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Link to this search: https://omia.org/results/?gb_species_id=9615&result_type=variant&search_type=advanced

537 variant records found

[show instead phene records]

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

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

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

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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

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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
62	OMIA:000698-9615	dog	Miniature Schnauzer (Dog)	Myotonia	CLCN1		missense	Naturally occurring variant	yes	CanFam3.1	16	g.6366383G>A	c.803C>T	p.(T268M)			1999	10452529	Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
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		1999	10458611
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
53	OMIA:000595-9615	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
637	OMIA:000438-9615	dog	obsolete 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)
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)
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
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
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.
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
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
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
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
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
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
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
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
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
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
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	g.13726596_13726599del	c.228_231del	p.(D77Afs*16)	NM_001003215.2; NP_001003215.2		2001	11692082	Variant information gleaned from or confirmed by Donner et al. (2016) PLoS One 11:e0161005
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]
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
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
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
481	OMIA:001518-9615	dog	obsolete Mongrel (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
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
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
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.
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
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
462	OMIA:000402-9615	dog	obsolete Shiba (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.
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
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.
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)			2003	12874109	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
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)		2003	12897784
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
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)
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
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
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
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
756	OMIA:000690-9615	dog	Beagle (Dog) Chihuahua (Dog) Dachshund, Miniature Wire-Haired (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
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
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
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
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
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
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
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.
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
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
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
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
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
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
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
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
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) obsolete 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
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) 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
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
40	OMIA:000361-9615	dog	Airedale Terrier (Dog) Alaskan Klee Kai (Dog) American Foxhound (Dog) Beagle (Dog) Finnish Hound (Dog) German Wirehaired Pointer (Dog) Giant Schnauzer (Dog) Irish Water Spaniel (Dog) Japanese Spitz (Dog) Miniature Schnauzer (Dog) obsolete Alaskan Sled Dog (Dog) Papillon (Dog) Scottish Deerhound (Dog) Sealyham Terrier (Dog) Welsh Springer Spaniel (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
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
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
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
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
360	OMIA:000031-9615	dog	American Staffordshire Terrier (Dog) Beagle (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
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.
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
609	OMIA:000698-9615	dog	Australian Cattle Dog (Dog) Border Collie (Dog)	Myotonia	CLCN1		insertion, small (<=20)	Naturally occurring variant	yes	CanFam3.1	16	g.6344748_6344749insT	c.2647_2648insA	p.(R883Qfs*18)	NM_001003124.2; NP_001003124.1; published as c.2665insA; p.(R889fs); coordinates in the table have been updated to a recent reference genome and / or transcript		2007	17552451
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.
585	OMIA:002433-9615	dog	obsolete Eskimo Spitz (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
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
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.
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
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 (Î”G23)"	rs851502010	2007	17947548	Genomic location provided by Professor Claire Wade August 2018. Allele designations taken from Ollivier et al. (2013)
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)
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
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		2008	18466252	Sequence information used to identify the genomic location was kindly provided by Mary K Boudreaux.
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
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]
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
39	OMIA:001466-9615	dog	Chesapeake Bay Retriever (Dog) Curly Coated Retriever (Dog) Labrador Retriever (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
83	OMIA:001033-9615	dog	Dalmatian (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	rs1152388406	2008	18989453	Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
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
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
36	OMIA:000263-9615	dog	Belgian Shepherd Dog (Dog) Boxer (Dog) Chesapeake Bay Retriever (Dog) German Shepherd Dog (Dog) Great Pyrenees (Dog) Hovawart (Dog) Pembroke Welsh Corgi (Dog) Rhodesian Ridgeback (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, PMID:38081509 is reference for Pyrenean Mountain dog		2009	19188595
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
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
1524	OMIA:001467-9615	dog	Golden Retriever (Dog)	Neuropathy, sensory ataxic	MTTY		deletion, small (<=20)	Naturally occurring variant	yes		M	m.5304del					2009	19492087
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
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
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
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
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
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.
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
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
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
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.
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
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
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.
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
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
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
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 5â€™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
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
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
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
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
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 - allele is reflected by the reference sequence CanFam3.1 and NM_001003215.2 as reference: g.13737172_13737174; c.73_75, p.N25		2010	21113104
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.
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).
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
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
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
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
68	OMIA:001443-9615	dog	Australian Shepherd (Dog)	Neuronal ceroid lipofuscinosis, 6	CLN6		missense	Naturally occurring variant	yes	CanFam3.1	30	g.32247875A>G	c.829T>C	p.(W277R)	ROS_Cfam_1.0:g.32443458A>G ENSCAFT00845033654.1:c.829T>C ENSCAFP00845026347.1:p.Trp277Arg	rs1152388420	2011	21234413	Variant coordinates obtained from or confirmed by EBI's Variant Effect Predictor (VEP) tool
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.
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
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
