038.2 2012 22246504
809 OMIA001258-9615 dog Labrador Retriever Obesity POMC deletion, small (<=20) Naturally occurring variant yes CanFam3.1 17 g.19431807_19431821del c.561_575del p.(E188fs) XM_844370.3 2016 27157046
1291 OMIA002315-9615 dog Karelian bear dog Pituitary dwarfism POU1F1 splicing Naturally occurring variant yes CanFam3.1 31 g.784534C>A c.605-3C>A Kyöstilä et al. (2021) "the NNSPLICE 0.9 splice prediction tool (Reese et al. 1997) predicted this variant to weaken the splice acceptor of POU1F1 intron 4 from a score of 0.97 to 0.67." 2021 33550451
423 OMIA001504-9615 dog Italian Cane Corso Neuronal ceroid lipofuscinosis, 1 PPT1 splicing Naturally occurring variant yes CanFam3.1 15 g.2860424G>A c.124+1G>A 2017 28008682
1068 OMIA001311-9615 dog Miniature Schnauzer Photoreceptor dysplasia PPT1 PPT1^dci complex rearrangement Naturally occurring variant yes CanFam3.1 15 g.2874661_2875048con2877563_2877607inv 2019 30541930
579 OMIA001504-9615 dog Dachshund Neuronal ceroid lipofuscinosis, 1 PPT1 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 15 g.2883477_2883478insC c.736_737insC p.(F246Lfs*29) NM_001010944.1; NP_001010944.1 2010 20494602 p. 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.
76 OMIA001298-9615 dog American Cocker Spaniel Australian Cattle Dog Australian Shepherd Australian Stumpy Tail Cattle Dog Chesapeake Bay Retriever Chinese Crested Dog English Cocker Spaniel Entlebucher mountain dog Finnish Lapphund Golden Retriever Karelian bear dog Kuvasz Labrador Retriever Lapponian Herder Miniature Poodle Norwegian Elkhound Nova Scotia Duck Tolling retriever Portugese water dog Spanish water dog Swedish Lapphund Toy Poodle Yorkshire Terrier Progressive rod-cone degeneration PRCD missense Naturally occurring variant yes CanFam3.1 9 g.4188663C>T c.5G>A p.(C2Y) ROS_Cfam_1.0:g.4864649C>T ENSCAFT00845030294.1:c.5G>A ENSCAFP00845023755.1:p.Cys2Tyr rs852451717 rs852451717 2006 16938425 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
283 OMIA000220-9615 dog Jack Russell Terrier Severe combined immunodeficiency disease, autosomal PRKDC nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 29 g.49588C>A c.10849G>T p.(E3617*) NM_001006651.2; NP_001006652.2 ; published as c.10879G>T; p.(E3627*); coordinates in the table have been updated to a recent reference genome and / or transcript 2002 11867233
1373 OMIA001485-9615 dog Dogo Argentino Dwarfism, disproportionate PRKG2 splicing Naturally occurring variant yes CanFam3.1 32 g.5299068C>A c.1634+1G>T cDNA position based on XM_022413533.1 2021 34680883
33 OMIA001454-9615 dog Great Dane Harlequin PSMB7 missense Naturally occurring variant no CanFam3.1 9 g.58530295T>G c.146T>G p.(V49G) XM_022422504.1; XP_022278212.1 2011 21256207 Genomic position in CanFam3.1 provided by Mateo Etcheveste.
698 OMIA001515-9615 dog Great Dane Colorectal hamartomatous polyposis and ganglioneuromatosis PTEN insertion, gross (>20) Naturally occurring variant yes 26 "Duplication of PTEN" 2011 20952721
988 OMIA002196-9615 dog Doberman Pinscher Deafness, unilateral and vestibular dysfunction PTPRQ insertion, small (<=20) Naturally occurring variant yes CanFam3.1 15 g.22989897_22989898insA c.9230_9231insA p.(N3077Kfs*24) XM_022428131.1; XP_022283839.1; published as an A insertion at CFA15: 22 989 894 and p.(N2032Kfs*24) based on ENSCAFT00000009346.4 - renamed due to HGVS 3'rule and RefSeq IDs 2018 29460419
88 OMIA001913-9615 dog Gordon Setter Old English Sheepdog Ataxia, cerebellar, in Old English Sheepdogs and Gordon Setters RAB24 missense Naturally occurring variant yes CanFam3.1 4 g.36055678A>C c.113A>C p.(Q38P) XM_005619162.3; XP_005619219.1 2014 24516392 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
730 OMIA001970-9615 dog Alaskan Husky Polyneuropathy, ocular abnormalities and neuronal vacuolation RAB3GAP1 insertion, gross (>20) Naturally occurring variant yes CanFam3.1 19 g.37903870_37903871insN[218] c.614_615insN[218] XM_851254.3; published as 218 bp SINE insertion in exon 7; sequence of the mutant allele was submitted to ENA (accession LN864704); transcript analysis identified a new internal splice acceptor site within the SINE insertion resulting in a novel “exon 7” 2015 26596647
546 OMIA001970-9615 dog Black Russian Terrier Rottweiler Polyneuropathy, ocular abnormalities and neuronal vacuolation RAB3GAP1 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 19 g.37908634del c.743del p.P248Lfs*4 XM_022406115.1; XP_022261823.1, published as c.743delC rs851283827 2016 26607784 Genomic coordinates in CanFam3.1 and EVA ID provided by Zoe Shmidt and Robert Kuhn.
