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558 variant records found |
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | OMIA Phene-Species ID(s) | Species Name | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Deleterious? | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1050 | OMIA:002179-9615 | dog | Labrador Retriever (Dog) | Stargardt disease 1 | ABCA4 | insertion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 6 | g.55146556dup | c.4176dup | p.(F1393Lfs*3) | Mäkeläinen et al. (2019): "ENSCAFT00000005367 exon28 4170dupC* V1390fs" Importantly, the same authors also explain in Table S3 that "*The insertion is found in a cytosine mononucleotide-repeat region [55,146,550–55,146,556] and it is arbitrary at what position the actual insertion occurs. In the text we have denoted the insertion as c.4176insC, p.F1393Lfs*1395)." Variant information changed to reflect HGVS nomenclature | 2019 | 30889179 | |||
| 607 | OMIA:001402-9615 | dog | Border Collie (Dog) | Adverse reaction to certain drugs | ABCB1 | insertion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 14 | CanFam3.1 | published as c.73insAAT - the allele is reflected by the reference sequence CanFam3.1 and NM_001003215.2 as reference: g.13737172_13737174; c.73_75, p.N25; causality of this variant should be reviewed | 2010 | 21113104 | |||||
| 469 | OMIA:001402-9615 | dog | Australian Shepherd (Dog) Border Collie (Dog) Collie (Dog) German Shepherd Dog (Dog) Long-Haired Whippet (Dog) Miniature Australian Shepherd Dog (Dog) Old English Sheepdog (Dog) Shetland Sheepdog (Dog) Silken Windhound (Dog) Waller (Dog) White Swiss Shepherd Dog (Dog) | Adverse reaction to certain drugs | ABCB1 | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 14 | NC_006596.3:g.13726596_13726599del | NM_001003215.2:c.228_231del | NM_001003215.2:p.(D77Afs*16) | 2001 | 11692082 | Variant information initially gleaned from or confirmed by Donner et al. (2016) PLoS One 11:e0161005 and later updated to reflect HGVS nomenclature. | |||
| 442 | OMIA:001402-9615 | dog | Border Collie (Dog) | Adverse reaction to certain drugs | ABCB1 | regulatory | Naturally occurring variant | no | CanFam3.1 | 14 | NC_006596.3:g.13742402A>C | published as Canfam2 chr14:16692274T>G, c.-6-180T>G, possible regulatory variant associated with resistance to phenobarbital treatment in epileptic Border Collies; an association between the variant and the phenotype was not supported in a different study: PMID: 31685133 | rs852787132 | 2011 | 21488961 | Genomic coordinates in CanFam3.1 and EVA ID provided by Zoe Shmidt and Robert Kuhn. | |||
| 572 | OMIA:001524-9615 | dog | Shetland Sheepdog (Dog) | 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, the association between this variant and disease was later disproven and this variant should not be used as a diagnostic marker for GBM (Cullen et al. 2014) | 2010 | 20598156 | |||
| 1574 | OMIA:002710-9615 | dog | Manchester Terrier (Dog) | Cardiomyopathy, dilated, ABCC9-related | ABCC9 | SCDY/DCM | missense | Naturally occurring variant | unknown | Dog10K_Boxer_Tasha | 27 | g.21042635C>T | c.3557G>A | p.(R1186Q) | XM_022410972.2; XP_022266680.2 | 2023 | 37239348 | ||
| 1388 | OMIA:002368-9615 | dog | Golden Retriever (Dog) | Ichthyosis, ABHD5-related | ABHD5 | ICH2 | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 23 | g.2587000_2587013del | c.1006_1019del | p.(D336Sfs*6) | XM_542689.5; XP_542689.2 | 2022 | 34791225 | ||
| 1497 | OMIA:002585-9615 | dog | Cavalier King Charles Spaniel (Dog) | medium-chain acyl-CoA dehydrogenase | ACADM | delins, gross (>20) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 6 | g.71401388_71401389delinsCATAATTCTTAGACAATATTGAGAATTAAC | c.444_445delinsGTTAATTCTCAATATTGTCTAAGAATTATG | p.(T150Ifs*6) | XM_038541645.1; XP_038397573.1 | 2022 | 36292732 | |||
| 972 | OMIA:002140-9615 | dog | German Hunting Terrier (Dog) | Exercise induced metabolic myopathy | ACADVL | nonsense (stop-gain) | Naturally occurring variant | yes | CanFam3.1 | 5 | g.32193689C>A | c.1728C>A | p.(Y576*) | XM_546581.5; XP_546581.3 | 2018 | 29491033 | |||
| 1045 | OMIA:002177-9615 | dog | Akita (Dog) American Akita (Dog) | Amelogenesis imperfecta, ACP4-related | ACPT | insertion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 1 | g.106051997dupC | c.1189dupG | p.(A397Gfs) | XM_541473.2; XP_541473.2; ACPT is a synonym of ACP4 | 2019 | 30877375 | |||
| 1259 | OMIA:002226-9615 | dog | Australian Kelpie (Dog) | Intestinal lipid malabsorption | ACSL5 | deletion, gross (>20) | Naturally occurring variant | yes | CanFam3.1 | 28 | g.23380074_23483377del | NC_006610.3CFA28:g.23380074_23483377del (O/Brien et al., 2020) | 2020 | 33106515 | |||||
| 633 | OMIA:001520-9615 | dog | Glen of Imaal Terrier (Dog) | Cone-rod dystrophy 3 | ADAM9 | deletion, gross (>20) | Naturally occurring variant | yes | 16 | "a deletion of exons 15 and 16 which alters the reading frame leading to a premature stop codon" in the ADAM9 gene | 2010 | 20691256 | |||||||
| 43 | OMIA:001870-9615 | dog | Beagle (Dog) | Glaucoma, primary open angle | ADAMTS10 | missense | Naturally occurring variant | yes | CanFam3.1 | 20 | g.53096339C>T | c.1981G>A | p.(G661R) | XM_849227.3; XP_854320.1 | 2011 | 21379321 | |||
| 101 | OMIA:001870-9615 | dog | Norwegian Elkhound (Dog) | Glaucoma, primary open angle | ADAMTS10 | missense | Naturally occurring variant | yes | CanFam3.1 | 20 | 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 | OMIA:001976-9615 | dog | Basset Hound (Dog) | Glaucoma, primary open angle, ADAMTS17-related | ADAMTS17 | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 3 | g.40614853_40614872del | c.194_213del | p.(L68Gfs*) | XM_022416850.1; XP_022272558.1 | 2015 | 26474315 | |||
| 365 | OMIA:000588-9615 | dog | American Toy Terrier (Dog) Chinese Crested (Dog) German Hunting Terrier (Dog) Jack Russell Terrier (Dog) Lancashire Heeler (Dog) Miniature Bull Terrier (Dog) Parson Russell Terrier (Dog) Patterdale Terrier (Dog) Rat Terrier (Dog) Sealyham Terrier (Dog) Tenterfield Terrier (Dog) Tibetan Terrier (Dog) Toy Fox Terrier (Dog) Volpino Italiano (Dog) Welsh Terrier (Dog) Wire Fox Terrier (Dog) Yorkshire Terrier (Dog) | Lens luxation | ADAMTS17 | splicing | Naturally occurring variant | yes | CanFam3.1 | 3 | g.40782144G>A | c.1473+1G>A | XM_022416850.1; additional breeds reported by PMID:22050825 and PMID:37582787 | rs1152388408 | 2010 | 20375329 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
| 96 | OMIA:001976-9615 | dog | Basset Fauve de Bretagne (Dog) | Glaucoma, primary open angle, ADAMTS17-related | ADAMTS17 | missense | Naturally occurring variant | yes | CanFam3.1 | 3 | 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 | OMIA:001976-9615 | dog | Petit Basset Griffon Vendeen (Dog) | Glaucoma, primary open angle, ADAMTS17-related | ADAMTS17 | inversion | Naturally occurring variant | yes | CanFam3.1 | 3 | g.40812274_45768123inv | c.1721+2668_*4831255inv | XM_545825.4; Forman et al. (2015): "a 4.96 Mb inversion . . . with breakpoints in intron 12 of ADAMTS17 (chr3:40,812,274) and a downstream intergenic region (chr3:45,768,123) [Canfam3.1]… Analysis of RNAseq data revealed novel exon expression for ADAMTS17 due to cryptic splicing occurring 3’ of the exons located immediately upstream of the inversion event." | 2015 | 26683476 | ||||
| 942 | OMIA:000588-9615 OMIA:001976-9615 | dog | Chinese Shar-Pei (Dog) | Primary open-angle glaucoma (POAG), primary lens luxation (PLL), or both | ADAMTS17 | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 3 | g.40935387_40935392del | c.3069_3074del | p.(V1024_V1025del) | XM_014112382.2; XP_013967857.1; published as c.3070_3075delCGTGGT; p.(V1025_V1026del) | 2018 | 29287154 | |||
| 1513 | OMIA:000328-9615 | dog | Alapaha Blue Blood Bulldog (Dog) American Pit Bull Terrier (Dog) | Ehlers-Danlos syndrome, type VII (Dermatosparaxis) | ADAMTS2 | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 11 | g.2280117delC | c.10delC | p.(P4Rfs*175) | 2022 | 36421833 | ||||
| 1117 | OMIA:000328-9615 | dog | Doberman Pinscher (Dog) | Ehlers-Danlos syndrome, type VII (Dermatosparaxis) | ADAMTS2 | nonsense (stop-gain) | Naturally occurring variant | yes | CanFam3.1 | 11 | g.2408978C>T | c.769C>T | p.(R257*) | 2019 | 31294848 | ||||
| 1514 | OMIA:000328-9615 | dog | Catahoula Leopard Dog (Dog) | Ehlers-Danlos syndrome, type VII (Dermatosparaxis) | ADAMTS2 | missense | Genome-editing (CRISPR-Cas9) | yes | CanFam3.1 | 11 | g.2491238G>A | c.2897G>A | p.(R966H) | 2022 | 36421833 | ||||
| 537 | OMIA:001140-9615 | dog | Nova Scotia Duck Tolling Retriever (Dog) | Cleft lip with or without cleft palate | ADAMTS20 | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 27 | g.10553479_10553480del | c.1358_1359del | p.(K453Ifs*4) | XM_022410988.1; XP_022266696.1; published as c.1360_1361delAA and p.(K453Ifs*3); coordinates in the table have been updated to a recent reference genome and / or transcript and HGVS nomenclature | 2015 | 25798845 | Genomic position in CanFam3.1 provided by Mateo Etcheveste and Robert Kuhn. | ||
| 1084 | OMIA:001893-9615 | dog | Norwich Terrier (Dog) | Upper airway syndrome | ADAMTS3 | missense | Naturally occurring variant | yes | CanFam3.1 | 13 | g.61287796G>A | c.2786G>A | p.(R929H) | 2019 | 31095560 | ||||
| 60 | OMIA:001509-9615 | dog | Beagle (Dog) | 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 | OMIA:001577-9615 | dog | Curly Coated Retriever (Dog) | Glycogen storage disease IIIa | AGL | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 6 | g.50050457del | c.4223del | p.(K1408Sfs*6) | NM_001048096.1; NP_001041561.1; published as c.4223delA; genomic position adjusted to HGVS 3' rule | 2007 | 17338148 | Genomic and protein coordinates in CanFam3.1 provided by Robert Kuhn | ||
| 75 | OMIA:001672-9615 | dog | Coton de Tulear (Dog) | Primary hyperoxaluria type I (Oxalosis I) | AGXT | missense | Naturally occurring variant | yes | CanFam3.1 | 25 | g.50968854G>A | c.304G>A | p.(G102S) | XP_003639939.1:p.Gly102Ser | rs397510072 | 2012 | 22486513 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |
| 1094 | OMIA:002205-9615 | dog | Collie Rough (Dog) | Recurrent inflammatory pulmonary disease | AKNA | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 11 | g.68576241_68576244del | c.2717_2720delACAG | p.(D906Afs*173) | XM_014117950.2: c.2717_2720delACAG; XP_013973425.1:p.(Asp906Alafs*173) | 2019 | 31357536 | |||
| 1240 | OMIA:002250-9615 | dog | Saluki (Dog) | Succinic Semialdehyde Dehydrogenase Deficiency | ALDH5A1 | missense | Naturally occurring variant | yes | CanFam3.1 | 35 | 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 | OMIA:002162-9615 | dog | Karelian Bear Dog (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 | OMIA:001868-9615 | dog | Siberian Husky (Dog) | 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 | OMIA:002775-9615 | dog | Miniature Schnauzer (Dog) | 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 | OMIA:000565-9615 | dog | Giant Schnauzer (Dog) | Intestinal cobalamin malabsorption, AMN-related | AMN | deletion, gross (>20) | Naturally occurring variant | yes | CanFam3.1 | 8 | g.70807271_70807303del | c.1113_1145del | p.(G372_A382del) | NM_001002960.1; NP_001002960.1 | 2005 | 15845892 | Genomic position in CanFam3.1 provided by Robert Kuhn and Mateo Etcheveste. | ||
| 426 | OMIA:000565-9615 | dog | Australian Shepherd (Dog) | Intestinal cobalamin malabsorption, AMN-related | AMN | start-lost | Naturally occurring variant | yes | ROS_Cfam_1.0 | 8 | g.71077084G>A | c.3G>A | p.(M1?) | NM_001002960.1; NP_001002960.1 | 2005 | 15845892 | |||
| 1677 | OMIA:002838-9615 | dog | Cirneco dell'Etna (Dog) | Cirneco oculo-neurological syndrome | AMPD2 | CONS | deletion, small (<=20) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 6 | g.42698170del | c.2131del | p.(D711Mfs12*) | XM_038541065.1; XP_038396993.1; NC_049227.1 | 2024 | 38397227 | ||
| 353 | OMIA:002539-9615 | dog | Dalmatian (Dog) | Respiratory distress syndrome | ANLN | nonsense (stop-gain) | Naturally occurring variant | yes | CanFam3.1 | 14 | 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 | OMIA:001353-9615 | dog | German Shepherd Dog (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 | OMIA:000248-9615 | dog | Collie (Dog) | Neutropenia, cyclic | AP3B1 | insertion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 3 | g.28663129_28663130insA | c.2407_2408insA | p.(T803Nfs*5) | NM_001002974.2; NP_001002974.1; a single base pair (A) insertion in exon 20 of the AP3 beta gene (AP3B1) | rs1152388405 | 2003 | 12897784 | ||
| 1206 | OMIA:001916-9615 | dog | Jack Russell Terrier (Dog) | Familial Adenomatous Polyposis | APC | delins, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 3 | g.312131_312132delinsAA | c.[462_463delinsTT] | p.(K155X) | XM_014111995.2; XP_013967470.1 | 2020 | 32445578 | Reference assembly and genomic location kindly provided by Kyoko Yoshizaki, 17 Dec 2020 | ||
| 960 | OMIA:001917-9615 | dog | Leonberger (Dog) Saint Bernard (Dog) | Polyneuropathy, ARHGEF10-related | ARHGEF10 | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 16 | g.54349199_54349208del | c.1955_1958+6del | XM_005630036.3; XP_005630093.1; published as c.1955_1958+6delCACGGTGAGC - eliminating the 3'-splice junction of exon 17 and creating an alternate splice site leading to a truncated protein | 2014 | 25275565 | Genomic coordinates in CanFam3.1 provided by Robert Kuhn | |||
| 56 | OMIA:000666-9615 | dog | Miniature Schnauzer (Dog) | Mucopolysaccharidosis VI | ARSB | deletion, gross (>20) | Naturally occurring variant | yes | CanFam3.1 | 3 | g.27870127_27870182del | c.-24_32del | NM_001048133.1 | 2020 | 32985704 | g. coordinate kindly provided by Karthik Raj 29 Oct 2020 | |||
| 640 | OMIA:000666-9615 | dog | Poodle, Miniature (Dog) | Mucopolysaccharidosis VI | ARSB | deletion, gross (>20) | Naturally occurring variant | yes | CanFam3.1 | 3 | g.27870253_27870274del | c.103_124del | p.(A35Gfs*108) | NM_001048133.1; NP_001041598.1 | 2012 | 22329490 | Variant information initially provided by Karthik Raj and Urs Giger | ||
| 859 | OMIA:000666-9615 | dog | Great Dane (Dog) | Mucopolysaccharidosis VI | ARSB | nonsense (stop-gain) | Naturally occurring variant | yes | CanFam3.1 | 3 | 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 | OMIA:000666-9615 | dog | Miniature Pinscher (Dog) | 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 | OMIA:001503-9615 | dog | American Staffordshire Terrier (Dog) | 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 | OMIA:000201-9615 | dog | Dominant yellow | ASIP | DY | reference sequence allele | Naturally occurring variant | no | CanFam3.1 | 24 | CanFam3.1 | The reference sequence CanFam3.1 represents the dominant yellow phenotype. | 2021 | 34385618 | |||||
| 1386 | OMIA:000201-9615 | dog | Black saddle | ASIP | BS | delins, gross (>20) | Naturally occurring variant | no | CanFam3.1 | 24 | g.23378062_23379640delins[MT319116.1:424_663] | Likely causal regulatory promoter variant | 2021 | 34385618 | |||||
| 30 | OMIA:000201-9615 | dog | German Shepherd Dog (Dog) | Recessive black | ASIP | missense | Naturally occurring variant | no | CanFam3.1 | 24 | g.23393552C>T | c.286C>T | p.(R96C) | rs851336386 | 2004 | 15520882 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
| 1385 | OMIA:000201-9615 | dog | Black back 3 | ASIP | BB3 | haplotype | Naturally occurring variant | no | CanFam3.1 | 24 | g.[23353288_23353472del;23354716_23354751A[4];23377890_23378086del;23378320_23378343del;g.23378858_2 | Haplotype containing a likely causal regulatory promoter variant | 2021 | 34385618 | |||||
| 1380 | OMIA:000201-9615 | dog | Agouti | ASIP | AG | haplotype | Naturally occurring variant | no | CanFam3.1 | 24 | g.[23353288_23353472del;23354716_23354751A[4];23377890_23378086del;23378320_23378343del] | Haplotype containing a likely causal regulatory promoter variant | 2021 | 34385618 | |||||