739	OMIA:000809-9615	dog		Polycythemia	JAK2		delins, small (<=20)	Naturally occurring variant	yes	CanFam3.1	1	g.93416506_93416510delinsTTCCT	c.1849_1853delinsTTCCT	p.(V617_C618delinsFL)	XM_022421838.1; XP_022277546.1; published as a three-base change in codons 617 and 618 of JAK2 giving rise to V617F and C618L, SOMATIC MUTATION/MOSAICISM		2011	21320566
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
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
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
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
442	OMIA:001402-9615	dog	Border Collie (Dog)	Adverse reaction to certain drugs	ABCB1		regulatory	Naturally occurring variant	no	CanFam3.1	14	g.13742402A>C			published as Canfam2 chr14:16692274T>G, c.-6-180T>G, possible regulatory variant associated with resistance to phenobarbital treatment in epileptic Border Collies	rs852787132	2011	21488961	Genomic coordinates in CanFam3.1 and EVA ID provided by Zoe Shmidt and Robert Kuhn.
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
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.
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
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.
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
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
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
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
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
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	g.49252491_49252493dup	c.545_547dup	p.(N182dup)	NM_001197187.1; NP_001184116.1; published as c.545_547dupACA		2011	22132174	Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn.
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
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
536	OMIA:001081-9615	dog	Cocker Spaniel (Dog)	Muscular dystrophy, Duchenne type	DMD		deletion, small (<=20)	Naturally occurring variant	yes		X				deletion of four nucleotides in exon 65, with a reading frame shift predicting a premature stop codon at the site of the deletion		2012	22218699
681	OMIA:001081-9615	dog	Tibetan Terrier (Dog)	Muscular dystrophy, Duchenne type	DMD		deletion, gross (>20)	Naturally occurring variant	yes		X				"a large deletion of exons 8-29"		2012	22218699
729	OMIA:001081-9615	dog	Labrador Retriever (Dog)	Muscular dystrophy, Duchenne type	DMD		insertion, gross (>20)	Naturally occurring variant	yes		X				"184 nucleotide [pseudoexon] insertion between exon 19 and exon 20, which results in a premature stop codon at the next codon downstream of the insertion"		2012	22218699 Reference not in PubMed; see OMIA 001081-9615 for reference details
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
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.
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 byÂ Karthik Raj and Urs Giger
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
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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.
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
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
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
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
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
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
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
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
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.
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
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.
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.
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		2013	24015210
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.(405Rext25)			2013	24019744	Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
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
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
336	OMIA:001886-9615	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		2013	24086591	Genomic coordinates in CanFam3.1 provided by Robert Kuhn
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
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
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
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
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
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
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
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
925	OMIA:001918-9615	dog	Tibetan Spaniel (Dog) Tibetan Terrier (Dog)	Progressive retinal atrophy, type 3, FAM161A-related	FAM161A		insertion, gross (>20)	Naturally occurring variant	yes	CanFam3.1	10	g.61822372_61822373insN[(230)]			A ~230bp insertion containing a 132bp short interspersed nuclear element (SINE), near the splice acceptor site of exon 5 CanFam2.0 coordinate published as g.64974130		2014	24705771
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.
89	OMIA:001327-9615	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
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.
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
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.
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
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
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
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
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
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
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
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.
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
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
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.
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
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
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
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
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.
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
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.
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
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
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
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.
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
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	g.31705136_31705137insC	c.636_637insC	p.(G212Rfs*274)	ENSCAFT00000083466.1; ENSCAFP00000057633.1; published as c.633_634insC, coordinates in the table updated in accordance to HGVS 3'-rule		2015	26429099
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
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
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
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
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.
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
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
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
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
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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."		2016	27724896
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
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
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
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
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
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.
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
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
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
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
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
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
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
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.
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
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
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
804	OMIA:000685-9615	dog	Heideterrier (Dog)	Myasthenic syndrome, congenital, due to CHRNE	CHRNE		insertion, small (<=20)	Naturally occurring variant	yes	CanFam3.1	5	g.31707450_31707451insG	c.1436_1437insG	p.(S479Rfs*14)	XM_014113502.1; XP_013968977.1		2017	28508416
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
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
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
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
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
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
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
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 5â€™UTR, 900 bp 5â€™ ORF1, a 49 bp intergenic spacer, a 3,828 bp 3â€™ ORF2, a 3â€™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 byÂ Sally Ricketts
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
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
850	OMIA:002131-9615	dog	Mixed Breed (Dog)	Methemoglobinaemia, CYB5R3-related	CYB5R3		missense	Naturally occurring variant	yes	CanFam3.1	10	g.22832963G>A	c.214G>A	p.(G72S)			2017	28963729	Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
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
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
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
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
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
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 byÂ Karthik Raj and Urs Giger, and confirmed by Ensembl's VEP
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
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
967	OMIA:002131-9615	dog	Pomeranian (Dog)	Methemoglobinaemia, CYB5R3-related	CYB5R3		missense	Naturally occurring variant	yes	CanFam3.1	10	g.22836951A>C	c.580A>C	p.(I194L)	NM_001048084.1, NP_001041549.1		2018	29356095	Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn.