284 OMIA001574-9615 dog Frisian Water Dog Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive RAG1 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 18 g.31631772C>A c.2893G>T p.(E965*) 2011 21293384 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1138 OMIA002222-9615 dog Miniature Bull Terrier Laryngeal paralysis, RAPGEF6-related RAPGEF6 insertion, gross (>20) Naturally occurring variant yes CanFam3.1 11 g.19841331insN[36] c.1793_1794insTTTTTTTTTTTTTTTTTTTTTAGCCCTTGAAATTTT p.(I587Pfs*5) XM_846793.5; XP_851886.2 2019 31647804
585 OMIA002433-9615 dog Eskimo Spitz Thrombopathia RASGRP2 duplication Naturally occurring variant yes CanFam3.1 18 g.52417256dup c.452dup p.(D151Efs) XM_849829.5; XP_854922.1; published as c.452-453insA 2007 17656327
477 OMIA002433-9615 dog Basset Hound Thrombopathia RASGRP2 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 18 g.52417313_52417315del c.509_511del p.(F170del) XM_849829.5; XP_854922.1 2007 17656327
285 OMIA002433-9615 dog Landseer Thrombopathia RASGRP2 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 18 g.52419245C>T c.982C>T p.(R328*) XM_849829.5; XP_854922.1 2007 17656327
1323 OMIA002365-9615 dog Giant Schnauzer Standard Schnauzer Cardiomyopathy, dilated RBM20 deletion, gross (>20) Naturally occurring variant yes 28 22 bp deletion and frame shift in exon 11 of RBM20 2014 Reference not in PubMed; see OMIA 002365-9615 for reference details
993 OMIA002151-9615 dog Irish soft-coated wheaten terrier Microphthalmia, isolated, with coloboma RBP4 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 28 g.7830265_7830267del c.90_92del p.(K31del) XM_534969.6; XP_534969.3; published as c.282_284delGAA and p.(K30del); coordinates in the table have been updated to a recent reference genome and transcript, and are in accordance with the HGVS 3'-rule 2018 29847795
710 OMIA001260-9615 dog Collie Rod-cone dysplasia 2 RD3 insertion, gross (>20) Naturally occurring variant yes 7 "22 bp insertion changes the last 61 amino acids of the encoded protein" 2009 19130129
29 OMIA001346-9615 dog English Mastiff Autosomal dominant PRA RHO missense Naturally occurring variant yes CanFam3.1 20 g.5637394G>C c.11C>G p.(T4R) 2002 11972042 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
468 OMIA001222-9615 dog Briard Leber congenital amaurosis (congenital stationary night blindness) RPE65 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 6 g.76893207_76893210del c.460_463del p.(K154Lfs*53) NM_001003176.1; NP_001003176.1; 4 bp AAGA deletion in RPE65 1998 9808841
688 OMIA000831-9615 dog Weimaraner Progressive retinal atrophy, X-linked, type 1 RPGR deletion, gross (>20) Naturally occurring variant yes X "a large deletion [maximum size 5,006 bp] comprising the first four exons of the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene" 2016 27398221
481 OMIA001518-9615 dog Mongrel Progressive retinal atrophy, X-linked, type 2 RPGR deletion, small (<=20) Naturally occurring variant yes ROS_Cfam_1.0 X g.33126437_33126438del c.3472_3473del p.E1158Gfs*212 published as "a two-nucleotide deletion (delGA) in c.1084-1085" [GenBank accession no. AF385629] in the exon ORF15 of the canine RPGR gene; updated c.DNA and protein positions kindly provided by Leonardo Murgiano [15/2/20022] 2002 11978759
480 OMIA000831-9615 dog Samoyed Siberian Husky Progressive retinal atrophy, X-linked, type 1 RPGR deletion, small (<=20) Naturally occurring variant yes ROS_Cfam_1.0 X g.33126490_33126494del c.3416_3420del p.(R1139Ifs*2) published as a "five-nucleotide deletion (delGAGAA) between 1028 and 1032" in exon ORF15 of the canine RPGR gene [GenBank accession no. AF385629]; updated c.DNA and protein positions kindly provided by Leonardo Murgiano [15/2/20022] 2002 11978759
699 OMIA001432-9615 dog Miniature Long-haired Dachsund Cone-rod dystrophy 4 RPGRIP1 insertion, gross (>20) Naturally occurring variant yes CanFam3.1 15 g.18332036_18332037ins[A[29];GGAAGCAACAGGATG] c.142_143ins[A[29];GGAAGCAACAGGATG] p.(I49Kfs*26) NM_001313773.1; NP_001300702.1; published as a 44-bp insertion in exon 2 of the RPGRIP1 gene; comprising a poly(A) stretch flanked by a perfect 15-bp duplication: g.8228_8229insA29GGAAGCAACAGGATG 2006 16806805
703 OMIA001531-9615 dog Furnishings (moustache and eyebrows) RSPO2 insertion, gross (>20) Naturally occurring variant no 13 a 167bp insertion "within the 3'UTR at position 11,634,766", which leads to a threefold increase in transcription of RSPO2 in muzzle skin of dogs with furnishings 2009 19713490