| 1383 | OMIA:000201-9615 | dog | Black back 1 | ASIP | BB1 | haplotype | Naturally occurring variant | no | CanFam3.1 | 24 | g.[23353288_23353472del;23354716_23354751A[4];23378062_23378231delins[MT319115.1:424_674] | Haplotype containing a likely causal regulatory promoter variant | 2021 | 34385618 | |||||
| 1384 | OMIA:000201-9615 | dog | Black back 2 | ASIP | BB2 | haplotype | Naturally occurring variant | no | CanFam3.1 | 24 | g.[23353288_23353472del;23354716_23354751A[4];23378062_23379640delins[MT319116.1:424_663]] | Haplotype containing a likely causal regulatory promoter variant | 2021 | 34385618 | |||||
| 1381 | OMIA:000201-9615 | dog | Shaded yellow | ASIP | SY | haplotype | Naturally occurring variant | no | CanFam3.1 | 24 | g.[23353288_23353472del;23354716_23354751A[4]] | Haplotype containing a likely causal regulatory promoter variant | 2021 | 34385618 | |||||
| 111 | OMIA:002099-9615 | dog | German Shepherd Dog (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. | ||
| 1673 | OMIA:002099-9615 | dog | Pembroke Welsh Corgi (Dog) | Ichthyosis, non-epidermolytic | ASPRV1 | deletion, small (<=20) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 10 | NC_049231.1:g.69888722_69888723del | XM_038551592.1:c.594_595del | XP_038407520.1:p.(L199Rfs*342) | 2024 | 38549226 | ||||
| 65 | OMIA:001471-9615 | dog | Poodle, Standard (Dog) | 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 | OMIA:001954-9615 | dog | Lagotto Romagnolo (Dog) | 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 | OMIA:001552-9615 | dog | Australian Cattle Dog (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 | OMIA:001552-9615 | dog | Tibetan Terrier (Dog) | 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 | OMIA:002110-9615 | dog | Belgian Shepherd Dog (Dog) | Ataxia, cerebellar, ATP1B2-related | ATP1B2 | insertion, gross (>20) | Naturally occurring variant | yes | CanFam3.1 | 5 | g.32551064_32551065ins[LT796559.1:g.50_276] | c.130_131ins[LT796559.1:g.50_276] | XM_546597.5; "a 227 bp SINE insertion into exon 2 of the ATP1B2 gene" | 2017 | 28620085 | ||||
| 1192 | OMIA:002265-9615 | dog | Irish Terrier (Dog) | Darier disease | ATP2A2 | insertion, gross (>20) | Naturally occurring variant | yes | CanFam3.1 | 26 | g.8200944_8200945insN[(205)] | c.2098-3_2098-2insN[(205)] | p.(T700Vfs*6) | NM_001003214.1; NP_001003214.1; Linek et al. (2020): "a heterozygous SINE insertion [~205bp] into the ATP2A2 gene, at the end of intron 14, close to the boundary of exon 15", giving rise to NP_001003214.1:p.(Thr700Valfs*6) | 2020 | 32354065 | |||
| 1533 | OMIA:002265-9615 | dog | Shih Tzu (Dog) | Darier disease | ATP2A2 | missense | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 26 | g.8434781A>C | c.2425A>C | p.(N809H) | NM_001003214.1; NP_001003214.1 | 2023 | 36883421 | |||
| 107 | OMIA:002608-9615 | dog | Labrador Retriever (Dog) | Modifier of copper toxicosis | ATP7A | missense | Naturally occurring variant | yes | CanFam3.1 | X | g.60279238C>T | c.980C>T | p.(T327I) | rs852523339 | 2016 | 26747866 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. The phenotype was renamed from 'Menkes disease' to 'Modifier of copper toxicosis' based on feedback from Tom Nagels [10/01/2023]. | ||
| 106 | OMIA:001071-9615 | dog | Labrador Retriever (Dog) | 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; conflicting evidence in regard to causality of this variant are reported in the literature - see https://omia.org/OMIA001071/9615/ for details | rs851958524 | 2016 | 26747866 | 30 Dec 2020: correct genomic location provided by Angelica K Kallenberg | |
| 1391 | OMIA:002484-9615 | dog | Shetland Sheepdog (Dog) | Bardet-Biedl syndrome 2 | BBS2 | missense | Naturally occurring variant | yes | CanFam3.1 | 2 | g.59693737G>C | c.1222G>C | p.(A408P) | ENSCAFT00000014523.5; ENSCAFP00000013435.4 | 2021 | 34828377 | |||
| 356 | OMIA:002045-9615 | dog | Puli (Dog) | Bardet-Biedl syndrome 4 | BBS4 | nonsense (stop-gain) | Naturally occurring variant | yes | CanFam3.1 | 30 | g.36063748A>T | c.58A>T | p.(K20*) | 2017 | 28533336 | ||||
| 635 | OMIA:001592-9615 | dog | Cavalier King Charles Spaniel (Dog) | Episodic falling | BCAN | deletion, gross (>20) | Naturally occurring variant | yes | CanFam3.1 | 7 | g.41325010_41340731delinsAAGGCC | c.-13991_466+85delinsGGCCTT | XM_005622698.1; a 15.7kb deletion in the BCAN gene removing the first 3 exons | 2012 | 21821125 | ||||
| 737 | OMIA:001554-9615 | dog | Finnish Lapphund (Dog) Lapponian Herder (Dog) | Multifocal retinopathy 3 | BEST1 | cmr3 | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 18 | g.54470590del | c.1388del | p.(P463Hfs) | NM_001097545.1; NP_001091014.1; published as c.1388delC; variant initially identified in Lapponian Herder and later reported in additional breeds: PMID:27525650 | rs397509969 | 2010 | 21197113 | Variant information and allele abbreviation gleaned from or confirmed by Donner et al. (2016) PLoS One 11:e0161005 and genomic position in CanFam3.1 and EVA ID provided by Mateo Etcheveste and Robert Kuhn. |
| 59 | OMIA:001553-9615 | dog | Coton de Tulear (Dog) | Multifocal retinopathy 2 | BEST1 | cmr2 | missense | Naturally occurring variant | yes | CanFam3.1 | 18 | 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 | OMIA:001444-9615 | dog | Boerboel (Dog) Bull Mastiff (Dog) English Mastiff (Dog) Great Pyrenees (Dog) | Multifocal retinopathy 1 | BEST1 | cmr1 | nonsense (stop-gain) | Naturally occurring variant | yes | CanFam3.1 | 18 | 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 | OMIA:001660-9615 | dog | Great Dane (Dog) | 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 | OMIA:001551-9615 | dog | Brachycephaly | BMP3 | missense | Naturally occurring variant | yes | CanFam3.1 | 32 | g.5231894C>A | c.1344C>A | p.(F448L) | rs851217657 | 2012 | 22876193 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||
| 93 | OMIA:001512-9615 | 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 | OMIA:002132-9615 | dog | German Shorthaired Pointer (Dog) | Abortion (embryonic lethality), BTBD17-related | BTBD17 | insertion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 9 | g.6048201_6048202insG | c.85+206_85+207insG | ROS_Cfam_1.0:g.6720627_6720628insG ENSCAFT00845033049.1:c.85+206_85+207insG; the homozygous variant genotype is associated with embryonic lethality in German Shorthaired Pointer, but may not be causal as the variant was observed at a high frequency in both heterozygous and homozygous form across normal dogs from multiple breeds (PMID:37582787) | rs852549625 | 2017 | 29053721 | |||
| 455 | OMIA:000155-9615 | dog | Brittany Spaniel (Dog) | C3 deficiency | C3 | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 20 | g.53573746del | c.2136del | p.(F712Lfs*11) | XM_038428862.1; XP_038284790.1 "a deletion of a cytosine at position 2136 (codon 712), leading to a frameshift that generates a stop codon 11 amino acids downstream" | 1998 | 9510185 | |||
| 105 | OMIA:001820-9615 | dog | Parson Russell Terrier (Dog) | 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 | ||
| 1692 | OMIA:002854-9615 | dog | Miniature Schnauzer (Dog) | Immunodeficiency, susceptibility to Mycobacterium avium complex | CARD9 | deletion, small (<=20) | yes | CanFam3.1 | 9 | NC_006591.3:g.49115079_49115081del | XM_844178.5:c.493_495del | XP_849271.2: p.(K165del) | 2024 | 38710903 | |||||
| 1674 | OMIA:002835-9615 | dog | Cavalier King Charles Spaniel (Dog) | Immunodeficiency, CARMIL2-related | CARMIL2 | missense | Naturally occurring variant | yes | CanFam3.1 | 5 | g.81801920G>A | c.871C>T | p.(R291*) | NC_006587.3; XM_022419456.1; XP_022275164.1 | rs3330142729 | 2024 | 38535207 | ||
| 49 | OMIA:001138-9615 | dog | American Foxhound (Dog) Beagle (Dog) English Foxhound (Dog) Harrier (Dog) Poodle, Miniature (Dog) Treeing Walker Coonhound (Dog) | Hypocatalasia | CAT | missense | Naturally occurring variant | yes | CanFam3.1 | 18 | g.33397548C>T | c.979G>A | p.(A327T) | Variant initially identified in Beagle and later reported in additional breeds: PMID:29708978, PMID27525650 | 2000 | 11137458 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
| 458 | OMIA:001416-9615 | dog | Coat colour, dominant black | CBD103 | ΔG23 = K^B | deletion, small (<=20) | Naturally occurring variant | no | CanFam3.1 | 16 | g.58965449_58965451del | c.231_233del | p.(G78del) | "a 3-base pair (bp) deletion in the second exon of CBD103, the ortholog of human DEFB103, that predicts an in-frame glycine deletion (ΔG23)" | rs851502010 | 2007 | 17947548 | Genomic location provided by Professor Claire Wade August 2018. Allele designations taken from Ollivier et al. (2013) | |
| 266 | OMIA:001540-9615 | dog | Old English Sheepdog (Dog) | 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 | OMIA:001521-9615 | dog | Portuguese Water Dog (Dog) | Progressive retinal atrophy, early onset | CCDC66 | EOPRA | insertion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 20 | g.33717704_33717705insT | c.2262_c.2263insA | p.(V747Sfs*8) | 2020 | 33273526 | |||
| 574 | OMIA:001521-9615 | dog | Schapendoes (Dog) | Generalized PRA | CCDC66 | insertion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 20 | g.33745452_33745453insT | c.521_522insA | p.(N174Kfs*2) | NM_001168012.1; NP_001161484.1; genomic coordinates in accordance with HGVS 3'-rule | 2010 | 19777273 | Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn. | ||
| 1496 | OMIA:002584-9615 | dog | Beauceron (Dog) | Deafness, CDH23-related | CDH23 | missense | Naturally occurring variant | yes | CanFam3.1 | 4 | g:22340631C>T | c.700C>T | p.(P234S) | ON462053; XM_022417544.1; XP_022273252.1 | 2023 | 36308003 | The UU_Cfam_GSD_1.0 genomic variant coordinate is: g.Chr4:23074925C>T | ||
| 61 | OMIA:002072-9615 | dog | Old Danish Pointing Dog (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 | OMIA:000685-9615 | dog | Jack Russell Terrier (Dog) | Myasthenic syndrome, congenital, due to CHRNE | CHRNE | insertion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 5 | NC_006587.3:g.31705136dup | XM_014113502.2:c.729dup | XP_013968977.2:p.(G244Rfs*274) | published as c.633_634insC, previously reported in OMIA as c.636_637insC; coordinates in the table updated to NCBI trancript IDs and in accordance to HGVS rules (3'-rule and reported as duplication) [27/08/2024] | 2015 | 26429099 | |||
| 804 | OMIA:000685-9615 | dog | Heideterrier (Dog) Smooth Fox Terrier (Dog) | Myasthenic syndrome, congenital, due to CHRNE | CHRNE | duplication | Naturally occurring variant | yes | CanFam3.1 | 5 | NC_006587.3:g.31707450dup | XM_014113502.2:c.1508dup | XP_013968977.2:p.(S503Rfs*14) | published as Chr5:31,707,450_31,707,451insG, XM_014113502.1:c.1436_1437insG, XP_013968977.1:p.Ser479ArgfsTer14; in Heideterrier; information in the table updated to new transcript and in accordance with HGVS recommendations [27/08/2024]; for additional breed inforamtion see Pubmed:38853290 |
2017 | 28508416 | |||
| 1729 | OMIA:000685-9615 | dog | English Springer Spaniel (Dog) | Myasthenic syndrome, congenital, CHRNE-related | CHRNE | missense | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 5 | NC_049226.1:chr5:31915101C>A | XM_038536566.1:c.1509C>A | XP_038392494.1:p.(S503R) | reported in two affected dogs | 2024 | 38853290 | |||
| 609 | OMIA:000698-9615 | dog | Australian Cattle Dog (Dog) Border Collie (Dog) | Myotonia | CLCN1 | insertion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 16 | NC_006598.3:g.6344748_6344749insT | NM_001003124.2:c.2647_2648insA | NP_001003124.1:p.(R883Qfs*18) | published as c.2665insA; p.(R889fs); coordinates in the table have been updated to a recent reference genome and / or transcript | 2007 | 17552451 | |||
| 1041 | OMIA:000698-9615 | dog | Labrador Retriever (Dog) | Myotonia | CLCN1 | nonsense (stop-gain) | Naturally occurring variant | yes | CanFam3.1 | 16 | NC_006598.3:g.6348929T>A | NM_001003124.2:c.2275A>T | NP_001003124.1:p.(R759X) | published as "Chr16:6348929 T A CLCN1 ENSCAFG00000003619.3 stopgain" |
2018 | 29934119 | |||
| 62 | OMIA:000698-9615 | dog | Miniature Schnauzer (Dog) | Myotonia | CLCN1 | missense | Naturally occurring variant | yes | CanFam3.1 | 16 | NC_006598.3:g.6366383G>A | NM_001003124.2:c.803C>T | NP_001003124.1:p.(T268M) | 1999 | 10452529 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||
| 1364 | OMIA:000698-9615 | dog | American Bulldog (Dog) | Myotonia | CLCN1 | insertion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 16 | NC_006598.3:g.6369245_6369246insAGAG | NM_001003124.2:c.436_437insCTCT | NP_001003124.1:p.(Y146Sfs*49) | 2020 | 33246886 | ||||
| 1570 | OMIA:000698-9615 | dog | Mixed Breed (Dog) | Myotonia | CLCN1 | deletion, gross (>20) | Naturally occurring variant | yes | CanFam3.1 | 16 | NC_006598.3:g.[6367458_6367478del;6367482del;6367485A>C] | NM_001003124.2:c.[703T>G;706del;710_730del] | NP_001003124.1:p.[(F235V;V236fs)] | published as c.[705T>G; 708del; 712_732del], coordinates in the table have been updated to the CanFam3.1 reference genome and reflect correction in PMID:37212506. |
2023 | 37212506 | |||
| 1678 | OMIA:000698-9615 | dog | French Bulldog (Dog) | Myotonia | CLCN1 | duplication | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 16 | NC_049237.1:g.6074128_6074135dup | NM_001003124.2:c.2423_2430dup | NP_001003124.1:p.(F811Lfs*39) | 2024 | 38473107 | ||||
| 279 | OMIA:001482-9615 | dog | Australian Cattle Dog (Dog) Border Collie (Dog) | Neuronal ceroid lipofuscinosis, 5 | CLN5 | nonsense (stop-gain) | Naturally occurring variant | yes | CanFam3.1 | 22 | g.30574637C>T | c.619C>T | p.(Q207*) | rs1152388418 | 2005 | 16033706 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool 30 Dec 2020: g. coordinate corrected, with thanks to Angelica K Kallenberg | ||
| 541 | OMIA:001482-9615 | dog | Golden Retriever (Dog) | Neuronal ceroid lipofuscinosis, 5 | CLN5 | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 22 | g.30574953_30574954del | c.935_936del | p.(E312Vfs*6) | NM_001011556.1; NP_001011556.1,published as CLN5:c.934_935delAG; coordinates in the table have been updated to a recent reference genome and / or transcript | 2015 | 25934231 | Breed information obtained from Katz et al. (2017) Neurobiol Dis. doi: 10.1016/j.nbd.2017.08.017; Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn. | ||
| 68 | OMIA:001443-9615 | dog | Australian Shepherd (Dog) | Neuronal ceroid lipofuscinosis, 6 | CLN6 | missense | Naturally occurring variant | yes | CanFam3.1 | 30 | NC_006612.3:g.32247875A>G | NM_001011888.1:c.829T>C | NP_001011888.1:p.(W277R) | alternative coordinates: ROS_Cfam_1.0:g.32443458A>G ENSCAFT00845033654.1:c.829T>C ENSCAFP00845026347.1:p.Trp277Arg | rs1152388420 | 2011 | 21234413 | ||
| 1703 | OMIA:001443-9615 | dog | Mixed Breed (Dog) | Neuronal ceroid lipofuscinosis, 6 | CLN6 | splicing | Naturally occurring variant | yes | Dog10K_Boxer_Tasha | 30 | NC_006612.4:g.32185406C>T | 2024 | 38927597 | ||||||
| 1702 | OMIA:001443-9615 | dog | Schapendoes (Dog) | Neuronal ceroid lipofuscinosis, 6 | CLN6 | missense | Naturally occurring variant | unknown | UU_Cfam_GSD_1.0 | 30 | NC_049251.1:g.32682554A>G | XM_038580811.1:c.386T>C | XP_038436739.1:p.(L129P) | 2024 | 38866396 | ||||
| 690 | OMIA:001506-9615 | dog | Alpine Dachsbracke (Dog) | Neuronal ceroid lipofuscinosis, 8 | CLN8 | deletion, gross (>20) | Naturally occurring variant | yes | CanFam3.1 | 37 | g.30852988_30902901del | c.-14679_*18669del | NM_001012343.1; a homozygous deletion encompassing the entire CLN8 gene | 2017 | 28024876 | g. information obtained from Katz et al. (2017) Neurobiol Dis. doi: 10.1016/j.nbd.2017.08.017 | |||