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
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
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
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
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
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
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
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
1037	OMIA:002174-9615	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
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
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
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.
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
1041	OMIA:000698-9615	dog	Labrador Retriever (Dog)	Myotonia	CLCN1		nonsense (stop-gain)	Naturally occurring variant	yes	CanFam3.1	16	g.6348929T>A	c.2275A>T	p.(R759X)	Quitt et al. (2018): "Chr16:6348929 T A CLCN1 ENSCAFG00000003619.3 stopgain"		2018	29934119
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
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
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
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
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)
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
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
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
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.
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
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
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
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
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
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.
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
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.
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.F1393Lfs1395)." Variant information changed to reflect HGVS nomenclature		2019	30889179
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.
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
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
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
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
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
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
1081	OMIA:002197-9615	dog		Coat colour, white or cream	MFSD12		missense	Naturally occurring variant	no	CanFam3.1	20	g.55850145C>T	c.151C>T	p.(R51C)	ROS_Cfam_1.0:g.34222854T>A ENSCAFT00845015439.1:c.121T>A ENSCAFP00845011991.1:p.Cys41Ser	rs22915955	2019	31117290	The cDNA coordinate kindly provided by Tosso Leeb 190523; alternate cDNA and protein coordinates in verbal description based on EVA ID.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
1157	OMIA:001609-9615	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
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
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
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
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
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
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
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
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
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
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
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
1215	OMIA:002275-9615	dog	French Bulldog (Dog)	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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
1364	OMIA:000698-9615	dog	American Bulldog (Dog)	Myotonia	CLCN1		insertion, small (<=20)	Naturally occurring variant	yes	CanFam3.1	16	g.6369245_6369246insAGAG	c.436_437insCTCT	p.(Y146Sfs*49)	cDNA and protein position based on NM_001003124.2 and NP_001003124.1		2020	33246886
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
1382	OMIA:000201-9615	dog		Dominant yellow	ASIP	DY	reference sequence allele	Naturally occurring variant	no	CanFam3.1	24	CanFam3.1			The reference sequence CanFam3.1 represents the dominant yellow phenotype.		2021	34385618
1386	OMIA:000201-9615	dog		Black saddle	ASIP	BS	delins, gross (>20)	Naturally occurring variant	no	CanFam3.1	24	g.23378062_23379640delins[MT319116.1:424_663]			Likely causal regulatory promoter variant		2021	34385618
1385	OMIA:000201-9615	dog		Black back 3	ASIP	BB3	haplotype	Naturally occurring variant	no	CanFam3.1	24	g.[23353288_23353472del;23354716_23354751A[4];23377890_23378086del;23378320_23378343del;g.23378858_2			Haplotype containing a likely causal regulatory promoter variant		2021	34385618
1380	OMIA:000201-9615	dog		Agouti	ASIP	AG	haplotype	Naturally occurring variant	no	CanFam3.1	24	g.[23353288_23353472del;23354716_23354751A[4];23377890_23378086del;23378320_23378343del]			Haplotype containing a likely causal regulatory promoter variant		2021	34385618
1383	OMIA:000201-9615	dog		Black back 1	ASIP	BB1	haplotype	Naturally occurring variant	no	CanFam3.1	24	g.[23353288_23353472del;23354716_23354751A[4];23378062_23378231delins[MT319115.1:424_674]			Haplotype containing a likely causal regulatory promoter variant		2021	34385618
1384	OMIA:000201-9615	dog		Black back 2	ASIP	BB2	haplotype	Naturally occurring variant	no	CanFam3.1	24	g.[23353288_23353472del;23354716_23354751A[4];23378062_23379640delins[MT319116.1:424_663]]			Haplotype containing a likely causal regulatory promoter variant		2021	34385618
1381	OMIA:000201-9615	dog		Shaded yellow	ASIP	SY	haplotype	Naturally occurring variant	no	CanFam3.1	24	g.[23353288_23353472del;23354716_23354751A[4]]			Haplotype containing a likely causal regulatory promoter variant		2021	34385618
1342	OMIA:002032-9615	dog	Mixed Breed (Dog)	Neuropathy, sensory	FAM134B		missense	Naturally occurring variant	yes	CanFam3.1	4	g.86916562C>T	c.656C>T	p.(P219L)	NM_001314111.1; NP_001301040.1		2021	34387380
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
1437	OMIA:002716-9615	dog	German Shepherd Dog (Dog)	Congenital idiopathic megaesophagus	MCHR2		repeat variation	Naturally occurring variant	yes	CanFam3.1	12				Bell et al. (2022): "Within the first intron of MCHR2, we identified a 33 bp variable number tandem repeat (VNTR) containing a consensus binding sequence for the T-box family of transcription factors. Across dogs and wolves, the major allele includes two copies of the repeat, whereas the predominant alleles in GSDs have one or three copies. The single-copy allele is strongly associated with CIM (P-val = 1.32x10-17), with homozygosity for this allele posing the most significant risk".		2022	35271580
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
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
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
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
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
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
1483	OMIA:002564-9615	dog	Labrador Retriever (Dog)	Congenital dyserythropoietic anemia and polymyopathy	EHBP1L1		nonsense (stop-gain)	Naturally occurring variant	yes	CanFam4	18	g.52128140G>A	c.388C>T	p.(R130*)	XM_038563927.1;		2022	36011338
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
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
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
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
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
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
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
1496	OMIA:002584-9615	dog	Beauceron (Dog)	Deafness, CDH23-related	CDH23		missense	Naturally occurring variant	yes	CanFam 3.1	4	g:22340631C>T	c.700C>T	p.(P234S)	ON462053; XM_022417544.1; XP_022273252.1		2022	36308003	The UU_Cfam_GSD_1.0 genomic variant coordinate is: g.Chr4:23074925C>T
1513	OMIA:000328-9615	dog	Alapaha Blue Blood Bulldog (Dog) obsolete 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
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
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
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
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
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	g.119506784C>A	c.126C>A	p.(C42*)	XM_038657580.1; XP_038513508.1		2023	36869603
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
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
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
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
1570	OMIA:000698-9615	dog	Mixed Breed (Dog)	Myotonia	CLCN1		deletion, gross (>20)	Naturally occurring variant	yes	CanFam3.1	16	g.[6367458_6367478del;6367482del;6367485A>C]	c.[703T>G;706del;710_730del]	p.[(F235V;V236fs)]	NM_001003124.2; NP_001003124.1; 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
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
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
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
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
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
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
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
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
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
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
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
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
1607	OMIA:000578-9615	dog	Mixed Breed (Dog)	Krabbe disease	GALC		missense	Naturally occurring variant	yes	canFam6	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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
1678	OMIA:000698-9615	dog	French Bulldog (Dog)	Myotonia	CLCN1		duplication	Naturally occurring variant	unknown	UU_Cfam_GSD_1.0	16	g.6074128_6074135dup	c.2423_2430dup	p.(F811Lfs*39)	NM_001003124.2; NP_001003124.1; NC_049237.1		2024	38473107
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
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