707 OMIA001498-9615 dog Portugese water dog Improper coat RSPO2 insertion, gross (>20) Naturally occurring variant yes 13 "167 bp 3' UTR insertion in RSPO2" 2010 20562213
54 OMIA000621-9615 dog Collie Doberman Pinscher German Shepherd Dog Labrador Retriever Malignant hyperthermia RYR1 missense Naturally occurring variant yes CanFam3.1 1 g.114562165A>G c.1643T>C p.(V548A) XM_022425933.1 c.1643C>T; XP_022281641.1; published as c.1640T>C ; p.(V547A) "The nucleotide sequences of canine regions I and II have been submitted to GenBank (accession No. A302128 and AF302129, respectively)" (Roberts et al., 2001) 2001 11575546
359 OMIA001876-9615 dog Basenji Progressive retinal atrophy, Basenji SAG extension (stop-lost) Naturally occurring variant yes CanFam3.1 25 g.44843440T>C c.1216T>C p.(*405Rext*25) 2013 24019744 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1233 OMIA002284-9615 dog Miniature Schnauzer Polyneuropathy, SBF2-related SBF2 splicing Naturally occurring variant yes CanFam3.1 21 g.33080022C>A c.2363+1G>T p.(G775Vfs*5) 2019 31772832
552 OMIA002016-9615 dog Wirehaired Fox Terrier Van den Ende-Gupta syndrome SCARF2 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 26 g.30237714_30237715del c.1873_1874del p.(S625Gfs*15) XM_022410347.1; XP_022266055.1; published as c.865_866delTC, p.(S289Gfs*15); coordinates in the table have been updated to a recent reference genome and / or transcript 2016 27187611
1077 OMIA002194-9615 dog Alpine Dachsbracke Ataxia, spinocerebellar, SCN8A-related SCN8A missense Naturally occurring variant yes CanFam3.1 27 g.3179029C>A c.4898G>T p.(G1633V) 2019 31083464
28 OMIA001692-9615 dog Finnish Hound Ataxia, cerebellar, progressive early-onset SEL1L missense Naturally occurring variant yes CanFam3.1 8 g.53778458A>G c.1972T>C p.(S658P) 2012 22719266 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1334 OMIA002367-9615 dog Belgian Shepherd CNS atrophy with cerebellar ataxia SEPP1 deletion, gross (>20) Naturally occurring variant yes CanFam3.1 4 g.66946539_66963863del c.-6582_*516del NM_001115118.1; ; 17325bp deletion includes the entire protein coding sequence of SELENOP (also called SEPP1) 2021 34339417
25 OMIA001483-9615 dog Dachshund Osteogenesis imperfecta_Dachshund SERPINH1 missense Naturally occurring variant yes CanFam3.1 21 g.23033735A>G c.977T>C p.(L326P) 2009 19629171 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1280 OMIA002305-9615 dog Miniature dachshund Muscular dystrophy, limb-girdle, type R3 SGCA nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 9 g.26166312G>A c.G224A p.(W75*) 2021 33407862
802 OMIA002122-9615 dog Boston Terrier Muscular dystrophy, limb-girdle, type 2F SGCD deletion, small (<=20) Naturally occurring variant yes CanFam3.1 4 g.53353932_53353933del c.534_535del p.(E178Dfs*3) XM_005619257.3; XP_005619314.1, published as c.534_535delGA 2017 28702169 Genomic coordinates in CanFam3.1 provided by Robert Kuhn
928 OMIA002122-9615 dog Boston Terrier Muscular dystrophy, limb-girdle, type 2F SGCD delins, gross (>20) Naturally occurring variant yes CanFam3.1 4 g.[53262018_53262020delinsCC;53262030_53281432del] g.[53262018_53262020delinsCC;53262030_53281432del] 2017 28702169
1063 OMIA001279-9615 dog Scottish Deerhound Hypotrichosis, recessive SGK3 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 29 g.16351976_16351977insT c.137_138insT p.(E47Gfs*3) NM_001190428.1; NP_001177357.1 2019 30927068 Genomic position in CanFam3.1 provided by Mateo Etcheveste and Robert Kuhn.
564 OMIA001279-9615 dog American Hairless Hypotrichosis, recessive SGK3 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 29 g.16366702_16366705del c.287_290delTTAG p.(V96Gfs*50) 2017 27994129
577 OMIA001309-9615 dog New Zealand Huntaway Dog Mucopolysaccharidosis IIIA SGSH insertion, small (<=20) Naturally occurring variant yes CanFam3.1 9 g.1544321_1544322insA c.685_686insA p.(Y229*) NM_001003114.1; NP_001003114.1; published as c.708-709insA (which are mRNA and not cDNA coordinates) 2002 11829484
954 OMIA001309-9615 dog Dachshund Mucopolysaccharidosis IIIA SGSH deletion, small (<=20) Naturally occurring variant yes CanFam3.1 9 g.1544376_1544378delCCA c.740_742delCCA p.(T247del) NM_001003114.1; NP_001003114.1; published as c.737_739delCCA; coordinates in the table have been updated in accordance with the HGVS 3' rule 2000 10950929 Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn.