| 971 | OMIA:001506-9615 | dog | Saluki (Dog) | Neuronal ceroid lipofuscinosis, 8 | CLN8 | insertion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 37 | g.30874636dupT | c.349dupT | p.(E117*) | "an insertion of 1 bp (T) in the CLN8 gene (Fig. S2) in a short T repeat, thereby changing the stretch of 9 T's to a stretch consisting of 10 T's. The exact position of the inserted base could obviously not be verified, given that this was an insertion of a single base in a stretch of nine repeats of the same base (CFA37:g.30874628–30874636). According to the recommended nomenclature, the T insertion was noted as a T duplication in the T farthest in the 3′ direction (g.30874636dupT; c.349dupT)" | 2018 | 29446145 | |||
| 69 | OMIA:001506-9615 | dog | English Setter (Dog) | Neuronal ceroid lipofuscinosis, 8 | CLN8 | missense | Naturally occurring variant | yes | CanFam3.1 | 37 | 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 | OMIA:001506-9615 | dog | Australian Shepherd (Dog) German Shorthaired Pointer (Dog) | Neuronal ceroid lipofuscinosis, 8 | CLN8 | nonsense (stop-gain) | Naturally occurring variant | yes | CanFam3.1 | 37 | 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 | OMIA:001977-9615 | dog | Shetland Sheepdog (Dog) | Progressive retinal atrophy, due to CNGA1 mutations | CNGA1 | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 13 | g.43831897_43831900del | c.1752_1755del | p.(T585Sfs*7) | NM_001003222.1; published as c.1752_1755delAACT | 2015 | 26202106 | Genomic and protein coordinates in CanFam3.1 provided by Robert Kuhn | ||
| 548 | OMIA:001481-9615 | dog | Labrador Retriever (Dog) | Achromatopsia-2 | CNGA3 | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 10 | g.44234198_44234200del | c.1931_1933del | p.(V644del) | NM_001301112.1; published as c.1931_1933delTGG | rs852784090 | 2015 | 26407004 | Genomic coordinates in CanFam3.1 and EVA ID provided by Robert Kuhn | |
| 97 | OMIA:001481-9615 | dog | German Shepherd Dog (Dog) | Achromatopsia-2 | CNGA3 | missense | Naturally occurring variant | yes | CanFam3.1 | 10 | 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 | OMIA:002723-9615 | dog | Papillon (Dog) Phalène (Dog) | Progressive retinal atrophy | CNGB1 | delins, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 2 | g.58622673_58622675delinsCTAGCTAC | c.2387_2389delinsCTAGCTAC | p.(Y796Sfs*7) | NM_001284462.1; NP_001271391.1; published as c.2685delA2687_2688insTAGCTA and p.(Y889Sfs*5); coordinates in the table have been updated to a recent reference genome and / or transcript and updated to HGVS recommendations | rs1152388403 | 2013 | 24015210 | ||
| 631 | OMIA:001365-9615 | dog | Alaskan Malamute (Dog) Miniature Australian Shepherd Dog (Dog) | Achromatopsia (cone degeneration, hemeralopia), AMAL | CNGB3 | cd^AMAL | deletion, gross (>20) | Naturally occurring variant | yes | 29 | "deletion removing all exons of canine CNGB3" | 2002 | 12140185 | ||||||
| 27 | OMIA:001365-9615 | dog | German Shorthaired Pointer (Dog) | Achromatopsia (cone degeneration, hemeralopia), GSPT | CNGB3 | cd^GSPT | missense | Naturally occurring variant | yes | CanFam3.1 | 29 | 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 | ||
| 1502 | OMIA:002591-9615 | dog | Dalmatian (Dog) | Lysosomal storage disease, CNP-related | CNP | deletion, small (<=20) | Naturally occurring variant | yes | Dog10K_Boxer_Tasha | 9 | g.20350240del | c.1107del | p.(K370Nfs*11) | ENSCAFT00000102206 | 2022 | 35447247 | |||
| 1680 | OMIA:002591-9615 | dog | Weimaraner (Dog) | Lysosomal storage disease, CNP-related | CNP | missense | Naturally occurring variant | yes | Dog10K_Boxer_Tasha | 9 | g.20355460G>A | c.125C>T | p.(T42M) | XM_844467.6; XP_849560.2; NC_006591.4 | 2024 | 38397235 | |||
| 1273 | OMIA:002301-9615 | dog | Labrador Retriever (Dog) Leonberger (Dog) Pyrenean Shepherd (Dog) Saint Bernard (Dog) | Laryngeal paralysis and polyneuropathy | CNTNAP1 | LPPN3 | missense | Naturally occurring variant | yes | CanFam3.1 | 9 | g.20298261C>T | c.2810G>A | p.(G937E) | XM_548083.6:c.2810G>A; XP_548083.3:p.Gly937Glu; variant initially identified in Labrador Retriever, Leonberger and Saint Bernard and later reported in a Pyrenean Shepherd (PMID: 37582787) | rs24587752 | 2020 | 33261176 | |
| 1657 | OMIA:002811-9615 | dog | Old English Sheepdog (Dog) | Multiocular defect | COL11A1 | missense | Naturally occurring variant | yes | CanFam3.1 | 6 | g.47611886T>C | c.1775T>C | p.(F1592S) | 2023 | 38153936 | ||||
| 78 | OMIA:001772-9615 | dog | Labrador Retriever (Dog) | Skeletal dysplasia 2 (SD2) | COL11A2 | missense | Naturally occurring variant | yes | CanFam3.1 | 12 | 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 | 2013 | 23527306 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |
| 959 | OMIA:002126-9615 | dog | Golden Retriever (Dog) | 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 | OMIA:002112-9615 | dog | Beagle (Dog) | Osteogenesis imperfecta, COL1A2-related | COL1A2 | delins, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 14 | g.(19918265_19918268delinsTGTCATTGG) | c.3656_3859delinsTGTCATTGG | p.(L1286Cfs*31) | NM_001003187.1; NP_001003187.1; "a mutation in which nucleotides 3991-3994 ("CTAG") were replaced with "TGTCATTGG." The first seven bases of the inserted sequence were identical to nucleotides 4002-4008 of the normal canine COL1A2 sequence. The resulting frameshift changed 30 amino acids and introduced a premature stop codon." The genomic information is presented in brackets as the variant was detected in cDNA and the genomic position is predicted. Coordinates in the table have been updated to a recent reference genome and or transcripts. | 2001 | 11393792 | |||
| 1114 | OMIA:002112-9615 | dog | Lagotto Romagnolo (Dog) | Osteogenesis imperfecta, COL1A2-related | COL1A2 | duplication | Naturally occurring variant | yes | CanFam3.1 | 14 | g.19898279_19898281dup | c.877_879dup | p.(P293dup) | NM_001003187.1; NP_001003187.1 | 2019 | 31468557 | |||
| 852 | OMIA:002112-9615 | dog | Chow Chow (Dog) | Osteogenesis imperfecta, COL1A2-related | COL1A2 | splicing | Naturally occurring variant | yes | CanFam3.1 | 14 | g.19898487G>A | c.936+1G>A | 2018 | 29036614 | |||||
| 278 | OMIA:002618-9615 | dog | English Springer Spaniel (Dog) | 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 | OMIA:002618-9615 | dog | English Cocker Spaniel (Dog) | 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 | OMIA:001112-9615 | dog | Navasota (mixed breed) (Dog) | Nephritis, X-linked | COL4A5 | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | X | g.82134508_82134517del | c.513_522del | p.(N172Ifs) | XM_005640969.3; XP_005641026.1; a 10 base pair (TAATCCAGGA) deletion in exon 9 of COL4A5 | 2003 | 12879362 | |||
| 276 | OMIA:001112-9615 | dog | Samoyed (Dog) | Nephritis, X-linked | COL4A5 | nonsense (stop-gain) | Naturally occurring variant | yes | CanFam3.1 | X | 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 | OMIA:002165-9615 | dog | Labrador Retriever (Dog) | 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 | OMIA:002165-9615 | dog | Mixed Breed (Dog) | 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 | |||
| 1722 | OMIA:002165-9615 | dog | Golden Retriever (Dog) | Ehlers-Danlos syndrome, classic type 1 | COL5A1 | nonsense (stop-gain) | Naturally occurring variant | yes | Dog10K_Boxer_Tasha | 9 | NC_006591.4:g.50091843C>T | XM_038615652.1:c.2512C>T | XP_038471580.1:p.(R838*) | ENSCAFT00000031582.6:c.2500C>T, p.(Arg834Ter) | 2024 | 39175162 | |||
| 1719 | OMIA:002165-9615 | dog | Mixed Breed (Dog) | Ehlers-Danlos syndrome, classic type 1 | COL5A1 | deletion, small (<=20) | Naturally occurring variant | yes | Dog10K_Boxer_Tasha | 9 | NC_006591.4:g.50109824del | XM_038615652.1:c.3371del | XP_038471580.1:p.(E1124Lfs*364) | ENSCAFT00000031582.6:c.3360del, p.(E1121Lfs*364) | 2024 | 39175162 | |||
| 1721 | OMIA:002165-9615 | dog | Dachshund, Miniature (Dog) | Ehlers-Danlos syndrome, classic type 1 | COL5A1 | duplication | Naturally occurring variant | yes | Dog10K_Boxer_Tasha | 9 | NC_006591.4:g.50111993dup | XM_038615652.1:c.3675dup | XP_038471580.1:p.(G1226Rfs*62) | Published as g.50111986insC, ENSCAFT00000031582.6:c.3663_3664insC, p.(Gly1222Argfs*62). Coordinates in this table have been adjusted in accordance with the HGVS recommendations. | 2024 | 39175162 | |||
| 1720 | OMIA:002165-9615 | dog | Scottish Terrier (Dog) | Ehlers-Danlos syndrome, classic type 1 | COL5A1 | deletion, small (<=20) | Naturally occurring variant | yes | Dog10K_Boxer_Tasha | 9 | NC_006591.4:g.50114284del | XM_038615652.1:c.3908del | XP_038471580.1:(P1303Rfs*186) | Published as g.50114279delC; ENSCAFT00000031582.6:c.3891del; p.(P1299Rfs*186). Coordinates in this table have been adjusted in accordance with the HGVS 3'rule. | 2024 | 39175162 | |||
| 1724 | OMIA:002165-9615 | dog | German Shepherd Dog (Dog) | Ehlers-Danlos syndrome, classic type 1 | COL5A1 | missense | Naturally occurring variant | yes | Dog10K_Boxer_Tasha | 9 | NC_006591.4:g.50116228G>A | XM_038615652.1:c.4117G>A | XP_038471580.1:p.(G1373R) | ENSCAFT00000031582.6:c.4105G>A, p.(Gly1369Arg) | 2024 | 39175162 | |||
| 1723 | OMIA:002165-9615 | dog | Beagle (Dog) | Ehlers-Danlos syndrome, classic type 1 | COL5A1 | deletion, small (<=20) | Naturally occurring variant | yes | Dog10K_Boxer_Tasha | 9 | NC_006591.4:g.50131170_50131172del | XM_038615652.1:c.5320_5322del | XP_038471580.1:p.G1774del | Published as chr9:50131166delGAG, ENSCAFT00000031582.6:c.5296_5298del, p.(Glu1766del). Coordinates in this table have been adjusted in accordance with the HGVS 3'rule. |
2024 | 39175162 | |||
| 1460 | OMIA:002295-9615 | dog | Chihuahua (Dog) | Ehlers-Danlos syndrome, classic type, 2 | COL5A2 | deletion, gross (>20) | Naturally occurring variant | yes | CanFam3.1 | 36 | g.30548697_30548723del | c.3388_3414del | p.(Lys1130_Asp1138del) | XM_005640393.3; XP_005640450.1 | 2022 | 35627319 | |||
| 340 | OMIA:001967-9615 | dog | Landseer (Dog) | Muscular dystrophy, Ullrich type | COL6A1 | nonsense (stop-gain) | Naturally occurring variant | yes | CanFam3.1 | 31 | 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 | |||
| 1625 | OMIA:002274-9615 | dog | American Staffordshire Terrier (Dog) | Muscular dystrophy, COL6A3-related | COL6A3 | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 25 | g.48005972del | c.6398del | p.(P2133Rfs*109) | NM_001103215.1; NP_001096685.1; published as g.48287602CG>C in CanFam4 | 2023 | 37706358 | |||
| 1208 | OMIA:002274-9615 | dog | Labrador Retriever (Dog) | Muscular dystrophy, COL6A3-related | COL6A3 | splicing | Naturally occurring variant | yes | CanFam3.1 | 25 | g.48007994C>T | c.6210+1G>A | NM_001103215.1; CanFam3.1 chr25:48,007,994C > T; NM_001103215.1 c.6210 + 1G > A (Bolduc et al., 2020) | 2020 | 32439203 | ||||
| 1207 | OMIA:002274-9615 | dog | Labrador Retriever (Dog) | Muscular dystrophy, COL6A3-related | COL6A3 | nonsense (stop-gain) | Naturally occurring variant | yes | CanFam3.1 | 25 | g.48014962G>A | c.4726C>T | p.(R1576*) | NM_001103215.1; NP_001096685.1; CanFam3.1 chr25:48,014,962G > A; NM_001103215.1 c.4726C > T, p.R1576* (Bolduc et al., 2020) | 2020 | 32439203 | |||
| 357 | OMIA:000341-9615 | dog | Central Asian Shepherd Dog (Dog) | 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 | OMIA:000341-9615 | dog | Golden Retriever (Dog) | Epidermolysis bullosa, dystrophic | COL7A1 | missense | Naturally occurring variant | yes | CanFam3.1 | 20 | g.40538034G>A | c.5716G>A | p.(G1906S) | rs1152388417 | 2003 | 12874109 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
| 1276 | OMIA:000341-9615 | dog | Basset Hound (Dog) | Epidermolysis bullosa, dystrophic | COL7A1 | complex rearrangement | Naturally occurring variant | yes | CanFam3.1 | 20 | g.[40524302_40524308del;40524267_40524380dup] | c.[2028_2034del;1993_2050+56dup] | p.(V677Sfs*11) | NM_001002980.1; NP_001002980.1; complex duplication event spanning parts of exon 15 and intron 15 of the COL7A1 gene, starting at position 40,524,267 and ending at 40,524,380 on chromosome 20 (CanFam3.1 assembly) (Garcia et al., 2020). | 2020 | 33291836 | |||
| 641 | OMIA:001523-9615 | dog | Samoyed (Dog) | Oculoskeletal dysplasia 2 | COL9A2 | deletion, gross (>20) | Naturally occurring variant | yes | 15 | a 1,267 bp deletion that eliminates part of the 5’UTR, all of exon 1 and part of intron 1 | 2010 | 20686772 | |||||||
| 581 | OMIA:001522-9615 | dog | Labrador Retriever (Dog) | Oculoskeletal dysplasia 1 | COL9A3 | insertion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 24 | g.46653422_46653423insG | c.10_11insG | p.(A4Gfs*46) | NM_001197171.1; NP_001184100.1; published as "a 1-base insertion (guanine) in exon 1 that changes a string of four guanines (CFA24: 49,699,847–49,699,850; CanFam2) to a string of five guanines (c.7–10insG). ... (p.A4GX46)" Goldstein et al. (2010). Information in this table has been changed in accordance to HGVS 3'rule and updated to the current reference genome. | 2010 | 20686772 | |||
| 1092 | OMIA:001522-9615 | dog | Northern Inuit Dog (Dog) | Oculoskeletal dysplasia 1 | COL9A3 | nonsense (stop-gain) | Naturally occurring variant | yes | CanFam3.1 | 24 | g.46660067C>T | c.700C>T | p.(R234*) | 2019 | 31415586 | ||||
| 643 | OMIA:001988-9615 | dog | Bedlington Terrier (Dog) | Wilson disease, COMMD1 type | COMMD1 | deletion, gross (>20) | Naturally occurring variant | yes | 10 | deletion "breakpoints were positioned at 65.3091 and 65.3489 Mb of dog chromosome 10, in intron 1 and intron 2 of COMMD1 respectively, a deletion of 39.7 kb" | 2005 | 16293123 | |||||||
| 66 | OMIA:001505-9615 | dog | American Bulldog (Dog) | 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 | OMIA:001786-9615 | dog | Beagle (Dog) | 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 | 2014 | 24164695 | ||
| 447 | OMIA:001786-9615 | dog | Border Collie (Dog) | Intestinal cobalamin malabsorption due to CUBN mutation | CUBN | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 2 | g.19974334del | c.8392del | p.(Q2798Rfs*3) | NM_001003148.1; NP_001003148.1; deletion C | 2013 | 23613799 | |||
| 1036 | OMIA:001786-9615 | dog | Komondor (Dog) | Intestinal cobalamin malabsorption, CUBN-related | CUBN | splicing | Naturally occurring variant | yes | CanFam3.1 | 2 | g.19981457G>A | c.8746+1G>A | NM_001003148.1 | 2018 | 30591068 | ||||
| 850 | OMIA:002131-9615 | dog | Mixed Breed (Dog) | Methaemoglobinaemia, CYB5R3-related | CYB5R3 | missense | Naturally occurring variant | yes | CanFam3.1 | 10 | g.22832962G>A | c.227G>A | p.(G72S) | NM_001048084.1; NP_001041549.1; published as g.22832963G>A, c.214G>A - coordinates updated based on Table 1, Jaffey et al. (2020), reported in a single dog | 2017 | 28963729 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
| 967 | OMIA:002131-9615 | dog | Chihuahua (Dog) Mixed Breed (Dog) Pomeranian (Dog) Rat Terrier (Dog) | Methaemoglobinaemia, CYB5R3-related | CYB5R3 | missense | Naturally occurring variant | yes | CanFam3.1 | 10 | 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. | ||
| 1700 | OMIA:002131-9615 | dog | Mixed Breed (Dog) | Methaemoglobinaemia, CYB5R3-related | CYB5R3 | missense | Naturally occurring variant | yes | CanFam3.1 | 10 | NC_006592.3:22836975A>G | NM_001048084.1:c.604A>C | NP_001041549.1:p.(T202A) | reported in a single dog | 2020 | 33293645 | |||
| 1699 | OMIA:002131-9615 | dog | American Pit Bull Terrier (Dog) Mixed Breed (Dog) | Methaemoglobinaemia, CYB5R3-related | CYB5R3 | missense | Naturally occurring variant | yes | CanFam3.1 | 10 | NC_006592.3:22841895G>C | NM_001048084.1:c.656G>C | NP_001041549.1:p.(R219P) | 2020 | 33293645 | ||||
| 274 | OMIA:001405-9615 | dog | Beagle (Dog) | 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 | 2004 | 15564884 | Variant coordinates obtained from or confirmed by EBI's Variant Effect Predictor (VEP) tool | ||
