Variant classification

AVCG pathogenicity classifications

A citable reference table for variant pathogenicity across Dog, Cat, Horse. Every documented variant carrying a grade under the Animal Variant Classification Guidelines (AVCG; Boeykens et al. 2024), the ACMG/AMP-style framework for single-gene disorders in animals, curated in OMIA, here in one queryable place, each with its species, disease, HGVS, reference genome, and OMIA entry. Versioned: a classification updates as the evidence does.

Framework AVCG Source OMIA Cite How to cite API mcp.sniff.world · CC-BY 4.0

A grade exists only where the evidence does. The absence of one is not a verdict of benign, only that the work has not been done yet, and the AVCG withholds a call as a VUS rather than guess. 142 classified, growing; not a claim of completeness. A grade describes the documented variant's causality, not a prediction for any individual animal.

Pathogenic 91 Likely pathogenic / pathogenic 31 Likely pathogenic 10 Uncertain significance 8 Uncertain / likely benign 1 Likely benign / benign 1

Species

Grade	Species	Disease	Variant (HGVS) · reference	OMIA
Pathogenic	Cat	Cardiomyopathy, hypertrophic, MYBPC3-related, autosomal dominant	XP_019667956.2:p.(R818W) F.catus_Fca126_mat1.0	OMIA:002951
Pathogenic	Cat	Cardiomyopathy, hypertrophic, MYBPC3-related, autosomal recessive	XP_019667956.2:p.(A31P) F.catus_Fca126_mat1.0	OMIA:002952
Pathogenic	Cat	classical Ehlers-Danlos syndrome (cEDS), COL5A1-related	r.spl F.catus_Fca126_mat1.0	OMIA:002165
Pathogenic	Cat	classical Ehlers-Danlos syndrome (cEDS), COL5A1-related	NC_058380.1:g.93561989_93595728del F.catus_Fcat126_mat1.0	OMIA:002165
Pathogenic	Cat	Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related	XP_023109884.2:p.(S235Qfs*3) F.catus_Fca126_mat1.0	OMIA:000328
Pathogenic	Cat	Dihydropyrimidinase deficiency	XP_023103999.2:p.(G435R) F.catus_Fca126_mat1.0	OMIA:001776
Pathogenic	Cat	Epidermolysis bullosa, junctionalis, COL17A1-related	NC_058378.1:g.62124169del F.catus_Fca126_mat1.0	OMIA:002793
Pathogenic	Cat	Factor XII deficiency	NP_001161684.2:p.(G544A) F.catus_Fca126_mat1.0	OMIA:000364
Pathogenic	Cat	Frontonasal dysplasia, ALX1-related	XP_003989139.1:p.(A166_T169del) F.catus_Fca126_mat1.0	OMIA:002717
Pathogenic	Cat	Gangliosidosis, GM2, type II (Sandhoff or variant 0)	r.(spl?) F.catus_Fca126_mat1.0	OMIA:001462
Corroborated 2 independent sources: OMIA curation, Boeykens 2024. The evidence behind the grade: AVCG class Pathogenic ACMG/AMP class Pathogenic In-silico predictions Spliceator: acceptor site identified in wt, but not mutant sequence · SpliceSitePredictions: acceptor site identified in wt; not in mutant Mutant allele frequency 3.17e-5 in 31,576 genotyped Genotypes wt/wt 31,574 · wt/vt 2 · vt/vt 0 Human ortholog OMIM 268800 Per-criteria evidence from the Boeykens et al. 2024 supplements (S5/S9, CC-BY). Corroboration compares the OMIA-curated grade against the independent published grade.
Pathogenic	Cat	Gangliosidosis, GM2, type II (Sandhoff or variant 0)	NP_001009333.2:p.(L14Sfs*82) F.catus_Fca126_mat1.0	OMIA:001462
Pathogenic	Cat	Gangliosidosis, GM2, type II (Sandhoff or variant 0)	NP_001009333.2:p.(F489Lfs*4) F.catus_Fca126_mat1.0	OMIA:001462
Corroborated 2 independent sources: OMIA curation, Boeykens 2024. The evidence behind the grade: AVCG class Pathogenic ACMG/AMP class Pathogenic In-silico predictions MutPredLof: Neutral · MutPredLof: Neutral Mutant allele frequency 0 in 31,577 genotyped Genotypes wt/wt 31,577 · wt/vt 0 · vt/vt 0 Human ortholog OMIM 268800 Per-criteria evidence from the Boeykens et al. 2024 supplements (S5/S9, CC-BY). Corroboration compares the OMIA-curated grade against the independent published grade.
Pathogenic	Cat	Glycogen storage disease II	XP_006940714.4:p.(R600H) F.catus_Fca126_mat1.0	OMIA:000419
Pathogenic	Cat	Glycogen storage disease IV	NC_058376.1:g.34574435_34612034delinsN[334] F.catus_Fca126_mat1.0	OMIA:000420
Pathogenic	Cat	Haemophilia B	NP_001009377.1:p.(R384*) F.catus_Fca126_mat1.0	OMIA:000438
Corroborated 2 independent sources: OMIA curation, Boeykens 2024. The evidence behind the grade: AVCG class Likely pathogenic ACMG/AMP class Likely pathogenic In-silico predictions Panther: possibly damaging · MutPredLof: Neutral Mutant allele frequency 0 in 31,558 genotyped Genotypes wt/wt 31,558 · wt/vt 0 · vt/vt 0 Human ortholog OMIM 306900 Per-criteria evidence from the Boeykens et al. 2024 supplements (S5/S9, CC-BY). Corroboration compares the OMIA-curated grade against the independent published grade.