1444 OMIA000810-9615 dog Beagle Cocker Spaniel Lundehund Malinois Rottweiler Shetland Sheepdog Shih-Tzu Standard Poodle Standard Schnauzer Yorkshire Terrier Dew claws SHH DC-2 regulatory Naturally occurring variant yes CanFam3.1 16 g.19380592C>T 2008 18689889 Thank you to Heidi Anderson for suggesting to add this variant [8/4/2022]
1445 OMIA000810-9615 dog Korean Tosa Sapsaree Dew claws SHH DC-1 regulatory Naturally occurring variant yes CanFam3.1 16 g.19380829C>T 2008 18689889 Thank you to Heidi Anderson for suggesting to add this variant [8/4/2022]
1098 OMIA002208-9615 dog Golden Retriever Eye malformation, congenital SIX6 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 8 g.35566504C>T c.487C>T p.(Q163*) XM_547840.6:c.487C>T; XP_547840.3:p.(Gln163*) 2019 31207931
1218 OMIA002279-9615 dog Malinois Ataxia, spinocerebellar, SLC12A6-related SLC12A6 delins, small (<=20) Naturally occurring variant yes CanFam3.1 30 g.774122_774125delinsCATCTCACTCAT c.178_181delinsCATCTCACTCAT p.(M60Hfs*14) XM_014109414.2; XP_013964889.1; 12-bp insertion (CATCTCACTCAT) and a 4-bp deletion (ATGA) 2019 31160700
642 OMIA001400-9615 dog Miniature Poodle Osteochondrodysplasia SLC13A1 deletion, gross (>20) Naturally occurring variant yes CanFam3.1 14 g.60628774_60758561del c.99+3353_*56671del XM_005628770.1; a 129788bp deletion which "ablated all but the first exon of SLC13A1" 2012 23300579
578 OMIA001097-9615 dog Alaskan Husky Necrotising encephalopathy, subacute, of Leigh SLC19A3 delins, small (<=20) Naturally occurring variant yes CanFam3.1 25 g.40417443delinsTTGCA c.624delinsTGCAA p.(Q208Hfs*13) XM_022409850.1; XP_022265558.1; published as c.624 insTTGC, c.625 C>A; coordinates in the table have been updated to reflect HGVS nomenclature 2013 23469184 Genomic coordinates in CanFam3.1 provided by Robert Kuhn.
1250 OMIA001097-9615 dog Yorkshire Terrier Juvenile-onset necrotizing encephalopathy SLC19A3 delins, gross (>20) Naturally occurring variant yes CanFam3.1 25 g.40417857_40417862delinsN[35] c.205_210delinsN[35] p.(P69Ifs*45) XM_022409850.1; XP_022265558.1; "a 35 bp insertion replacing 6 bp and thereby disturbing the correct reading frame" (Drögemüller et al., 2020) 2020 33081289
1262 OMIA002294-9615 dog Dutch Shepherd dog Inflammatory myopathy, SLC25A12-related SLC25A12 missense Naturally occurring variant yes CanFam3.1 36 g.16219219A>G c.1046T>C p.(L349P) chr36:g.16,219,219A>G; c.1046T>C; p.L349P (Shelton et al., 2019) 2019 31594244
937 OMIA001973-9615 dog Great Dane Ichthyosis, SLC27A4-related SLC27A4 splicing Naturally occurring variant yes CanFam3.1 9 g.55168916C>T c.1250G>A XM_548438.6; XP_548438.3; cDNA sequencing confirmed that a "new acceptor site is created by the A-allele ... that results in a shorter RNA product. ... affected dogs show aberrantly spliced transcript with an in-frame loss of the first 54 bp of exon 8" (Metzger et al., 2015) 2015 26506231 Genomic position in CanFam3.1 provided by Robert Kuhn and Mateo Etcheveste.
83 OMIA001033-9615 dog Dalmatian Urolithiasis SLC2A9 missense Naturally occurring variant yes CanFam3.1 3 g.69456869G>T c.563G>T p.(C188F) NM_001130835.2; NP_001124307.2 rs1152388406 rs1152388406 2008 18989453 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1158 OMIA002244-9615 dog Basset Hound Craniomandibular osteopathy SLC37A2 splicing Naturally occurring variant yes CanFam3.1 5 g.9387071C>T c.1446+1G>A NC_006587.3:g.9387071C>T; XM_005619600.3:c.1446+1G>A (Letko et al., 2020) 2020 32033218
411 OMIA002244-9615 dog Cairn Terrier Scottish Terrier West Highland White Terrier Craniomandibular osteopathy SLC37A2 splicing Naturally occurring variant yes CanFam3.1 5 g.9387327G>A c.1332C>T XM_005619600.3:c.1332C>T (Letko et al., 2020) 2016 27187611 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
526 OMIA000256-9615 dog Labrador Cystinuria, type I - A SLC3A1 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 10 g.46700948del c.350del p.(G117Afs*41) NM_001003109.1; NP_001003109.1; published as c.350delG 2013 24001348 Genomic coordinates in CanFam3.1 provided by Robert Kuhn
268 OMIA000256-9615 dog Newfoundland Cystinuria, type I -A SLC3A1 nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 10 g.46706001C>T c.586C>T p.(R196*) 2000 11129328 Genomic coordinates obtained from EBI's Variant Effect Predictor
527 OMIA001879-9615 dog Australian Cattle Dog Cystinuria, type II - A SLC3A1 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 10 g.46725151_46725156del c.1098_1103del p.(T367_T368del) NM_001003109.1; NP_001003109.1; published as c.1095_1100delCACCAC; p.(T366_T367del); coordinates in the table have been updated to a recent reference genome and / or transcript 2013 24001348 Genomic position in CanFam3.1 provided by Robert Kuhn and Mateo Etcheveste.