| 1576 | OMIA:000837-9615 | dog | Pug (Dog) | Vitamin D-deficiency rickets, type IA | CYP27B1 | nonsense (stop-gain) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 10 | g.2182971G>T | c.261C>A | p.(Y87*) | XM_038549826.1; XP_038405754.1 | 2023 | 37293695 | |||
| 52 | OMIA:002684-9615 | dog | Australian Cattle Dog (Dog) Shetland Sheepdog (Dog) | Leucodystrophy | CYTB | missense | Naturally occurring variant | yes | CanFam3.1 | M | m.14474G>A | c.14474G>A | p.(V98M) | 2006 | 16026996 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||
| 565 | OMIA:002095-9615 | dog | Rhodesian Ridgeback (Dog) | Epilepsy, generalized myoclonic, with photosensitivity | DIRAS1 | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 20 | g.56474668_56474671del | c.564_567del | p.(D189Afs*11) | XM_005633100.3; XP_005633157.1; published as DIRAS1:c.564_567delAGAC | 2017 | 28223533 | Genomic and protein coordinates in CanFam3.1 provided by Robert Kuhn | ||
| 728 | OMIA:001919-9615 | dog | Nova Scotia Duck Tolling Retriever (Dog) | Cleft palate 1 | DLX6 | insertion, gross (>20) | Naturally occurring variant | yes | CanFam3.1 | 14 | g.22068082_22068083insN[2056] | "2056 bp insertion [including LINE1] . . within a highly conserved region of DLX6 intron 2 at cfa14.25016716"[CanFam2.0] | 2014 | 24699068 | |||||
| 680 | OMIA:001081-9615 | dog | German Shorthaired Pointer (Dog) | Muscular dystrophy, Duchenne type | DMD | deletion, gross (>20) | Naturally occurring variant | yes | X | a "deletion encompassing the entire dystrophin [DMD] gene" | 1999 | 10407848 | |||||||
| 681 | OMIA:001081-9615 | dog | Tibetan Terrier (Dog) | Muscular dystrophy, Duchenne type | DMD | deletion, gross (>20) | Naturally occurring variant | yes | X | "a large deletion of exons 8-29" | 2012 | 22218699 | |||||||
| 729 | OMIA:001081-9615 | dog | Labrador Retriever (Dog) | Muscular dystrophy, Duchenne type | DMD | insertion, gross (>20) | Naturally occurring variant | yes | X | "184 nucleotide [pseudoexon] insertion between exon 19 and exon 20, which results in a premature stop codon at the next codon downstream of the insertion" | 2012 | 22218699 Reference not in PubMed; see OMIA 001081-9615 for reference details | |||||||
| 957 | OMIA:001081-9615 | dog | Rottweiler (Dog) | Muscular dystrophy, Duchenne type | DMD | nonsense (stop-gain) | Naturally occurring variant | yes | X | "nonsense mutation in exon 58" | 1994 | Reference not in PubMed; see OMIA 001081-9615 for reference details | |||||||
| 989 | OMIA:001081-9615 | dog | Poodle, Miniature (Dog) | Muscular dystrophy, Duchenne type | DMD | deletion, gross (>20) | Naturally occurring variant | yes | X | "a >5 Mb deletion on the X chromosome, encompassing the entire DMD gene" | 2018 | 29474464 | |||||||
| 536 | OMIA:001081-9615 | dog | Cocker Spaniel (Dog) | Muscular dystrophy, Duchenne type | DMD | deletion, small (<=20) | Naturally occurring variant | yes | X | deletion of four nucleotides in exon 65, with a reading frame shift predicting a premature stop codon at the site of the deletion | 2012 | 22218699 | |||||||
| 367 | OMIA:001081-9615 | dog | Cavalier King Charles Spaniel (Dog) | 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 | OMIA:001081-9615 | dog | Cavalier King Charles Spaniel (Dog) | Muscular dystrophy, Duchenne type | DMD | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | X | g.27442996_27443002del | c.6057_6063del | p.(N2021Pfs) | NM_001003343.1; NP_001003343.1; published as c.6051_6057delTCTCAAT based on different transcript | 2016 | 28028563 | |||
| 542 | OMIA:001081-9615 | dog | Norfolk Terrier (Dog) | Muscular dystrophy, Duchenne type | DMD | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | X | g.27606021del | c.3084delG | p.(G1029Nfs*30) | 2015 | 26401335 | ||||
| 1249 | OMIA:001081-9615 | dog | Jack Russell Terrier (Dog) | Duchenne-type muscular dystrophy | DMD | deletion, gross (>20) | Naturally occurring variant | yes | CanFam3.1 | X | g.27615280_27982912del | c.94-10346_2807-6207del | XM_005641029.1 | 2020 | 33049940 | ||||
| 1236 | OMIA:001081-9615 | dog | Australian Labradoodle (Dog) | 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 | OMIA:001081-9615 | dog | Labrador Retriever (Dog) | Labrador Retriever muscular dystrophy (LRMD) | DMD | inversion | Naturally occurring variant | yes | CanFam3.1 | X | g.27622834_29823788inv | c.-1490357_2626-947inv | XM_005641029.1 | 2020 | 32767978 | ||||
| 1235 | OMIA:001081-9615 | dog | Border Collie (Dog) | Muscular dystrophy, Duchenne | DMD | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | X | g.27626466del | c.2841delT | 2018 | 29843823 | |||||
| 750 | OMIA:001081-9615 | dog | Japanese Spitz (Dog) | Muscular dystrophy, Duchenne type | DMD | inversion | Naturally occurring variant | yes | CanFam3.1 | X | g.27631972_33069482inv | c.-4736051_2384-5339inv | XM_005641029.1; "an inversion of a 5.4-Mb fragment of the X chromosome, with one break point (BP1) in the DMD gene . . . and a second break point (BP2) in a gene farther toward the centromere, the RPGR gene". | 2015 | 25644216 | ||||
| 708 | OMIA:001081-9615 | dog | Pembroke Welsh Corgi (Dog) | Muscular dystrophy, Duchenne type | DMD | insertion, gross (>20) | Naturally occurring variant | yes | CanFam3.1 | X | g.27721607_27721608insN[(4800)] | "a long interspersed repetitive element-1 (LINE-1) insertion in intron 13, which introduced a new exon containing an in-frame stop codon" | 2011 | 20714321 | |||||
| 1492 | OMIA:001081-9615 | dog | Labrador Retriever (Dog) | Muscular dystrophy, Duchenne type | DMD | duplication | Naturally occurring variant | yes | CanFam3.1 | X | g.27851768_28247504dup | Shelton et al. (2022): "chrX:27,851,768-27,852,122 bp position (Intron 7 . . .) and chrX:28,247,150-28,247,504 bp position (Intron 1 . . .)" | 2022 | 36041985 | |||||
| 366 | OMIA:001081-9615 | dog | Golden Retriever (Dog) | 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 | |||
| 1714 | OMIA:001081-9615 | dog | Border Collie (Dog) | Muscular dystrophy, X-linked | DMD | insertion, gross (>20) | Naturally occurring variant | unknown | ROS_Cfam_1.0 | X | NC_051843.1:g.26431863_26431864insN[162] | NM_001003343.1:c.9271_9272insN[162] | NP_001003343.1:p.(Ala3091fs*21) | likely de-novo variant present in a single affected dog | 2024 | 39152696 | |||
| 1615 | OMIA:001081-9615 | dog | Brittany Spaniel (Dog) | Muscular dystrophy, Duchenne | DMD | insertion, gross (>20) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | X | RSPYR1 retrogene insertion in intron 20; reported in a single dog; reported in a single dog | 2023 | 37628610 | ||||||
| 1614 | OMIA:001081-9615 | dog | Brittany Spaniel (Dog) | Muscular dystrophy, Duchenne | DMD | nonsense (stop-gain) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | X | g.26939052G>A | c.8059C>T | p.(Q2687*) | NM_001003343.1; NP_001003343.1; reported in 2 related dogs | 2023 | 37628610 | |||
| 1616 | OMIA:001081-9615 | dog | French Bulldog (Dog) | Muscular dystrophy, Duchenne | DMD | insertion, small (<=20) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | X | g.27774668_27774669insT | c.3371_3372insA | p.(F1125fs) | NM_001003343.1; NP_001003343.1; published as p.(F1125*), reported in a single dog | 2023 | 37628610 | |||
| 1744 | OMIA:001081-9615 | dog | Entlebucher Mountain Dog (Dog) | Muscular dystrophy, Duchenne type | DMD | duplication | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | X | NC_049260.1:g.27027497_27,036112dup8616 | NM_001003343.1:c.7528-4048_7645+4450dup | NP_001003343.1:p.(I2549Sfs*3) | 2024 | 39307576 | ||||
| 1687 | OMIA:002847-9615 | dog | Portuguese Water Dog (Dog) | Microphthalmos with hematopoietic defects, congenital | DNAJC21 | insertion, gross (>20) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 4 | NC_049225.1:g.74274883ins[T70]TGCTGCTTGGATT | 2024 | 38682429 | ||||||
| 39 | OMIA:001466-9615 | dog | Boykin Spaniel (Dog) Chesapeake Bay Retriever (Dog) Curly Coated Retriever (Dog) Labrador Retriever (Dog) Pembroke Welsh Corgi (Dog) | Exercise-induced collapse | DNM1 | missense | Naturally occurring variant | yes | CanFam3.1 | 9 | 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 | 2008 | 18806795 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |
| 1434 | OMIA:002534-9615 | dog | Border Collie (Dog) | Centronuclear myopathy 1 | DNM2 | missense | Naturally occurring variant | yes | CanFam3.1 | 20 | g.50423497G>A | c.1393C>T | p.(R465W) | XM_005632882.3; XP_005632939.1. | 2022 | 35244154 | |||
| 1194 | OMIA:002266-9615 | dog | Rottweiler (Dog) | Hyperkeratosis, palmoplantar, DSG1-related | DSG1 | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 7 | g.58163636_58163640del | c.2541_2545del | p.(G848Wfs*2) | NM_001002939.1; NP_001002939.1; published as c.2541_2545delGGGCT | 2020 | 32344723 | |||
| 1710 | OMIA:002243-9615 | dog | Poodle, Miniature (Dog) | Ichthyosis, syndromic | DSP | deletion, small (<=20) | Naturally occurring variant | unknown | UU_Cfam_GSD_1.0 | 35 | NC_049256.1:g.8804542_8804544del | XM_038584124.1:c.1821_1823del | XP_038440052.1:p.(N608del) | de novo variant in one dog | 2024 | 39136317 | |||
| 1056 | OMIA:002186-9615 | dog | Boston Terrier (Dog) Bulldog (Dog) French Bulldog (Dog) | Screw tail | DVL2 | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 5 | g.32195051del | c.2051del | p.(P684Lfs*26) | XM_005619960.3; XP_005620017.1; published as g.32195043_32195044del; c.2044delC and changed to HGVS nomenclature in this table | 2018 | 30521570 | |||
| 1458 | OMIA:000543-9615 | dog | Mixed Breed (Dog) | X-linked hypohidrotic ectodermal dysplasia | EDA | splicing | Naturally occurring variant | yes | CanFam3.1 | X | r.385_487del | p.M129fs*112 | NM_001014770.2; NP_001014770.1; EDA transcript lacks 103 nucleotides encoded by exon 2, exon skipping is likely to be caused by an intronic splice variant | 2016 | 27449516 | ||||
| 1017 | OMIA:000543-9615 | dog | Dachshund (Dog) | X-linked hypohidrotic ectodermal dysplasia | EDA | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | X | g.54509504del | c.842delT | p.(L281Hfs*22) | 2018 | 30276836 | ||||
| 361 | OMIA:000543-9615 | dog | German Shepherd Dog (Dog) | Anhidrotic ectodermal dysplasia | EDA | splicing | Naturally occurring variant | yes | CanFam3.1 | X | 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. | ||
| 1481 | OMIA:002564-9615 | dog | English Springer Spaniel (Dog) | Dyserythropoietic anemia and myopathy syndrome (DAMS) | EHBP1L1 | deletion, small (<=20) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 18 | g.52123541delG | c.3120delC | p.(F1041Sfs*30) | XM_038563927.1; XP_038419855.1 | 2022 | 36140701 | |||
| 1483 | OMIA:002564-9615 | dog | Labrador Retriever (Dog) | Congenital dyserythropoietic anemia and polymyopathy | EHBP1L1 | nonsense (stop-gain) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 18 | g.52128140G>A | c.388C>T | p.(R130*) | XM_038563927.1; | 2022 | 36011338 | |||
| 1044 | OMIA:001805-9615 | dog | Parson Russell Terrier (Dog) | 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 | OMIA:001805-9615 | dog | Italian Greyhound (Dog) | 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 | OMIA:002550-9615 | dog | Rhodesian Ridgeback (Dog) | 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 | OMIA:001214-9615 | dog | American Staffordshire Terrier (Dog) | 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 | OMIA:000363-9615 | dog | Kerry Blue Terrier (Dog) | Factor XI deficiency | F11 | insertion, gross (>20) | Naturally occurring variant | yes | CanFam3.1 | 16 | g.44477343_44477344ins90 | c.819_820ins90 | NM_001135123.1 "an insertion of 90 bp (SINE) inside of coding exon 7" resulting in a "30 amino acids insertion in the A3 domain of FXI serine protease" (Tcherneva et al., 2007). | 2007 | Reference not in PubMed; see OMIA 000363-9615 for reference details | g. and c. coordinates kindly provided by Professor Urs Giger (27 August 2022) | |||
| 40 | OMIA:000361-9615 | dog | Airedale Terrier (Dog) Alaskan Husky (Dog) Alaskan Klee Kai (Dog) American Foxhound (Dog) Basset Hound (Dog) Beagle (Dog) Catahoula Leopard Dog (Dog) Dachshund, Miniature Smooth-Haired (Dog) English Foxhound (Dog) Finnish Hound (Dog) German Shorthaired Pointer (Dog) German Wirehaired Pointer (Dog) Giant Schnauzer (Dog) Harrier (Dog) Irish Water Spaniel (Dog) Japanese Spitz (Dog) Miniature Schnauzer (Dog) Papillon (Dog) Phalène (Dog) Redbone Coonhound (Dog) Scottish Deerhound (Dog) Sealyham Terrier (Dog) Welsh Springer Spaniel (Dog) Whippet (Dog) | 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; variant initially identified in Beagle and later reported in additional breeds: PMID:17939552; PMID: 27525650; PMID:34544496; PMID:29708978 | |||
| 363 | OMIA:000437-9615 | dog | Irish Setter (Dog) Miniature Schnauzer (Dog) | Haemophilia A | F8 | splicing | Naturally occurring variant | yes | X | intronic inversion that results in "aberrant splicing and premature termination" | 2002 | 12008949 | |||||||
| 1655 | OMIA:000437-9615 | dog | Border Collie (Dog) | Haemophilia A | F8 | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | X | g.122956942delA | c.3206delA | NM_001003212.1 | 2023 | 38104983 | ||||
| 350 | OMIA:000437-9615 | dog | Old English Sheepdog (Dog) | 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 | OMIA:000437-9615 | dog | German Shepherd Dog (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 | OMIA:000437-9615 | dog | Boxer (Dog) | 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 | OMIA:000437-9615 | dog | German Shepherd Dog (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 | OMIA:000437-9615 | dog | Rhodesian Ridgeback (Dog) | Haemophilia A | F8 | insertion, gross (>20) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | X | g.124073876_124073877insN[221] | c.4824_4825insN[221] | NM_001003212.1; published as c.4824_25ins221, genomic coordinates published as chrX: 1240738676_77. After review of the position in the reference genome on the 17/7/2023 the genomic coordinates have been updated to g.124073876_124073877insN[221] in this table. | 2021 | 33494213 | ||||
| 1588 | OMIA:000437-9615 | dog | Labrador Retriever (Dog) | Haemophilia A | F8 | deletion, small (<=20) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | X | g.124075777_124075778del | c.2923_2924del | p.(E975Kfs*8) | NM_001003212.1; NP_001003212 | 2023 | 37438956 | |||
| 636 | OMIA:000438-9615 | dog | Labrador Retriever (Dog) | Haemophilia B | F9 | deletion, gross (>20) | Naturally occurring variant | yes | X | a deletion of the entire gene | 1997 | 9394892 | |||||||
| 637 | OMIA:000438-9615 | dog | American Pit Bull Terrier (Dog) | 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 | OMIA:000438-9615 | dog | Hovawart (Dog) | 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 | OMIA:000438-9615 | dog | German Wirehaired Pointer (Dog) | 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 | OMIA:000438-9615 | dog | Lhasa Apso (Dog) | 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 | OMIA:000438-9615 | dog | Rhodesian Ridgeback (Dog) | 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 | OMIA:000438-9615 | dog | Newfoundland (Dog) | 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 | OMIA:000438-9615 | dog | Airedale Terrier (Dog) | 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 | OMIA:000438-9615 | dog | Cairn Terrier (Dog) | 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 | OMIA:002032-9615 | dog | Border Collie (Dog) Mixed Breed (Dog) | 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 | OMIA:002032-9615 | dog | German Spitz (Dog) Mixed Breed (Dog) | Neuropathy, sensory | FAM134B | missense | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 4 | NC_049225.1:G.88169941C>T | NM_001314111.1:c.656C>T | NP_001301040.1:p.(P219L) | Initially reported in a mixed breed dog, later reported in a German Spitz (PMID: 39377488). | 2021 | 34387380 | |||