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Overall Statistics
Total number of variants	537
Variants with genomic location	492 (91.6% )
Variants in a variant database, i.e. with rs ID	56 (10.4%)

Variant Type	Count	Percent
complex rearrangement	3	0.6%
deletion, gross (>20)	36	6.7%
deletion, small (<=20)	103	19.2%
delins, gross (>20)	4	0.7%
delins, small (<=20)	14	2.6%
duplication	10	1.9%
extension (stop-lost)	1	0.2%
haplotype	6	1.1%
insertion, gross (>20)	40	7.4%
insertion, small (<=20)	41	7.6%
inversion	4	0.7%
missense	160	29.8%
nonsense (stop-gain)	56	10.4%
not known	1	0.2%
reference sequence allele	1	0.2%
regulatory	8	1.5%
repeat variation	4	0.7%
splicing	44	8.2%
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	1.7%
2000	9	1.7%
2001	6	1.1%
2002	12	2.2%
2003	7	1.3%
2004	3	0.6%
2005	11	2.0%
2006	12	2.2%
2007	19	3.5%
2008	8	1.5%
2009	11	2.0%
2010	20	3.7%
2011	27	5.0%
2012	21	3.9%
2013	32	6.0%
2014	17	3.2%
2015	28	5.2%
2016	25	4.7%
2017	30	5.6%
2018	32	6.0%
2019	38	7.1%
2020	39	7.3%
2021	34	6.3%
2022	25	4.7%
2023	33	6.1%
2024	8	1.5%

The University of Sydney - OMIA - Online Mendelian Inheritance in Animals

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537 variant records found