795 OMIA001821-9615 dog Bull Mastiff Coat colour, albinism, oculocutaneous type IV SLC45A2 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 4 g.73864860del c.1287del p.(M430Cfs*4) NM_001037947.1; NP_001033036.1; deletion C 2017 28737247
675 OMIA001821-9615 dog Doberman Pinscher Coat colour, albinism, oculocutaneous type IV SLC45A2 deletion, gross (>20) Naturally occurring variant yes CanFam3.1 4 g.73867275_73871357del c.1442_*3934del NM_001037947.1; "a 4,081 base pair deletion resulting in loss of the terminus of exon seven of SLC45A2 (chr4[ratio]77,062,968-77,067,051)" (g.27141_31223del; CanFam2.0) 2014 24647637
92 OMIA001821-9615 dog Lhasa Apso Mixed breed Pekingese Pomeranian Coat colour, albinism, oculocutaneous type IV SLC45A2 missense Naturally occurring variant yes CanFam3.1 4 g.73867311G>A c.1478G>A p.(G493D) NM_001037947.1 2015 25790827 Genomic position in CanFam3.1 provided by Robert Kuhn
575 OMIA001572-9615 dog Golden Retriever Golden Retriever PRA 1 SLC4A3 insertion, small (<=20) Naturally occurring variant yes CanFam3.1 37 g.26145752_26145753insC c.2601_2602insC p.(E859Rfs*104) Genomic coordinates in CanFam3.1 and EVA ID provided by Robert Kuhn rs1152388421 2011 21738669 NM_001289433.1; NP_001276362.1; one of 3 transcripts; second EVA ID for this variant rs852038699 is inconsistent with HGVS 3' rule
1037 OMIA002174-9615 dog Shih-Tzu Congenital dyshormonogenic hypothyroidism with goiter SLC5A5 splicing Naturally occurring variant yes CanFam3.1 20 g.45024672C>T c.1172-1G>A XM_541946.4; published as g.45024672G>A, predicted to be a splice site mutation leading to loss of exon 10 and a frameshift 2018 29777899
638 OMIA001594-9615 dog Irish Wolfhound Hyperekplexia (Startle disease) SLC6A5 deletion, gross (>20) Naturally occurring variant yes CanFam3.1 21 g.42583699_42587925del c.-52_562+504del XM_005633757.1; "a homozygous 4.2kb [4227bp] microdeletion encompassing exons 2 and 3" 2011 21420493
1080 OMIA001594-9615 dog Spanish greyhound Hyperekplexia (Startle disease) SLC6A5 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 21 g.42612546_42612547del c.1379_1380delCT p.(S460Ffs*47) XM_022407940.1; XP_022263648.1 2019 30847549 Genomic coordinates in CanFam3.1 provided by Robert Kuhn.
85 OMIA001880-9615 dog Miniature Pinscher Cystinuria, type II - B SLC7A9 missense Naturally occurring variant yes CanFam3.1 1 g.119211938G>A c.964G>A p.(G322R) NM_001048109.1; NP_001041574.1 2013 24001348 Genomic coordinates in CanFam3.1 provided by Robert Kuhn and Zoe Shmidt.