| 925 | OMIA:001918-9615 | dog | Tibetan Spaniel (Dog) Tibetan Terrier (Dog) | Retinal atrophy, progressive, type 3, FAM161A-related | FAM161A | PRA3 | 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 | ||||
| 1706 | OMIA:001918-9615 | dog | English Shepherd (Dog) | Retinal atrophy, progressive, type 6, FAM161A-related | FAM161A | PRA6 | insertion, gross (>20) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 10 | NC_049231.1:g.63116065_63116066ins[N[210];63116051_63116065] | XM_038551371.1:c.1728_1729ins[N[210];1714-1728] | XP_038407299.1:p.(Q576_M577ins*50)) | published as XP_005626197.1 c.17929_ins210 | 2024 | 39062732 | ||
| 102 | OMIA:002015-9615 | dog | Border Collie (Dog) | 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 | OMIA:001327-9615 | dog | Bedlington Terrier (Dog) Irish Terrier (Dog) Kromfohrlander (Dog) | 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. Additional breed informationbased on Makri et al. (2021) | |||
| 460 | OMIA:001683-9615 | dog | Cavalier King Charles Spaniel (Dog) | 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 | OMIA:002683-9615 | dog | Basenji (Dog) | 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 002683-9615 for reference details | |||||||
| 576 | OMIA:001525-9615 | dog | German Shepherd Dog (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 | OMIA:002382-9615 | dog | Dachshund, Miniature Wire-Haired (Dog) | 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 | 2021 | 34356081 | ||
| 929 | OMIA:000272-9615 | dog | Rhodesian Ridgeback (Dog) Thai Ridgeback (Dog) | 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 | OMIA:002542-9615 | dog | Basset Hound (Dog) Cairn Terrier (Dog) Cardigan Welsh Corgi (Dog) Dachshund (Dog) Dandie Dinmont Terrier (Dog) Lancashire Heeler (Dog) Norwich Terrier (Dog) Pekingese (Dog) Pembroke Welsh Corgi (Dog) Petit Basset Griffon Vendeen (Dog) Shih Tzu (Dog) Skye Terrier (Dog) Swedish Vallhund (Dog) Tibetan Spaniel (Dog) West Highland White Terrier (Dog) | 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 | OMIA:000157-9615 | dog | American Cocker Spaniel (Dog) Basset Hound (Dog) Beagle (Dog) Cardigan Welsh Corgi (Dog) Chesapeake Bay Retriever (Dog) Chihuahua (Dog) Coton de Tulear (Dog) Dachshund (Dog) English Springer Spaniel (Dog) French Bulldog (Dog) Nova Scotia Duck Tolling Retriever (Dog) | 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 | OMIA:002133-9615 | dog | Nova Scotia Duck Tolling Retriever (Dog) | 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 | OMIA:000439-9615 | dog | Afghan Hound (Dog) Border Collie (Dog) Cocker Spaniel (Dog) Collie (Dog) Dachshund (Dog) German Shepherd Dog (Dog) Golden Retriever (Dog) Pembroke Welsh Corgi (Dog) Pomeranian (Dog) Samoyed (Dog) | 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 | 2006 | 16879338 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |
| 418 | OMIA:000439-9615 | dog | Afghan Hound (Dog) | 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 | 2013 | 23384345 | 30 Dec 2020: g. coordinate corrected: thanks to Angelica K Kallenberg | ||
| 952 | OMIA:000439-9615 | dog | Eurasier (Dog) | 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 | OMIA:000439-9615 | dog | Afghan Hound (Dog) Eurasier (Dog) | 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 | OMIA:000439-9615 | dog | Akita (Dog) Samoyed (Dog) | 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 | OMIA:001335-9615 | dog | German Shepherd Dog (Dog) | Renal cystadenocarcinoma and nodular dermatofibrosis | FLCN | missense | Naturally occurring variant | yes | CanFam3.1 | 5 | g.42186445A>G | c.764A>G | p.(H255R) | rs1152388411 | 2003 | 14532326 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
| 531 | OMIA:000526-9615 | dog | Weimaraner (Dog) | 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 | OMIA:000323-9615 | dog | Chinese Crested (Dog) Peruvian Hairless Dog (Dog) Xoloitzcuintli (Dog) | 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 | OMIA:000396-9615 | dog | English Springer Spaniel (Dog) | 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 | OMIA:002536-9615 | dog | Wirehaired Pointing Griffon (Dog) | 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 | OMIA:000418-9615 | dog | German Pinscher (Dog) | 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 | OMIA:000418-9615 | dog | Maltese (Dog) | 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 | OMIA:000419-9615 | dog | Finnish Lapphund (Dog) Swedish Lapphund (Dog) | 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 | OMIA:000578-9615 | dog | Irish Setter (Dog) | 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 | OMIA:000578-9615 | dog | Cairn Terrier (Dog) West Highland White Terrier (Dog) | 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 | ||
| 1607 | OMIA:000578-9615 | dog | Mixed Breed (Dog) | Krabbe disease | GALC | missense | Naturally occurring variant | yes | Dog10K_Boxer_Tasha | 8 | g.58893972G>A | c.149C>T | p.(A50V) | NM_001003238.1; NP_001003238.1; published as NC_006590.4:g.58893972G>A | 2023 | 37593836 | |||
| 1150 | OMIA:002362-9615 | dog | Entlebucher Mountain Dog (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 | OMIA:001514-9615 | dog | English Pointer (Dog) English Springer Spaniel (Dog) French Spaniel (Dog) German Shorthaired Pointer (Dog) | 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 | OMIA:001208-9615 | dog | Labrador Retriever (Dog) | Alexander disease | GFAP | missense | Naturally occurring variant | yes | CanFam3.1 | 9 | g.18572769G>A | c.719G>A | p.(R240H) | rs850986067 | 2016 | 26486469 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
| 1232 | OMIA:001473-9615 | dog | Chihuahua (Dog) | 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; variant initially identified in Chihuahuas and later reported in additional breeds: PMID: 37582787 | 2020 | 32646299 | Genomic coordinates in CanFam3.1 provided by Robert Kuhn | ||
| 794 | OMIA:002119-9615 | dog | Leonberger (Dog) | Polyneuropathy (LPN2) | GJA9 | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 15 | g.3863524_3863525del | c.1107_1108delAG | p.(A370Nfs*12) | 2017 | 28841859 | ||||
| 41 | OMIA:000402-9615 | dog | Portuguese Water Dog (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 | |||
| 462 | OMIA:000402-9615 | dog | Shiba Inu (Dog) | Gangliosidosis, GM1 | GLB1 | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 23 | g.3796317delC | c.1649delC | p.(P550Rfs*50) | 2002 | 12555949 | The variant coordinates are those reported by Pervin et al. (2022) Animals 12(10), 1242. | |||
| 573 | OMIA:000402-9615 | dog | Alaskan Husky (Dog) | 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 | |||
| 1571 | OMIA:000689-9615 | dog | Miniature Australian Shepherd Dog (Dog) | Hyperekplexia | GLRA1 | deletion, gross (>20) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 4 | g.58338954_58338989del | published as a 36-bp deletion encompassing part of the intron 1 and exon 2 (chr4:g.58,338,953); coordinates in the this table are in accordance with HGVS nomenclature | 2023 | 37222814 | |||||
| 1097 | OMIA:002207-9615 | dog | Cocker Spaniel (Dog) | 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 | ||||
| 1487 | OMIA:002569-9615 | dog | Poodle (Dog) | Coat colour, dark red | GPR22 | insertion, gross (>20) | Naturally occurring variant | no | 18 | insertion of a full length SNN retrocopy within the intron of COG5 and 2.8kbp upstream of GPR22 is incompletely associated with the phenotype | 2022 | 36047852 | |||||||
| 693 | OMIA:000078-9615 | dog | Coton de Tulear (Dog) | Ataxia, cerebellar | GRM1 | insertion, gross (>20) | Naturally occurring variant | yes | 1 | "a 62-bp truncated retrotransposon insert in exon 8" | 2011 | 21281350 | |||||||
| 1536 | OMIA:002646-9615 | dog | German Spitz (Dog) | Progressive retinal atrophy | GUCY2D | insertion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 5 | g.32849537_32849538insT | c.1598_1599insT | p.(S534Efs*20) | NM_001003207.1; NP_001003207.1 | 2023 | 36872573 | |||
| 58 | OMIA:000667-9615 | dog | Brazilian Terrier (Dog) | 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 | OMIA:000667-9615 | dog | German Shepherd Dog (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 | 1998 | 9521879 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |
| 924 | OMIA:001374-9615 | dog | Labrador Retriever (Dog) | 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 | OMIA:002522-9615 | dog | Norwegian Elkhound (Dog) | 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 | OMIA:001561-9615 | dog | Chinese Shar-Pei (Dog) | 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", variant is associated with the disease but may not be causal | 2011 | 21437276 | |||||||
| 64 | OMIA:000703-9615 | dog | Dachshund (Dog) | 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 | OMIA:000703-9615 | dog | Doberman Pinscher (Dog) | 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 | OMIA:000703-9615 | dog | Labrador Retriever (Dog) | 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 | rs1152388413 | 1999 | 10458611 | |||
| 535 | OMIA:001944-9615 | dog | Miniature Schnauzer (Dog) | 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 | OMIA:001461-9615 | dog | Japanese Chin (Dog) | Gangliosidosis, GM2, type I | HEXA | missense | Naturally occurring variant | yes | CanFam3.1 | 30 | g.35841247C>T | c.967G>A | p.(E323K) | 2013 | 23266199 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||
| 463 | OMIA:001462-9615 | dog | Poodle, Toy (Dog) | 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 | OMIA:001462-9615 | dog | Shiba Inu (Dog) | 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 | OMIA:001311-9615 | dog | Miniature Schnauzer (Dog) | Progressive retinal atrophy, Miniature Schnauzer, type 1 | HIVEP3 | probably not causal, can be used as linked marker for genetic testing | not known | 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 | OMIA:002275-9615 | dog | French Bulldog (Dog) | Coat colour, 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 | OMIA:002777-9615 | dog | Dachshund (Dog) | Disorder of sexual development, HSD17B3-related | 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 | OMIA:001758-9615 | dog | Australian Shepherd (Dog) | 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 | OMIA:001758-9615 | dog | Boston Terrier (Dog) Staffordshire Bull Terrier (Dog) | 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 | |||
| 1604 | OMIA:000706-9615 | dog | Nederlandse Kooikerhondje (Dog) | Necrotising myelopathy | IBA57 | missense | Naturally occurring variant | yes | CanFam3.1 | 14 | g.801179G>A | c.439C>T | p.(R147W) | XM_038686047.1; XP_038541975.1 | 2023 | 37588046 | |||
| 1237 | OMIA:000664-9615 | dog | Golden Retriever (Dog) | 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 | OMIA:000664-9615 | dog | Plott Hound (Dog) | Mucopolysaccharidosis I | IDUA | splicing | Naturally occurring variant | yes | CanFam3.1 | 3 | g.91534420C>T | c.155+1G>A | NM_001313883.1 | rs1152388407 | 1992 | 1339393 | |||
| 1190 | OMIA:000664-9615 | dog | Boston Terrier (Dog) | 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 | OMIA:002320-9615 | dog | Lapponian Herder (Dog) | 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 | OMIA:002524-9615 | 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 | OMIA:000899-9615 | dog | Cardigan Welsh Corgi (Dog) | 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 | OMIA:000899-9615 | dog | Basset Hound (Dog) | 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 | OMIA:002289-9615 | dog | Lhasa Apso (Dog) | 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 | OMIA:002173-9615 | dog | Norwich Terrier (Dog) | 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 | OMIA:001675-9615 | dog | American Pit Bull Terrier (Dog) | 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 | OMIA:001886-9615 | dog | Chinook (Dog) Karelian Bear Dog (Dog) Norwegian Elkhound (Dog) | 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, additional breed inforamtion based on PMID:27525650 | 2013 | 24086591 | Genomic coordinates in CanFam3.1 provided by Robert Kuhn | ||
| 1569 | OMIA:001000-9615 | dog | Golden Retriever (Dog) | Thrombastenia | ITGA2B | deletion, small (<=20) | Naturally occurring variant | yes | 9 | Published in a conference proceeding as (1924delC) | 2017 | Reference not in PubMed; see OMIA 001000-9615 for reference details | |||||||
| 80 | OMIA:001000-9615 | dog | Otterhound (Dog) | 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 | Breed was incorrectly listed as Scottish Deerhound. Changed to Otterhound [19/5/2023] | ||
| 1568 | OMIA:001000-9615 | dog | Mixed Breed (Dog) | Thrombasthenia | ITGA2B | nonsense (stop-gain) | Naturally occurring variant | yes | CanFam3.1 | 9 | g.19057141C>T | 1357C>T | p.(R453*) | NM_001003163.2; NP_001003163.1; published as (C1264T) and (R422X), coordinates in this table have been updated to a recent reference genome | 2016 | 26764135 | |||
| 369 | OMIA:001000-9615 | dog | Great Pyrenees (Dog) | 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 | OMIA:000595-9615 | dog | Irish Red and White Setter (Dog) Irish Setter (Dog) | 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 | 1999 | 10512685 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |
| 754 | OMIA:002097-9615 | dog | Italian Spinone (Dog) | 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 | OMIA:000809-9615 | dog | Mixed Breed (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 | OMIA:002240-9615 | dog | Norwegian Buhund (Dog) | 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 | OMIA:002089-9615 | dog | Dachshund (Dog) Jack Russell Terrier (Dog) Parson Russell Terrier (Dog) Smooth Fox Terrier (Dog) | 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; reference for Dachshund is PMID:37905444 | rs1152388456 | 2014 | 24708069 | Genomic coordinates in CanFam3.1 and EVA ID provided by Zoe Shmidt and Robert Kuhn. | |
| 947 | OMIA:002089-9615 | dog | Belgian Shepherd Dog, Malinois (Dog) | 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 | OMIA:002089-9615 | dog | Jack Russell Terrier (Dog) | 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." | rs1152388457 | 2016 | 27724896 | |||
| 1596 | OMIA:002332-9615 | dog | English Springer Spaniel (Dog) | Long QT syndrome | KCNQ1 | missense | Naturally occurring variant | yes | CanFam3.1 | 18 | g.46604412C>A | c.770C>A | p.(T257K) | XM_022405121.1; XP_022260829.1; published as "Genbank KF439050, KCNQ1_T377K" - coordinates in this table are updated to a recent reference genome. | 2015 | 25779927 | |||
| 570 | OMIA:001737-9615 | 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 | OMIA:001516-9615 | 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 | OMIA:001516-9615 | 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 | OMIA:001737-9615 | 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 | OMIA:001787-9615 | dog | Poodle, Standard (Dog) | Squamous cell carcinoma of the digit | KITLG | repeat variation | Naturally occurring variant | yes | 15 | a copy number variant (CNV) of KITLG | 2013 | 23555311 | |||||||
| 1145 | OMIA:002228-9615 | dog | Nova Scotia Duck Tolling Retriever (Dog) Poodle (Dog) | 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 | OMIA:000819-9615 | dog | Shih Tzu (Dog) | 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 | |||
| 1495 | OMIA:002425-9615 | dog | Chinese Shar-Pei (Dog) | Ichthyosis, KRT1-related | KRT1 | deletion, small (<=20) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 27 | g.44229728_44229730del | c.567_569del | p.(N190del) | NM_001003392.1; NP_001003392.1 | 2022 | 36251712 | |||
| 364 | OMIA:001415-9615 | dog | Norfolk Terrier (Dog) | 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 | ||||