733 OMIA001551-9615 dog Brachycephaly SMOC2 insertion, gross (>20) Naturally occurring variant yes 1 "a long interspersed nuclear element (LINE-1) within the SPARC-related modular calcium binding (SMOC2) gene" 2017 28552356
415 OMIA002034-9615 dog Vizsla Cerebellar cortical degeneration, Hungarian Vizsla SNX14 splicing Naturally occurring variant yes CanFam3.1 12 g.45530566C>T c.26531G>A 2016 27566131
36 OMIA000263-9615 dog Belgian Shepherd Boxer Chesapeake Bay Retriever German Shepherd Dog Hovawart Pembroke Welsh Corgi Rhodesian Ridgeback Degenerative myelopathy SOD1 missense Naturally occurring variant yes CanFam3.1 31 g.26540342G>A c.118G>A p.(E40K) NM_001003035.1; NP_001003035.1 2009 19188595
1302 OMIA002322-9615 dog Markiesje Paroxysmal dyskinesia, juvenile SOD1 delins, small (<=20) Naturally occurring variant yes ROS_Cfam_1.0 31 g.26654939delinsCAC c.12delinsCAC p.(K4Nfs*7) NM001003035.1; NP_001003035.1; published p.(K4Dfs*6) updated to HGVS recommendation, genomic coordinates not available for CanFam3.1 2021 33677640
87 OMIA000263-9615 dog Bernese Mountain dog Degenerative myelopathy SOD1 missense Naturally occurring variant yes ROS_Cfam_1.0 31 g.26654979A>T c.52A>T p.(T18S) NM_001003035.1; NP_001003035.1 2011 21848967
37 OMIA001318-9615 dog Mixed breed Elliptocytosis SPTB missense Naturally occurring variant yes CanFam3.1 8 g.39170437G>A c.6119C>T p.(T2020M) NM_001220481.1; NP_001207410.1; published as c.6384C>T and p.(T2110M); coordinates in the table have been updated to a recent reference genome and / or transcript 2009 19228356
457 OMIA002092-9615 dog Beagle Ataxia, spinocerebellar, SPTBN2-related SPTBN2 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 18 g.50666027_50666034del c.5855_5862del p.(I1952Rfs*28) XM_005631422.3; XP_005631479.1; published as chr18:53,691,704_53,691,711del (CanFam2); p.(G1952insRDRGQGRPLLLMHRHGAGAA); coordinates in the table have been updated to a recent reference genome and / or transcript and are updated to HGVS nomenclature 2012 22781464
700 OMIA001297-9615 dog Norwegian Elkhound Early retinal degeneration STK38L insertion, gross (>20) Naturally occurring variant yes 27 "a SINE insertion in exon 4 of the canine STK38L/NDR2 gene. The mutation removes exon 4 from STK38L transcripts" 2010 20887780
970 OMIA001373-9615 dog Greyhound Nasal parakeratosis SUV39H2 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 2 g.21731812_21731815del c.996+3_996+6del XM_005617114.3; deletion AAGT 2018 29423952
86 OMIA001373-9615 dog Labrador Retriever Nasal parakeratosis SUV39H2 missense Naturally occurring variant yes CanFam3.1 2 g.21731842A>C c.972T>G p.(N324K) XM_005617114.3; XP_005617171.1 rs851549203 rs851549203 2013 24098150
79 OMIA000975-9615 dog Pembroke Welsh Corgi Bob tail T missense Naturally occurring variant yes CanFam3.1 1 g.54192143G>C c.189C>G p.(I63M) NM_001003092.1; NP_001003332.1; ENSCAFT00845008388.1; ENSCAFP00845006600.1 rs1152388402 rs1152388402 2001 11252170 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
95 OMIA001975-9615 dog Spanish water dog Neuroaxonal dystrophy, juvenile TECPR2 missense Naturally occurring variant yes CanFam3.1 8 g.70433320C>T c.4009C>T p.(R1337W) 2015 26555167 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
706 OMIA000546-9615 dog Jack Russell Terrier Ichthyosis TGM1 insertion, gross (>20) Naturally occurring variant yes 8 a LINE-1 insertion in the TGM1 gene 2009 19438474
425 OMIA000536-9615 dog Spanish water dog Hypothyroidism TPO insertion, small (<=20) Naturally occurring variant yes CanFam3.1 17 g.773950_773951insG c.39_40insG p.(R14Efs*184) NM_001003009.2; NP_001003009.2; the variant expands a stretch of 8 consecutive guanine residues to 9 guanine residues and introduces an early frameshift 2013 23223904
273 OMIA000536-9615 dog Rat Terrier Toy Fox Terrier Hypothyroidism TPO nonsense (stop-gain) Naturally occurring variant yes CanFam3.1 17 g.784624C>T c.331C>T p.(Q111*) 2003 12564727 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
50 OMIA000536-9615 dog Tenterfield Terrier Hypothyroidism TPO missense Naturally occurring variant yes CanFam3.1 17 g.799099C>T c.1777C>T p.(R593W) NM_001003009.2 2012 23113744 Genomic coordinates in CanFam3.1 provided by Robert Kuhn
407 OMIA000536-9615 dog French Bulldog Hypothyroidism TPO splicing Naturally occurring variant yes CanFam3.1 17 g.801598T>C c.2242+2T>C 2015 26478542
473 OMIA001472-9615 dog Dachshund Neuronal ceroid lipofuscinosis, 2 TPP1 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 21 g.29925076del c.325delC p.(R108Gfs*6) NP_001013869.1; NM_001013847.1, genomic coordinates in accordance with HGVS 3' rule 2006 16621647
1130 OMIA002215-9615 dog Standard Schnauzer Leukodystrophy, TSEN54-related TSEN54 missense Naturally occurring variant yes CanFam3.1 9 g.5015506C>T c.371G>A p.(G124D) XM_540434.6; XP_540434.3 2019 31584937
949 OMIA001984-9615 dog Golden Retriever Golden Retriever PRA 2 TTC8 deletion, small (<=20) Naturally occurring variant yes CanFam3.1 8 g.60090186del c.669delA p.(K223Rfs*15) 2014 26401321
98 OMIA002434-9615 dog Cairn Terrier Norfolk Terrier Thrombocytopaenia TUBB1 missense Naturally occurring variant yes CanFam3.1 24 g.43761303G>A c.5G>A p.(R2H) XM_022408906.1; XP_022264614.1 2014 25060661 Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn.