| 1579 | OMIA:001415-9615 | dog | Chihuahua (Dog) | Ichthyosis, epidermolytic | KRT10 | missense | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 9 | g.21814695G>A | c.437G>A | p.(R146H) | XM_038547368.1; XP_038403296 | 2023 | 37332248 | |||
| 936 | OMIA:002088-9615 | dog | Dogue de Bordeaux (Dog) | 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 | |||
| 1480 | OMIA:002081-9615 | dog | Cardigan Welsh Corgi (Dog) | Epidermolysis bullosa, simplex, KRT5-related | KRT5 | missense | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 27 | g.44080887C>T | c.1426G>A | p.(E476K) | NM_001346035.1; NP_001332964.1 | 2022 | 36004757 | |||
| 1697 | OMIA:002081-9615 | dog | German Shepherd Dog (Dog) | Epidermolysis bullosa simplex, localized, KRT5-related | KRT5 | delins, small (<=20) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 27 | NC_049248.1:g.44081942_44091959del | NM_001346035.1:c.988_1005del | NP_001332964.1:p.(N330_D335del) | 2024 | 38742646 | ||||
| 35 | OMIA:000245-9615 | dog | Portuguese Water Dog (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 | OMIA:000245-9615 | dog | Bichon Frise (Dog) Chesapeake Bay Retriever (Dog) Curly Coated Retriever (Dog) Irish Terrier (Dog) Lagotto Romagnolo (Dog) Spanish Water Dog (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 | OMIA:001371-9615 | dog | Staffordshire Bull Terrier (Dog) | 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 | OMIA:001371-9615 | dog | Yorkshire Terrier (Dog) | 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 | OMIA:002459-9615 | dog | Staffordshire Bull Terrier (Dog) | 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 | OMIA:002459-9615 | dog | Italian Greyhound (Dog) | 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 | OMIA:001677-9615 | dog | German Pointer (Dog) | 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 | OMIA:001677-9615 | dog | Australian Cattle Dog X | Epidermolysis bullosa, junctionalis, LAMA3 | LAMA3 | missense | Naturally occurring variant | yes | CanFam3.1 | 7 | g.64427161T>A | c.8615T>A | p.(D2867V) | cDNA and protein positions based on XM_537297.6 and XP_537297.2, respectively | 2021 | 34250689 | |||
| 1239 | OMIA:002269-9615 | dog | Australian Shepherd (Dog) | 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 | OMIA:002251-9615 | dog | Airedale Terrier (Dog) | Surfactant metabolism dysfunction, pulmonary | LAMP3 | missense | Naturally occurring variant | yes | CanFam3.1 | 34 | g.16092728C>T | c.1159G>A | p.(E387K) | 2020 | 32150563 | ||||
| 1371 | OMIA:002460-9615 | dog | Labrador Retriever (Dog) | 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 | OMIA:001596-9615 | dog | Lagotto Romagnolo (Dog) | 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 | OMIA:002314-9615 | dog | Czechoslovakian Wolfdog (Dog) German Shepherd Dog (Dog) Saarloos Wolfhond (Dog) Tibetan Terrier (Dog) | 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 | OMIA:002314-9615 | dog | German Shepherd Dog (Dog) | Pituitary dwarfism | LHX3 | insertion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 9 | NC_006591.3:g.49252491_49252493dup | NM_001197187.1:c.545_547dup | NP_001184116.1:p.(N182dup) | published as c.545_547dupACA | 2011 | 22132174 | Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn. | ||
| 1583 | OMIA:002700-9615 | dog | Australian Shepherd (Dog) | Hyposegmentation of granulocytes | LMBR1L | splicing | Naturally occurring variant | unknown | UU_Cfam_GSD_1.0 | 27 | g.41169674C>T | c.191+1G>A | XM_038577534.1 | 2023 | 37347778 | ||||
| 1638 | OMIA:002796-9615 | dog | Nova Scotia Duck Tolling Retriever (Dog) | Cardiomyopathy, dilated, LMNA-related | LMNA | deletion, small (<=20) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 7 | g.41688530del | c.1726del | p.(D576Tfs*124) | NM_001287151.1; NP_001274080 | 2023 | 37925523 | |||
| 108 | OMIA:002071-9615 | dog | Labrador Retriever (Dog) | 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 | OMIA:001928-9615 | dog | Golden Retriever (Dog) | 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 | OMIA:001928-9615 | dog | Labrador Retriever (Dog) | 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 | OMIA:002336-9615 | dog | Rottweiler (Dog) | 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 | OMIA:001486-9615 | dog | Beagle (Dog) | 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 | |||
| 1628 | OMIA:000625-9615 | dog | Doberman Pinscher (Dog) | Mannosidosis, alpha | MAN2B1 | missense | Naturally occurring variant | unknown | Dog10K_Boxer_Tasha | 20 | g.49320989A>G | c.311A>G | p.(D104G) | XM_005632833.4; XP_005632890.1 | 2023 | 37761886 | |||
| 1093 | OMIA:000626-9615 | dog | Mixed Breed (Dog) | 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 | OMIA:000626-9615 | dog | German Shepherd Dog (Dog) | Beta mannosidosis | MANBA | missense | Naturally occurring variant | yes | CanFam3.1 | 32 | g.24147500A>T | c.560T>A | p.(I187N) | 2019 | 30983534 | ||||
| 943 | OMIA:001432-9615 | dog | Dachshund, Miniature Long-Haired (Dog) | 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 | OMIA:001199-9615 | dog | Irish Setter (Dog) Labrador Retriever (Dog) | 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 | 2000 | 10602988 | Genomic location provided by Professor Claire Wade |
| 1645 | OMIA:001199-9615 | dog | Alaskan Klee Kai (Dog) Alaskan Malamute (Dog) Basenji (Dog) Basset Fauve de Bretagne (Dog) Beagle (Dog) Chesapeake Bay Retriever (Dog) Chihuahua (Dog) Chinese Crested (Dog) Chinook (Dog) English Foxhound (Dog) Finnish Hound (Dog) Finnish Lapphund (Dog) Finnish Spitz (Dog) Karelian Bear Dog (Dog) Lapponian Herder (Dog) Peruvian Hairless Dog (Dog) Phalène (Dog) Plott Hound (Dog) Saarloos Wolfhond (Dog) Siberian Husky (Dog) Tamaskan Dog (Dog) | Coat colour, reduced expression of eumelanin | MC1R | e^A | missense | Naturally occurring variant | no | CanFam3.1 | 5 | g.63694349G>A | c.901C>T | p.(R301C) | NM_001014282.2; NP_001014304.2; variant was initially identified in ancient canids and later reported in additional breeds PMID:33292722 | 2013 | 24098367 | ||
| 997 | OMIA:001199-9615 | dog | Alaskan Husky (Dog) Siberian Husky (Dog) | 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 | OMIA:001590-9615 | dog | Belgian Shepherd Dog, Malinois (Dog) Leonberger (Dog) | Black melanistic mask | MC1R | E^M | missense | Naturally occurring variant | no | CanFam3.1 | 5 | g.63694460C>T | c.790A>G | p.(M264V) | rs24201590 | 2003 | 12692165 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. Correction to genomic details provided by Professor Claire Wade. | |
| 1681 | OMIA:001199-9615 | dog | English Cocker Spaniel (Dog) | Coat colour, sable | MC1R | e^H | missense | Naturally occurring variant | no | CanFam3.1 | 5 | g.63695000C>T | c.250G>A | p.(D84N) | NM_001014282.2; NP_001014304.2; NC_006587.3 | 2024 | 38282569 | ||
| 32 | OMIA:001495-9615 | dog | Afghan Hound (Dog) Saluki (Dog) | 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 | OMIA:001199-9615 | dog | Australian Cattle Dog (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 | |||
| 1603 | OMIA:002750-9615 | dog | reduced hair shedding | MC5R | missense | Naturally occurring variant | unknown | UU_Cfam_GSD_1.0 | 1 | g.24541931C>T | c.709G>A | p.(A237T) | XM_038525579.1; XP_038381507.1; the variant is reported to be associated with reduced hair shedding and shorter hair length and may not be causal | 2016 | 26795439 | ||||
| 1437 | OMIA:002716-9615 | dog | German Shepherd Dog (Dog) | Congenital idiopathic megaesophagus, risk factor | 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 | ||||||
| 1658 | OMIA:002814-9615 | dog | Eurasier (Dog) | Polioencephalopathy | MECR | missense | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 2 | g.70793040A>G | c.823A>G | p.(M275V) | XM_038531348.1; XP_038387276.1, variant reported in 3 affected dogs | 2023 | 38041431 | |||
| 819 | OMIA:001932-9615 | dog | Swedish Vallhund (Dog) | 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 | |||||
| 1489 | OMIA:002551-9615 | dog | Bull Mastiff (Dog) | Mitochondrial fission encephalopathy | MFF | delins, small (<=20) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 25 | g.40322999_40323003delinsCGCTCT | c.471_475delinsCGCTCT | p.(E158Afs*14) | XM_038574000.1; XP_038429928.1 | 2022 | 36085405 | |||
| 472 | OMIA:002153-9615 | dog | Schnauzer-Beagle Cross (Dog) | 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 | OMIA:002197-9615 | dog | Afghan Hound (Dog) Akita (Dog) Alaskan Malamute (Dog) Bichon Frise (Dog) Coton de Tulear (Dog) German Shepherd Dog (Dog) Leonberger (Dog) Poodle (Dog) Pug (Dog) Puli (Dog) Saluki (Dog) Samoyed (Dog) Schnauzer (Dog) Scottish Terrier (Dog) West Highland White Terrier (Dog) White Swiss Shepherd Dog (Dog) | Coat colour, white or cream | MFSD12 | missense | Naturally occurring variant | no | UU_Cfam_GSD_1.0 | 20 | NC_049241.1:g.56252402C>T | XM_038567816.1:c.151C>T | XP_038423744.1:p.(R51C) | rs22915955 | 2019 | 31117290 | The cDNA coordinate kindly provided by Tosso Leeb [19/05/23] and genomic coordinates were corrected by Claire Wade [30/05/24] ; the previously linked EVA ID (rs22915955) was removed as incorrect [30/05/2024] | ||
| 551 | OMIA:001962-9615 | dog | Chihuahua (Dog) 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 | OMIA:002465-9615 | dog | Italian Cane Corso (Dog) | 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 | |||
| 1085 | OMIA:001040-9615 | dog | Rhodesian Ridgeback (Dog) | Ventricular arrhythmias and sudden death | MICOS13 | missense | Naturally occurring variant | yes | CanFam3.1 | 20 | g.54343438G>A | c.325G>A | p.(G109S) | ENSCAFG00000018796: g.54343438 G>A. ENSCAFT00000029838.4:c.325G>A ENSCAFP00000027731.3:p.G109S) | rs852200012 | 2019 | 30795627 | ||
| 424 | OMIA:000214-9615 | 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 | OMIA:002146-9615 | dog | Bull Terrier (Dog) Miniature Bull Terrier (Dog) | 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 | OMIA:000031-9615 | dog | American Staffordshire Terrier (Dog) Beagle (Dog) Belgian Shepherd Dog, Malinois (Dog) Doberman Pinscher (Dog) German Pinscher (Dog) Large Munsterlander (Dog) Miniature Pinscher (Dog) Rhodesian Ridgeback (Dog) | 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 | OMIA:000031-9615 | dog | Chihuahua (Dog) Italian Greyhound (Dog) Mudi (Dog) Pekingese (Dog) Pumi (Dog) Shetland Sheepdog (Dog) Shih Tzu (Dog) Tibetan Mastiff (Dog) Yorkshire Terrier (Dog) | 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 | OMIA:000031-9615 | dog | Chow Chow (Dog) Sloughi (Dog) Thai Ridgeback (Dog) | Dilute | MLPH | d^2 | missense | Naturally occurring variant | yes | CanFam3.1 | 25 | g.48150787G>C | c.705G>C | p.(Q235H) | 2018 | 29349785 | |||
| 1356 | OMIA:001819-9615 | dog | Cavalier King Charles Spaniel (Dog) English Cocker Spaniel (Dog) | 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 | OMIA:001819-9615 | dog | Manchester Terrier (Dog) | 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 | OMIA:001819-9615 | dog | Dachshund (Dog) | 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 | OMIA:002028-9615 | dog | Italian Hound (Dog) | 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 | |||
| 1592 | OMIA:002739-9615 | dog | Golden Retriever (Dog) | Polyneuropathy, hypomyelinating, MPZ-related | MPZ | missense | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 38 | g.22037876T>C | c.434T>C | p.(I145T) | XM_038585926.1; XP_038441854.1; heterozygous in a single affected dog | 2023 | 37400349 | |||
| 470 | OMIA:000683-9615 | dog | Whippet (Dog) | 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 | OMIA:001561-9615 | dog | Chinese Shar-Pei (Dog) | Periodic Fever Syndrome | MTBP | missense | Naturally occurring variant | yes | CanFam3.1 | 13 | g.19383758G>A | c.2623G>A | p.(E875K) | rs1152388482 | 2017 | 28472921 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
| 63 | OMIA:001508-9615 | dog | Labrador Retriever (Dog) | 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 | OMIA:001508-9615 | dog | Rottweiler (Dog) | 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. | ||
| 1459 | OMIA:001508-9615 | dog | Boykin Spaniel (Dog) | Myotubular myopathy 1 | MTM1 | nonsense (stop-gain) | Naturally occurring variant | yes | CanFam3.1 | X | g.118903496C>T | c.1467C>T | p.(R512*) | ENSCAFP00000028221.3 | 2020 | 32417001 | |||
| 1591 | OMIA:002727-9615 | dog | Golden Retriever (Dog) | Polyneuropathy, hypomyelinating, MTMR2-related | MTMR2 | splicing | Naturally occurring variant | unknown | UU_Cfam_GSD_1.0 | 21 | g.5387227G>A | c.1479+1G>A | XM_038568229.1, reported in two dogs | 2023 | 37400349 | ||||
| 1524 | OMIA:001467-9615 | dog | Golden Retriever (Dog) | Neuropathy, sensory ataxic | MTTY | deletion, small (<=20) | Naturally occurring variant | yes | M | m.5304del | 2009 | 19492087 | |||||||
| 55 | OMIA:001608-9615 | dog | Pug (Dog) | 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 | OMIA:001501-9615 | dog | Dachshund, Miniature (Dog) | 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 | OMIA:002148-9615 | dog | Doberman Pinscher (Dog) | 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 | OMIA:001342-9615 | dog | Schipperke (Dog) | 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 | OMIA:001788-9615 | dog | Great Dane (Dog) Rottweiler (Dog) | Leukoencephalomyelopathy | NAPEPLD | insertion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 18 | g.16987327_16987328insC | c.345_346insC | p.(E116Rfs*186) | 2018 | 29643404 | ||||
| 985 | OMIA:001788-9615 | dog | Leonberger (Dog) | Leukoencephalomyelopathy | NAPEPLD | missense | Naturally occurring variant | yes | CanFam3.1 | 18 | g.16987520G>C | c.538G>C | p.(A180P) | 2018 | 29643404 | ||||
| 1315 | OMIA:002348-9615 | dog | English Cocker Spaniel (Dog) | 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 | OMIA:002120-9615 | dog | Greyhound (Dog) | 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 | OMIA:002120-9615 | dog | Alaskan Malamute (Dog) | 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 | ||
| 1679 | OMIA:002840-9615 | dog | Mixed Breed (Dog) | Leigh syndrome | NDUFS7 | missense | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 20 | g.57913322G>A | c.535G>A | p.(V179M) | XM_038568001.1; XP_038423929.1 | 2024 | 38316835 | |||
| 961 | OMIA:002137-9615 | dog | American Bulldog (Dog) | 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 | OMIA:002198-9615 | dog | Giant Schnauzer (Dog) | 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 | OMIA:000218-9615 | 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; for limitations on the utility of testing for the published likely causal variant, see the results of Fredholm et al. (2016) and Brown et al. (2018) | 2007 | 17916641 | |||||
| 756 | OMIA:000690-9615 | dog | Beagle (Dog) Brussels Griffon (Dog) Chihuahua (Dog) Dachshund, Miniature Wire-Haired (Dog) French Bulldog (Dog) Mixed Breed (Dog) Newfoundland (Dog) Pembroke Welsh Corgi (Dog) | 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 | Additional breeds based on PMID: 34357061 | ||||||
| 563 | OMIA:001980-9615 | dog | American Bulldog (Dog) American Bully (Dog) | Ichthyosis, NIPAL4-related | NIPAL4 | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 4 | g.52737379del | c.744delC | p.(I249*) | 2017 | 28122049 | ||||
| 622 | OMIA:000938-9615 | dog | Weimaraner (Dog) | 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 | OMIA:002206-9615 | dog | Alaskan Malamute (Dog) | 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 | OMIA:001455-9615 | dog | Dachshund, Miniature Wire-Haired (Dog) Dachshund, Standard Wire-Haired (Dog) | 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 | OMIA:002254-9615 | dog | Mixed Breed (Dog) | 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 | OMIA:002296-9615 | dog | Yorkshire Terrier (Dog) | XY difference 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 | OMIA:002117-9615 | dog | Labrador Retriever (Dog) | 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 | OMIA:002117-9615 | dog | Chihuahua (Dog) | 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 | OMIA:002117-9615 | dog | Chihuahua (Dog) | 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 | |||
| 1686 | OMIA:002117-9615 | dog | Appenzeller Sennenhund (Dog) | Verrucous epidermal keratinocytic nevi | NSDHL | deletion, gross (>20) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | X | UU_Cfam_GSD_1.0; large heterozygous deletion of at least 120 kb at ChrX:121.96-122.08 Mb; a more complex structural rearrangement is possible | 2024 | 38659285 | ||||||
| 846 | OMIA:002130-9615 | dog | German Spitz (Dog) | 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 | OMIA:001564-9615 | dog | Greater Swiss Mountain Dog (Dog) | 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 | OMIA:002031-9615 | dog | Lundehund (Dog) | 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 | |||
| 583 | OMIA:001575-9615 | dog | Gordon Setter (Dog) Irish Setter (Dog) Old Danish Pointing Dog (Dog) Polish Lowland Sheepdog (Dog) Polish Tatra Sheepdog (Dog) Poodle, Miniature (Dog) Poodle, Standard (Dog) Tibetan Terrier (Dog) | Rod-cone dysplasia 4 | PCARE | 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 | ||
| 1712 | OMIA:002868-9615 | dog | Shetland Sheepdog (Dog) | Paroxysmal exercise-induced dyskinesia | PCK2 | missense | Naturally occurring variant | unknown | CanFam3.1 | 8 | NC_006590.3:g.4107413G>A | XM_537379.6:c.1658G>A | XP_537379.2:p.(R553Q) | Nessler et al. (2020) concluded "... that the PCK2:p.Arg553Gln missense variant should be considered and further evaluated as potential candidate causal variant for this phenotype." | 2020 | 32660061 | |||
| 1515 | OMIA:002606-9615 | dog | Vizsla (Dog) | skeletal dysplasia 3 | PCYT1A | missense | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 33 | g.30067814A>G | c.673T>C | p.Y225H | XM_038583131.1; XP_038439059.1 | 2022 | 36553621 | |||
| 1662 | OMIA:002728-9615 | dog | Saarloos Wolfhond (Dog) | PCYT2 deficiency | PCYT2 | missense | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 9 | g.1207490A>G | c.4A>G | p.(I2V) | XM_038546296.1; XP_038402224.1 | 2024 | 38277988 | |||
| 475 | OMIA:001314-9615 | dog | Cardigan Welsh Corgi (Dog) Chinese Crested (Dog) Pomeranian (Dog) | 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); variant initially identified in Cardigan Welsh Corgi and later reported in additional breeds: PMID:27525650 | 1999 | 10393029 | Genomic coordinates in CanFam3.1 provided by Robert Kuhn | ||
| 582 | OMIA:001669-9615 | dog | Sloughi (Dog) | 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 | OMIA:000882-9615 | dog | Irish Setter (Dog) | 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 | OMIA:001674-9615 | dog | American Staffordshire Terrier (Dog) | 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 | OMIA:002282-9615 | dog | Spanish Water Dog (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 | OMIA:001406-9615 | dog | Clumber Spaniel (Dog) Sussex Spaniel (Dog) | 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 | OMIA:000421-9615 | dog | American Cocker Spaniel (Dog) English Springer Spaniel (Dog) Whippet (Dog) | 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 | OMIA:000421-9615 | dog | Deutscher Wachtelhund (Dog) | 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 | OMIA:002084-9615 | dog | Soft Coated Wheaten Terrier (Dog) | 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 | OMIA:002324-9615 | dog | Parson Russell Terrier (Dog) | 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 | OMIA:000807-9615 | dog | Bull Terrier (Dog) | Polycystic kidney disease | PKD1 | missense | Naturally occurring variant | yes | CanFam3.1 | 6 | g.38856816G>A | c.9559G>A | p.(E3187K) | rs397509460 | 2011 | 21818326 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
| 1585 | OMIA:000807-9615 | dog | Lagotto Romagnolo (Dog) | Polycystic kidney disease | PKD1 | nonsense (stop-gain) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 6 | g.39295382G>T | c.7195G>T | p.(E2399*) | NM_001006650.1; NP_001006651.1 | 2023 | 37372390 | |||
| 897 | OMIA:000844-9615 | dog | Basenji (Dog) | 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 | OMIA:000844-9615 | dog | Labrador Retriever (Dog) | 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 | OMIA:000844-9615 | dog | Pug (Dog) | 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 | OMIA:000844-9615 | dog | Beagle (Dog) | 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 | OMIA:000844-9615 | dog | West Highland White Terrier (Dog) | 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 | OMIA:001864-9615 | dog | Chesapeake Bay Retriever (Dog) Golden Retriever (Dog) | 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 | OMIA:002105-9615 | dog | Papillon (Dog) | 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 | OMIA:002080-9615 | dog | Eurasier (Dog) | 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 | OMIA:002020-9615 | dog | Scottish Terrier (Dog) | 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 | OMIA:002020-9615 | dog | Maltese (Dog) | 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 | OMIA:002195-9615 | dog | Welsh Springer Spaniel (Dog) | 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 | OMIA:000770-9615 | dog | Springer Spaniel (Dog) | 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 | OMIA:000211-9615 | 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 | OMIA:000211-9615 | 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 | OMIA:000211-9615 | 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 | OMIA:000211-9615 | 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 | OMIA:000211-9615 | 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 | OMIA:000211-9615 | 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 | OMIA:001588-9615 | dog | Golden Retriever (Dog) | 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 | |||
| 1470 | OMIA:000827-9615 | dog | Australian Shepherd (Dog) | hereditary ataxia | PNPLA8 | duplication | Naturally occurring variant | yes | CanFam3.1 | 18 | g.12143242_12143243dup | c.1169_1170dup | p.(H391Ffs*4) | XM_005630935.2; XP_005630992.1 | 2022 | 35864734 | |||
| 809 | OMIA:001258-9615 | dog | Flat-Coated Retriever (Dog) Labrador Retriever (Dog) | Obesity | POMC | deletion, small (<=20) | Naturally occurring variant | yes | CanFam3.1 | 17 | g.19431807_19431821del | c.561_575del | p.(E188fs) | XM_844370.3; variant is associated with body weight | 2016 | 27157046 | |||
| 1291 | OMIA:002315-9615 | dog | Karelian Bear Dog (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 | OMIA:001504-9615 | dog | Italian Cane Corso (Dog) | Neuronal ceroid lipofuscinosis, 1 | PPT1 | splicing | Naturally occurring variant | yes | CanFam3.1 | 15 | g.2860424G>A | c.124+1G>A | 2017 | 28008682 | |||||
| 1068 | OMIA:001311-9615 | dog | Miniature Schnauzer (Dog) | Photoreceptor dysplasia | PPT1 | PPT1^dci | complex rearrangement | Naturally occurring variant | yes | CanFam3.1 | 15 | g.2874661_2875048con2877563_2877607inv | 2019 | 30541930 | |||||
| 579 | OMIA:001504-9615 | dog | Dachshund (Dog) | 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 | OMIA:001298-9615 | dog | American Cocker Spaniel (Dog) Australian Cattle Dog (Dog) Australian Shepherd (Dog) Australian Stumpy Tail Cattle Dog (Dog) Chesapeake Bay Retriever (Dog) Chihuahua (Dog) Chinese Crested (Dog) English Cocker Spaniel (Dog) Entlebucher Mountain Dog (Dog) Finnish Lapphund (Dog) Golden Retriever (Dog) Karelian Bear Dog (Dog) Kuvasz (Dog) Labrador Retriever (Dog) Lapponian Herder (Dog) Norwegian Elkhound (Dog) Nova Scotia Duck Tolling Retriever (Dog) Poodle, Miniature (Dog) Poodle, Toy (Dog) Portuguese Podengo (Dog) Portuguese Water Dog (Dog) Spanish Water Dog (Dog) Swedish Lapphund (Dog) Swedish White Elkhound (Dog) Yorkshire Terrier (Dog) | Progressive rod-cone degeneration | PRCD | missense | Naturally occurring variant | yes | CanFam3.1 | 9 | g.4188663C>T | c.5G>A | p.(C2Y) | ENSCAFT00845030294.1; ENSCAFP00845023755.1; ROS_Cfam_1.0:g.4864649C>T; Portuguese Podengo and Swedish White Elkhound were reported in PMID: 37582787 | rs852451717 | 2006 | 16938425 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |
| 283 | OMIA:000220-9615 | dog | Jack Russell Terrier (Dog) | 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 | OMIA:001485-9615 | dog | Dogo Argentino (Dog) | 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 | OMIA:001454-9615 | dog | Great Dane (Dog) | 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 | OMIA:001515-9615 | dog | Great Dane (Dog) | Colorectal hamartomatous polyposis and ganglioneuromatosis | PTEN | insertion, gross (>20) | Naturally occurring variant | yes | 26 | "Duplication of PTEN" | 2011 | 20952721 | |||||||
| 988 | OMIA:002196-9615 | dog | Doberman Pinscher (Dog) | 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 | OMIA:001913-9615 | dog | Gordon Setter (Dog) Old English Sheepdog (Dog) | 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 | OMIA:001970-9615 | dog | Alaskan Husky (Dog) | 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 | OMIA:001970-9615 | dog | Black Russian Terrier (Dog) Rottweiler (Dog) | 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 | OMIA:001574-9615 | dog | Frisian Water Dog (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 | |||
| 1613 | OMIA:002757-9615 | dog | Belgian Shepherd Dog (Dog) | Ataxia, cerebellar, RALGAPA1-related | RALGAPA1 | deletion, gross (>20) | Naturally occurring variant | unknown | UU_Cfam_GSD_1.0 | 8 | g.14468376_14473136del | c.6080-2893_6944+1003del | p.(V2027Qfs*7) | XM_038544497.1; XP_038400425.1; published as g.14,468,376_14,473,136del4761 | 2023 | 37628572 | |||
| 1138 | OMIA:002222-9615 | dog | Miniature Bull Terrier (Dog) | 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 | OMIA:002433-9615 | dog | American Eskimo Dog (Dog) | 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 | OMIA:002433-9615 | dog | Basset Hound (Dog) | 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 | OMIA:002433-9615 | dog | Landseer (Dog) | 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 | OMIA:002365-9615 | dog | Giant Schnauzer (Dog) Schnauzer, Standard (Dog) | 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 | OMIA:002151-9615 | dog | Irish Soft Coated Wheaten Terrier (Dog) | 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 | OMIA:001260-9615 | dog | Collie (Dog) | 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 | |||||||
| 1580 | OMIA:001867-9615 | dog | White Swiss Shepherd Dog (Dog) | Lissenecephaly and cerebellar hypoplasia | RELN | deletion, small (<=20) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 18 | g.16909944del | c.2839del | p.(V947*) | XM_038562771.1; XP_038418699.1; reported as g.16909942TG>T - information in this table has been updated to reflect HGVS nomenclature. | 2023 | 37334487 | |||
| 1522 | OMIA:002609-9615 | dog | Labrador Retriever (Dog) | Modifier of copper toxicosis | RETN | missense | Naturally occurring variant | no | CanFam3.1 | 20 | g.52434480C>T | c.19C>T | p.(L7F) | rs852470997 | 2020 | 33142854 | |||
| 29 | OMIA:001346-9615 | dog | English Mastiff (Dog) | 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 | |||
| 1726 | OMIA:002876-9615 | dog | Miniature American Shepherd (Dog) | Neuroaxonal dystrophy, RNF170-related | RNF170 | deletion, small (<=20) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 16 | NC_049237.1:g.23653872del | XM_038559916.1:c.367del | XP_038415844.1:p.(A123Qfs*11) | 2024 | 39177409 | ||||
| 468 | OMIA:001222-9615 | dog | Briard (Dog) | 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 | OMIA:000831-9615 | dog | Weimaraner (Dog) | 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 | OMIA:001518-9615 | dog | Mixed Breed (Dog) | 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 | OMIA:000831-9615 | dog | Samoyed (Dog) Siberian Husky (Dog) | 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 | OMIA:001432-9615 | dog | Dachshund, Miniature Long-Haired (Dog) | 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 | OMIA:001531-9615 | dog | Furnishings (moustache and eyebrows) | RSPO2 | insertion, gross (>20) | Naturally occurring variant | no | 13 | a 167bp insertion "within the 3'UTR at position 11,634,766", which leads to a threefold increase in transcription of RSPO2 in muzzle skin of dogs with furnishings | 2009 | 19713490 | ||||||||
| 707 | OMIA:001498-9615 | dog | Portuguese Water Dog (Dog) | Improper coat | RSPO2 | insertion, gross (>20) | Naturally occurring variant | yes | 13 | "167 bp 3' UTR insertion in RSPO2" | 2010 | 20562213 | |||||||
| 54 | OMIA:000621-9615 | dog | Collie (Dog) Doberman Pinscher (Dog) German Shepherd Dog (Dog) Labrador Retriever (Dog) | 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 | |||
| 1627 | OMIA:002780-9615 | dog | Great Pyrenees (Dog) | Ataxia, spastic, SACS-related | SACS | delins, small (<=20) | Naturally occurring variant | yes | ENSCAFT00030020331.1 | 25 | c.12731_12734del | p.(V4244Afs*32) | Published as ENSCAFT00030020331.1:c.12731_12734delTTAG - CanFam3.1 and CanFam4 are annotated incorrectly for this gene | 2023 | 37758910 | ||||
| 359 | OMIA:001876-9615 | dog | Basenji (Dog) | 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 | OMIA:002284-9615 | dog | Miniature Schnauzer (Dog) | 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 | OMIA:002016-9615 | dog | Wire Fox Terrier (Dog) | 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 | OMIA:002194-9615 | dog | Alpine Dachsbracke (Dog) | Ataxia, spinocerebellar, SCN8A-related | SCN8A | missense | Naturally occurring variant | yes | CanFam3.1 | 27 | g.3179029C>A | c.4898G>T | p.(G1633V) | 2019 | 31083464 | ||||
| 1526 | OMIA:002616-9615 | dog | Mixed Breed (Dog) | Congenital insensitivity to pain | SCN9A | missense | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 36 | g.11652662G>A | c.2761C>T | p.(R921C) | XM_038584713.1; XP_038440641.1 | 2023 | 36630088 | |||
| 1540 | OMIA:002659-9615 | dog | Chihuahua (Dog) | Ichthyosis, non-epidermolytic | SDR9C7 | missense | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 10 | g.1471341G>A | c.454C>T | p.(R152W) | XM_038549505.1; XP_038405433.1 | 2023 | 36967672 | |||
| 28 | OMIA:001692-9615 | dog | Finnish Hound (Dog) | 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 | OMIA:002367-9615 | dog | Belgian Shepherd Dog (Dog) | 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 | ||||
| 1581 | OMIA:001468-9615 | dog | Kerry Blue Terrier (Dog) | Multiple system degeneration | SERAC1 | nonsense (stop-gain) | Naturally occurring variant | yes | 1 | c.1536G>A | p.(Trp512*) | XM_038654522.1; published in conference proceedings, coordinates in this table as reported by Stee et al. 2023 (PMID:37341581) | 2013 | Reference not in PubMed; see OMIA 001468-9615 for reference details | |||||
| 1582 | OMIA:001468-9615 | dog | Chinese Crested (Dog) | Multiple system degeneration | SERAC1 | splicing | Naturally occurring variant | unknown | 1 | c.182+1_182+4del | XM_038654522.1; published in conference proceedings, coordinates in this table as reported by Stee et al. 2023 (PMID:37341581) | 2013 | Reference not in PubMed; see OMIA 001468-9615 for reference details | ||||||
| 25 | OMIA:001483-9615 | dog | Dachshund (Dog) | 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 | OMIA:002305-9615 | dog | Dachshund, Miniature (Dog) | 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 | OMIA:002122-9615 | dog | Boston Terrier (Dog) | 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 | OMIA:002122-9615 | dog | Boston Terrier (Dog) | 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 | |||||