81 OMIA002434-9615 dog King Charles Spaniel Thrombocytopaenia TUBB1 missense Naturally occurring variant yes CanFam3.1 24 g.43766144G>A c.745G>A p.(D249N) XM_022408906.1; XP_022264614.1 2008 18466252 Sequence information used to identify the genomic location was kindly provided by Mary K Boudreaux.
1247 OMIA000202-9615 dog Dachshund Himalayan TYR missense Naturally occurring variant no CanFam3.1 21 g.10893929C>T c.230G>A p.(R77Q) NM_001002941.1; NP_001002941.1 2020 33039541 Genomic coordinates in CanFam3.1 provided by Robert Kuhn
31 OMIA001249-9615 dog Brown TYRP1 b^c missense Naturally occurring variant no CanFam3.1 11 g.33317810T>A c.121T>A p.(C41S) rs851939320 rs851939320 2002 12140685 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. Correction to genomic details provided by professor Claire Wade August 2018. Correction to g and c. details provided by Professor Tosso Leeb 11 Feb 2020.
1282 OMIA001249-9615 dog Siberian Husky Brown TYRP1 b^h missense Naturally occurring variant no CanFam3.1 11 g.33317814G>A c.125G>A p.(C42Y) NM_001194966.1, c.125G>A, p.Cys42Tyr (Van Buren et al., 2021) 2021 33421162
797 OMIA001249-9615 dog Australian Shepherd Brown TYRP1 nonsense (stop-gain) Naturally occurring variant no CanFam3.1 11 g.33319349T>G c.555T>G p.(Y185*) ROS_Cfam_1.0 g.34224397T>G ENSCAFT00845015439.1:c.555T>G ENSCAFP00845011991.1:p.Tyr185Ter rs1152388483 rs1152388483 2017 28497851
267 OMIA001249-9615 dog Brown TYRP1 b^s nonsense (stop-gain) Naturally occurring variant no CanFam3.1 11 g.33326685C>T c.991C>T p.(Gln331*) rs850566878 rs850566878 2002 12140685 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1113 OMIA001249-9615 dog Lancashire heeler Liver TYRP1 b^e missense Naturally occurring variant no CanFam3.1 11 g.33326719T>G c.1025T>G p.(F342C) 2019 31468558
796 OMIA001249-9615 dog Brown TYRP1 b^d deletion, small (<=20) Naturally occurring variant no CanFam3.1 11 g.33326727_33326729del c.1033_1035del p.(P345del) rs851422848 rs851422848 2002 12140685
1157 OMIA001609-9615 dog German Shorthaired Pointer Vizsla Exfoliative cutaneous lupus erythematosus UNC93B1 missense Naturally occurring variant yes CanFam3.1 18 g.49834825C>A c.1438C>A p.(P480T) XM_540813.6:c.1438C>A; XP_540813.3:p.(Pro480Thr) (Leeb et al., 2020) 2020 32028618
1300 OMIA001216-9615 dog Australian Cattle Dog Dalmatian English Cocker Spaniel German Shorthaired Pointer Wirehaired Griffon Roan USH2A T^R duplication Naturally occurring variant no CanFam3.1 38 Brancalion et al. (2021) "identified a duplicated DNA segment (11 398 bp) lying within the 67th intron of USH2A and spanning CFA38:11131841–11143239 (canfam3.1)". Kawakami et al. (2021) identified the same duplication: "an 11-kb tandem duplication (11,131,835–11,143,237)" 2021 33539602 33755696
370 OMIA001431-9615 dog Pomeranian Vitamin D-deficiency rickets, type II VDR deletion, small (<=20) Naturally occurring variant yes CanFam3.1 27 g.6895070del c.462del p.(P155Lfs*40) XM_038438367.1; XP_038294295.1; a single G deletion at the exon 4 / intron 4 junction; splicing is not affected, but the aberrant transcript contains a frameshift and premature stop codon; coordinates have been updated to recent reference sequence and differ from the publication 2009 19909429
917 OMIA001947-9615 dog Eurasier Cerebellar hypoplasia, VLDLR-associated VLDLR deletion, small (<=20) Naturally occurring variant yes CanFam3.1 1 g.91266144del c.1713del p.(W572Gfs*10) NM_001286978.1; NP_001273907.1; published as c.1713delC 2015 25668033 Genomic position in CanFam3.1 provided by Robert Kuhn
995 OMIA002152-9615 dog Rottweiler Neuroaxonal dystrophy, VPS11-related VPS11 missense Naturally occurring variant yes CanFam3.1 5 g.14777774T>C c.2504A>G p.(H835R) XM_546492.6; XP_546492.2 rs852867622 rs852867622 2018 29945969
478 OMIA001428-9615 dog Border Collie Trapped Neutrophil Syndrome VPS13B deletion, small (<=20) Naturally occurring variant yes CanFam3.1 13 g.1412654_1412657del c.2893_2896del p.(V595Ifs) XM_539102.7; XP_539102.2; published as g.4411950_4411953del GTTT (HM036106.1). BLAST of published sequence (HM036106.1) identified genomic position in CanFam3.1 as g.1412654_1412657del 2011 21605373