| 1612 | OMIA:002122-9615 | dog | Lagotto Romagnolo (Dog) | Limb-girdle muscular dystrophy, recessive | SGCD | missense | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 4 | g.54154870A>G | c.725T>C | p.(L242P) | XM_038534930.1; XP_038390858.1, variant detected in a single dog | 2023 | 37628692 | |||
| 1063 | OMIA:001279-9615 | dog | Scottish Deerhound (Dog) | 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 | OMIA:001279-9615 | dog | American Hairless Terrier (Dog) | 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 | OMIA:001309-9615 | dog | 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 | OMIA:001309-9615 | dog | Dachshund (Dog) | 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. | ||
| 1593 | OMIA:002740-9615 | dog | Golden Retriever (Dog) | Polyneuropathy, hypomyelinating, SH | SH3TC2 | nonsense (stop-gain) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 4 | g.60798310C>T | c.1924C>T | p.(R642*) | XM_038535081.1; XP_038391009.1; reported in one affected dog with coordinates relating to a different transcript as XM_038568229.1:c.1479G>A | 2023 | 37400349 | |||
| 1444 | OMIA:000810-9615 | dog | Beagle (Dog) Belgian Shepherd Dog, Malinois (Dog) Cocker Spaniel (Dog) Lundehund (Dog) Poodle, Standard (Dog) Rottweiler (Dog) Schnauzer, Standard (Dog) Shetland Sheepdog (Dog) Shih Tzu (Dog) Yorkshire Terrier (Dog) | 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 | OMIA:000810-9615 | dog | Sapsari (Dog) Tosa (Dog) | 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 | OMIA:002208-9615 | dog | Golden Retriever (Dog) | 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 | OMIA:002279-9615 | dog | Belgian Shepherd Dog, Malinois (Dog) | 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 | OMIA:001400-9615 | dog | Poodle, Miniature (Dog) | 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 | OMIA:001097-9615 | dog | Alaskan Husky (Dog) | 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 | OMIA:001097-9615 | dog | Yorkshire Terrier (Dog) | 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 | OMIA:002294-9615 | dog | Dutch Shepherd (Dog) | Inflammatory myopathy, SLC25A12-related | SLC25A12 | missense | Naturally occurring variant | yes | CanFam3.1 | 36 | g.16219219A>G | c.1046T>C | p.(L349P) | chr36:g.16,219,219A>G; c.1046T>C; p.L349P (Shelton et al., 2019) | 2019 | 31594244 | |||
| 1471 | OMIA:002294-9615 | dog | Nova Scotia Duck Tolling Retriever (Dog) | Cerebellar Degeneration-Myositis Complex | SLC25A12 | missense | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 36 | g.16504064G>A | c.1337C>T | p.(P446L) | XM_038584842.1:c.1337C>T; XP_038440770.1:p.(P446L) | 2022 | 35886006 | |||
| 937 | OMIA:001973-9615 | dog | Great Dane (Dog) | 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 | OMIA:001033-9615 | dog | Dalmatian (Dog) German Hunting Terrier (Dog) Majorca Mastiff (Dog) | Urolithiasis | SLC2A9 | missense | Naturally occurring variant | yes | CanFam3.1 | 3 | g.69456869G>T | c.563G>T | p.(C188F) | NM_001130835.2; NP_001124307.2; variant initially identified in Dalmatians and later reported in Majorca Mastiffs (PMID: 37582787) and German Hunting Terriers (PMID:39173651). | rs1152388406 | 2008 | 18989453 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |
| 1158 | OMIA:002244-9615 | dog | Basset Hound (Dog) | 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 | OMIA:002244-9615 | dog | Cairn Terrier (Dog) Scottish Terrier (Dog) West Highland White Terrier (Dog) | 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 | OMIA:000256-9615 | dog | Labrador Retriever (Dog) | 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 | OMIA:000256-9615 | dog | Newfoundland (Dog) | 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 | OMIA:001879-9615 | dog | Australian Cattle Dog (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. | ||
| 1542 | OMIA:000256-9615 | dog | English Bulldog (Dog) French Bulldog (Dog) | Cystinuria, type I - A | SLC3A1 | haplotype | Naturally occurring variant | yes | CanFam3.1 | 10 | g.[46705989A>G;46735617A>G] | c.[574A>G;2092A>G] | p.[(I192V);(S696G)] | NM_001003109.1; NP_001003109.1 Several studies report an association between the two variants and cystinuria. | 2006 | 16845473 | |||
| 795 | OMIA:001821-9615 | dog | Bull Mastiff (Dog) | 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 | OMIA:001821-9615 | dog | Doberman Pinscher (Dog) | 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 | OMIA:001821-9615 | dog | Lhasa Apso (Dog) Mixed Breed (Dog) Pekingese (Dog) Pomeranian (Dog) | 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 | OMIA:001572-9615 | dog | Golden Retriever (Dog) | 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 | OMIA:002174-9615 | dog | Pekingese (Dog) Shih Tzu (Dog) | 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 | Additonal breed information based on PMID:36848397. | |||
| 638 | OMIA:001594-9615 | dog | Irish Wolfhound (Dog) | 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 | OMIA:001594-9615 | dog | Spanish Greyhound (Dog) | 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. | ||
| 1534 | OMIA:002645-9615 | dog | English Cocker Spaniel (Dog) English Springer Spaniel (Dog) | Paradoxical pseudomyotonia | SLC7A10 | nonsense (stop-gain) | Naturally occurring variant | yes | ROS_Cfam_1.0 | 1 | NC_051805.1:g.119506784C>A | XM_038657580.1:c.126C>A | XP_038513508.1:p.(C42*) | 2023 | 36869603 | ||||
| 85 | OMIA:001880-9615 | dog | Miniature Pinscher (Dog) | 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 | OMIA:001551-9615 | dog | Brachycephaly | SMOC2 | insertion, gross (>20) | Naturally occurring variant | yes | 1 | "a long interspersed nuclear element (LINE-1) within the SPARC-related modular calcium binding (SMOC2) gene" | 2017 | 28552356 | ||||||||
| 415 | OMIA:002034-9615 | dog | Vizsla (Dog) | Cerebellar cortical degeneration, Hungarian Vizsla | SNX14 | splicing | Naturally occurring variant | yes | CanFam3.1 | 12 | g.45530566C>T | c.26531G>A | 2016 | 27566131 | |||||
| 36 | OMIA:000263-9615 | dog | American Pit Bull Terrier (Dog) American Water Spaniel (Dog) Australian Shepherd (Dog) Bernese Mountain Dog (Dog) Border Collie (Dog) Borzoi (Dog) Boxer (Dog) Cavalier King Charles Spaniel (Dog) Chesapeake Bay Retriever (Dog) Collie (Dog) Collie Rough (Dog) Czechoslovakian Wolfdog (Dog) English Springer Spaniel (Dog) French Bulldog (Dog) German Shepherd Dog (Dog) Great Pyrenees (Dog) Hovawart (Dog) Irish Setter (Dog) Pembroke Welsh Corgi (Dog) Poodle (Dog) Rhodesian Ridgeback (Dog) Romanian Mioritic Shepherd Dog (Dog) Rottweiler (Dog) Saint Bernard (Dog) Shetland Sheepdog (Dog) Shiloh Shepherd (Dog) Soft Coated Wheaten Terrier (Dog) Tibetan Terrier (Dog) White Swiss Shepherd Dog (Dog) Wire Fox Terrier (Dog) | 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, additional breeds added based on PMID:38081509, PMID:39335301 and PMID: 37106965. PMID: 24524809: The A allele was detected in at least 1 representative from 124 breeds (not all listed in this table). | rs853026434 | 2009 | 19188595 | ||
| 1302 | OMIA:002322-9615 | dog | Dutch Tulip Hound (Dog) | 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 | OMIA:000263-9615 | dog | Bernese Mountain Dog (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 | OMIA:001318-9615 | dog | Mixed Breed (Dog) | 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 | OMIA:002092-9615 | dog | Beagle (Dog) | 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 | |||
| 1527 | OMIA:002623-9615 | dog | Australian Shepherd (Dog) | Primary ciliary dyskinesia, STK-related | STK36 | splicing | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 37 | g.25167072G>A | c.2868-1G>A | p.(M957Pfs*11) | XM_038585732.1; XP_038441660.1 | 2023 | 36786090 | |||
| 700 | OMIA:001297-9615 | dog | Norwegian Elkhound (Dog) | 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 | OMIA:001373-9615 | dog | Greyhound (Dog) | 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 | OMIA:001373-9615 | dog | Labrador Retriever (Dog) | 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 | 2013 | 24098150 | ||
| 79 | OMIA:000975-9615 | dog | Pembroke Welsh Corgi (Dog) | Bob tail | TBXT | 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 | 2001 | 11252170 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |
| 95 | OMIA:001975-9615 | dog | Spanish Water Dog (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 | OMIA:000546-9615 | dog | Jack Russell Terrier (Dog) | Ichthyosis | TGM1 | insertion, gross (>20) | Naturally occurring variant | yes | 8 | a LINE-1 insertion in the TGM1 gene | 2009 | 19438474 | |||||||
| 1543 | OMIA:002663-9615 | dog | Weimaraner (Dog) | Dystonia–ataxia syndrome, paroxysmal | TNR | insertion, small (<=20) | Naturally occurring variant | yes | UU_Cfam_GSD_1.0 | 7 | g.23940980dup | c.831dup | p.(N278Qfs*38) | XM_038542431.1; XP_038398359.1; published as g.23940980dupC; c.831dupC | 2023 | 37023257 | |||
| 425 | OMIA:000536-9615 | dog | Spanish Water Dog (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 | OMIA:000536-9615 | dog | Rat Terrier (Dog) Toy Fox Terrier (Dog) | 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 | OMIA:000536-9615 | dog | Tenterfield Terrier (Dog) | 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 | OMIA:000536-9615 | dog | French Bulldog (Dog) | Hypothyroidism | TPO | splicing | Naturally occurring variant | yes | CanFam3.1 | 17 | g.801598T>C | c.2242+2T>C | 2015 | 26478542 | |||||
| 473 | OMIA:001472-9615 | dog | Dachshund (Dog) | 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 | OMIA:002215-9615 | dog | Schnauzer, Standard (Dog) | 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 | OMIA:001984-9615 | dog | Golden Retriever (Dog) | 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 | OMIA:002434-9615 | dog | Cairn Terrier (Dog) Norfolk Terrier (Dog) | 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 | OMIA:002434-9615 | dog | King Charles Spaniel (Dog) | Thrombocytopaenia | TUBB1 | missense | Naturally occurring variant | yes | CanFam3.1 | 24 | g.43766144G>A | c.745G>A | p.(D249N) | XM_022408906.1; XP_022264614.1 | rs1152388419 | 2008 | 18466252 | Sequence information used to identify the genomic location was kindly provided by Mary K Boudreaux. | |
| 1247 | OMIA:000202-9615 | dog | Dachshund (Dog) | 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 | OMIA:001249-9615 | dog | Brown | TYRP1 | b^c | missense | Naturally occurring variant | no | CanFam3.1 | 11 | g.33317810T>A | c.121T>A | p.(C41S) | rs851939320 | 2002 | 12140685 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. Correction to genomic details provided by professor Claire Wade August 2018. Correction to g and c. details provided by Professor Tosso Leeb 11 Feb 2020. | ||
| 1282 | OMIA:001249-9615 | dog | Siberian Husky (Dog) | 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 | OMIA:001249-9615 | dog | Australian Shepherd (Dog) | 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 | 2017 | 28497851 | ||
| 267 | OMIA:001249-9615 | dog | Brown | TYRP1 | b^s | nonsense (stop-gain) | Naturally occurring variant | no | CanFam3.1 | 11 | g.33326685C>T | c.991C>T | p.(Gln331*) | rs850566878 | 2002 | 12140685 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
| 1113 | OMIA:001249-9615 | dog | Lancashire Heeler (Dog) | Liver | TYRP1 | b^e | missense | Naturally occurring variant | no | CanFam3.1 | 11 | g.33326719T>G | c.1025T>G | p.(F342C) | 2019 | 31468558 | |||
| 796 | OMIA:001249-9615 | dog | Brown | TYRP1 | b^d | deletion, small (<=20) | Naturally occurring variant | no | CanFam3.1 | 11 | g.33326727_33326729del | c.1033_1035del | p.(P345del) | rs851422848 | 2002 | 12140685 | |||
| 1157 | OMIA:001609-9615 | dog | German Longhaired Pointer (Dog) German Shorthaired Pointer (Dog) Vizsla (Dog) | 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 | OMIA:001216-9615 | dog | Australian Cattle Dog (Dog) Dalmatian (Dog) English Cocker Spaniel (Dog) German Shorthaired Pointer (Dog) Wirehaired Pointing Griffon (Dog) | 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 | OMIA:001431-9615 | dog | Pomeranian (Dog) | 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 | OMIA:001947-9615 | dog | Eurasier (Dog) | 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 | ||
| 1512 | OMIA:002602-9615 | dog | Working Kelpie (Dog) | Cerebellar abiotrophy | VMP1 | missense | Naturally occurring variant | unknown | UU_Cfam_GSD_1.0 | 9 | g.34218228C>A | p.(P160Q) | 2022 | 36292596 | |||||
| 995 | OMIA:002152-9615 | dog | Rottweiler (Dog) | 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 | 2018 | 29945969 | ||
| 478 | OMIA:001428-9615 | dog | Border Collie (Dog) | 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 | OMIA:001058-9615 | dog | Scottish Terrier (Dog) | 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 | OMIA:001058-9615 | dog | Shetland Sheepdog (Dog) | 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 | OMIA:001339-9615 | dog | Chinese Crested (Dog) German Shorthaired Pointer (Dog) German Wirehaired Pointer (Dog) | 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 | OMIA:001058-9615 | dog | Nederlandse Kooikerhondje (Dog) | 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 | OMIA:001339-9615 | dog | Boykin Spaniel (Dog) German Shorthaired Pointer (Dog) German Spitz (Dog) German Wirehaired Pointer (Dog) | Von Willebrand disease II | VWF | missense | Naturally occurring variant | yes | CanFam3.1 | 27 | g.38924099A>G | c.4937A>G | p.(N1646S) | variant initially identified in German Shorthaired Pointer and German Wirehaired Pointer and later reported in additional breeds: PMID: 37582787 | rs852456570 | 2004 | 15133170 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |
| 401 | OMIA:001057-9615 | dog | Barbet (Dog) Bernese Mountain Dog (Dog) Brazilian Terrier (Dog) Doberman Pinscher (Dog) Dutch Shepherd (Dog) Kromfohrlander (Dog) Manchester Terrier (Dog) | 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 | OMIA:002445-9615 | dog | Mixed Breed (Dog) | 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 | OMIA:002256-9615 | dog | Belgian Shepherd Dog (Dog) | 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 | 558 |
| Variants with genomic location | 513 (91.9% ) |
| Variants in a variant database, i.e. with rs ID | 63 (11.3%) |
| Variant Type | Count | Percent |
|---|---|---|
| complex rearrangement | 3 | 0.5% |
| deletion, gross (>20) | 37 | 6.6% |
| deletion, small (<=20) | 109 | 19.5% |
| delins, gross (>20) | 4 | 0.7% |
| delins, small (<=20) | 15 | 2.7% |
| duplication | 13 | 2.3% |
| extension (stop-lost) | 1 | 0.2% |
| haplotype | 6 | 1.1% |
| insertion, gross (>20) | 43 | 7.7% |
| insertion, small (<=20) | 40 | 7.2% |
| inversion | 4 | 0.7% |
| missense | 166 | 29.7% |
| nonsense (stop-gain) | 57 | 10.2% |
| not known | 1 | 0.2% |
| reference sequence allele | 1 | 0.2% |
| regulatory | 8 | 1.4% |
| repeat variation | 4 | 0.7% |
| splicing | 45 | 8.1% |
| 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 | 0.7% |
| 1995 | 1 | 0.2% |
| 1996 | 4 | 0.7% |
| 1997 | 2 | 0.4% |
| 1998 | 5 | 0.9% |
| 1999 | 9 | 1.6% |
| 2000 | 9 | 1.6% |
| 2001 | 6 | 1.1% |
| 2002 | 12 | 2.2% |
| 2003 | 7 | 1.3% |
| 2004 | 3 | 0.5% |
| 2005 | 11 | 2.0% |
| 2006 | 12 | 2.2% |
| 2007 | 19 | 3.4% |
| 2008 | 8 | 1.4% |
| 2009 | 11 | 2.0% |
| 2010 | 20 | 3.6% |
| 2011 | 27 | 4.8% |
| 2012 | 21 | 3.8% |
| 2013 | 32 | 5.7% |
| 2014 | 17 | 3.0% |
| 2015 | 28 | 5.0% |
| 2016 | 25 | 4.5% |
| 2017 | 30 | 5.4% |
| 2018 | 32 | 5.7% |
| 2019 | 38 | 6.8% |
| 2020 | 42 | 7.5% |
| 2021 | 34 | 6.1% |
| 2022 | 24 | 4.3% |
| 2023 | 34 | 6.1% |
| 2024 | 26 | 4.7% |