479 OMIA001058-9615 dog Scottish Terrier Von Willebrand disease III VWF deletion, small (<=20) Naturally occurring variant yes CanFam3.1 27 g.38848107del c.255del p.(V86Cfs) NM_001002932.1; NP_001002932.1; "a single base deletion [C] in the codon for amino acid 85 of the prepro-vWF cDNA" 2000 10668811
968 OMIA001058-9615 dog Shetland Sheepdog Von Willebrand disease III VWF deletion, small (<=20) Naturally occurring variant yes CanFam3.1 27 g.38868884del c.738del p.(F366Lfs) NM_001002932.1; NP_001002932.1; Venta, P. J., G. J. Brewer, V. Yuzbasiyan-Gurkan, W. D. Schall, and J. Duffendeck, 1998 Inventors; The Regents of the University of Michigan, assignee. DNA encoding canine von Willebrand factor and methods of use. United States patent US6074832A. 1998 Aug 11. 1998 Reference not in PubMed; see OMIA 001058-9615 for reference details
803 OMIA001339-9615 dog Chinese Crested Dog German Shorthaired Pointer German Wirehaired Pointer Von Willebrand disease II VWF missense Naturally occurring variant yes CanFam3.1 27 g.38887211T>G c.1657T>G p.(W553G) 2017 28696025 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
371 OMIA001058-9615 dog Dutch Kooiker Von Willebrand disease III VWF splicing Naturally occurring variant yes CanFam3.1 27 g.38892182G>A c.2186+1G>A NM_001002932.1; a G>A base substitution at the first position of the donor splice site sequence of intron 16 1998 9716162
84 OMIA001339-9615 dog German Shorthaired Pointer German Wirehaired Pointer Von Willebrand disease II VWF missense Naturally occurring variant yes CanFam3.1 27 g.38924099A>G c.4937A>G p.(N1646S) rs852456570 rs852456570 2004 15133170 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
401 OMIA001057-9615 dog Barbet Bernese Mountain dog Brazilian Terrier Doberman Pinscher Dutch Shepherd dog Kromfohrländer Manchester Terrier Von Willebrand disease I VWF splicing Naturally occurring variant yes CanFam3.1 27 g.38951839G>A c.7437G>A p.(S2479S) Incomplete penetrance - some dogs with the variant do not develop clinical signs of disease 2013 23911791 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool.
1358 OMIA002445-9615 dog Mixed breed Xanthinuria, type I XDH splicing Naturally occurring variant yes CanFam3.1 17 g.24941551C>T c.654G>A p.(R189_L218del) ENSCAFT00000047701.2; Ensembl VEP reported variant as synonymous, splice region variant, cDNA sequencing revealed removal of all 93 bp of exon 8 (p.Arg189_Leu218del) . Genomic position based on supplementary table S3. (Tate et al., 2021) 2021 34584846
1172 OMIA002256-9615 dog Belgian Shepherd Cardiomyopathy and juvenile mortality YARS2 missense Naturally occurring variant yes CanFam3.1 27 g.16157324G>A c.1054G>A p.(E352K) "XM_543740.6:c.1054G>A . . . XP_543740.1:p.(Glu352Lys)" (Gurtner et al. (2020) 2020 32183361
Overall Statistics
Total number of variants 467
Variants with genomic location 425 (91.0% )
Variants in a variant database, i.e. with rs ID 54 (11.6%)
Variant Type Count Percent
complex rearrangement 3 0.6%
deletion, gross (>20) 32 6.9%
deletion, small (<=20) 90 19.3%
delins, gross (>20) 3 0.6%
delins, small (<=20) 12 2.6%
duplication 7 1.5%
extension (stop-lost) 1 0.2%
haplotype 5 1.1%
insertion, gross (>20) 38 8.1%
insertion, small (<=20) 38 8.1%
inversion 4 0.9%
missense 133 28.5%
nonsense (stop-gain) 47 10.1%
reference sequence allele 1 0.2%
regulatory 9 1.9%
repeat variation 4 0.9%
splicing 39 8.4%
start-lost 1 0.2%
Year First Reported Count Percent
1989 1 0.2%
1990 1 0.2%
1991 0 0.0%
1992 2 0.4%
1993 1 0.2%
1994 4 0.9%
1995 1 0.2%
1996 4 0.9%
1997 2 0.4%
1998 5 1.1%
1999 9 1.9%
2000 9 1.9%
2001 6 1.3%
2002 12 2.6%
2003 7 1.5%
2004 3 0.6%
2005 11 2.4%
2006 12 2.6%
2007 18 3.9%
2008 8 1.7%
2009 10 2.1%
2010 20 4.3%
2011 27 5.8%
2012 21 4.5%
2013 29 6.2%
2014 17 3.6%
2015 27 5.8%
2016 22 4.7%
2017 29 6.2%
2018 32 6.9%
2019 38 8.1%
2020 37 7.9%
2021 35 7.5%
2022 7 1.5%