Pathogenic	Cat	Hypohidrotic ectodermal dysplasia, X-linked, EDA-related	XP_011290083.1:p.(A348T) F.catus_Fca126_mat1.0	OMIA:000543
Pathogenic	Cat	Hypotrichosis, HR-related	NC_058371.1:g.35879114delinsCAG F.catus_Fca126_mat1.0	OMIA:002229
Pathogenic	Cat	Mannosidosis, alpha	NP_001009222.1:p.(Q584Afs) F.catus_Fca126_mat1.0	OMIA:000625
Corroborated 2 independent sources: OMIA curation, Boeykens 2024. The evidence behind the grade: AVCG class Pathogenic ACMG/AMP class Pathogenic In-silico predictions MutPredLof: Neutral Mutant allele frequency 0 in 1,002 genotyped Genotypes wt/wt 1,002 · wt/vt 0 · vt/vt 0 Human ortholog OMIM 248500 Per-criteria evidence from the Boeykens et al. 2024 supplements (S5/S9, CC-BY). Corroboration compares the OMIA-curated grade against the independent published grade.
Pathogenic	Cat	Methaemoglobinaemia, CYB5R3-related	NC_058374.1:g.135605793C>G F.catus_Fca126_mat1.0	OMIA:002131
Corroborated 2 independent sources: OMIA curation, Boeykens 2024. The evidence behind the grade: AVCG class Pathogenic ACMG/AMP class Pathogenic In-silico predictions Spliceator: acceptor site identified in wt, but not mutant sequence · SpliceSitePredictions: acceptor site identified in wt; not in mutant Mutant allele frequency 0 in 1,002 genotyped Genotypes wt/wt 1,002 · wt/vt 0 · vt/vt 0 Human ortholog OMIM 250800 Per-criteria evidence from the Boeykens et al. 2024 supplements (S5/S9, CC-BY). Corroboration compares the OMIA-curated grade against the independent published grade.
Pathogenic	Cat	Muscular dystrophy, Becker type	XP_044906729.1:p.(W2778*) F.catus_Fca126_mat1.0	OMIA:001888
Pathogenic	Cat	Muscular dystrophy, Becker type	XP_044906729.1:p.(Q2823*) F.catus_Fca126_mat1.0	OMIA:001888
Pathogenic	Cat	Muscular dystrophy, Duchenne type	—	OMIA:001081
Pathogenic	Cat	Muscular dystrophy, Duchenne type	XP_044906729.1:p.(Q1617*) F.catus_Fca126_mat1.0	OMIA:001081
Pathogenic	Cat	Myotonia	NP_001291956.1:p.(L143Qfs3*) F.catus_Fca126_mat1.0	OMIA:000698
Pathogenic	Cat	Myotonia	NP_001291956.1:p.(A331P) F.catus_Fca126_mat1.0	OMIA:000698
Pathogenic	Cat	Osteochondromatosis, EXT1-related	XP_023104530.1:p.(L490Pfs*31) F.catus_Fca126_mat1.0	OMIA:002554
Pathogenic	Cat	Porphyria, acute intermittent	NP_001171279.1:p.(A84T) F.catus_Fca126_mat1.0	OMIA:001493
Pathogenic	Cat	Porphyria, acute intermittent	NC_058377.1:g.16583320G>A F.catus_Fca126_mat1.0	OMIA:001493
Pathogenic	Cat	Porphyria, acute intermittent	NP_001171279.1:p.(L64Sfs*2) F.catus_Fca126_mat1.0	OMIA:001493
Pathogenic	Cat	Retinal degeneration II	NC_058374.1:g.110285757A>C F.catus_Fca126_mat1.0	OMIA:001244
Corroborated 2 independent sources: OMIA curation, Boeykens 2024. The evidence behind the grade: AVCG class Pathogenic ACMG/AMP class Benign In-silico predictions Spliceator: donor site identified in wt and mutant sequence · SpliceSitePredictions: donor site identified in mutant; not in wt Mutant allele frequency 0.00936 in 32,538 genotyped Genotypes wt/wt 31,965 · wt/vt 537 · vt/vt 36 Human ortholog OMIM 611755 - 610189 Per-criteria evidence from the Boeykens et al. 2024 supplements (S5/S9, CC-BY). Corroboration compares the OMIA-curated grade against the independent published grade.
Pathogenic	Cat	Vitamin D-deficiency rickets, type IB	XP_003993064.1:p.(F462Lfs*20) F.catus_Fca126_mat1.0	OMIA:002221
Pathogenic	Dog	Acyl-CoA dehydrogenase, medium chain, deficiency of	XP_038397573.1:p.(T150Ifs*6) UU_Cfam_GSD_1.0	OMIA:002585
Pathogenic	Dog	Amelogenesis imperfecta, ACP4-related	XP_541473.2:p.(A397Gfs) CanFam3.1	OMIA:002177
Pathogenic	Dog	Ataxia, cerebellar, ATP1B2-related	NC_006587.3:g.32551064_32551065ins[LT796559.1:g.50_276] CanFam3.1	OMIA:002110
Pathogenic	Dog	Bardet-Biedl syndrome 4	p.(K20*) CanFam3.1	OMIA:002045
Pathogenic	Dog	Cleft lip with or without cleft palate, ADAMTS20-related	XP_022266696.1:p.(K453Ifs*4) CanFam3.1	OMIA:001140
Pathogenic	Dog	Darier disease	NP_001003214.1:p.(T700Vfs*6) CanFam3.1	OMIA:002265
Pathogenic	Dog	Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related	XP_848937.1:p.(R257*) CanFam3.1	OMIA:000328
Pathogenic	Dog	Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related	p.(P4Rfs*175) CanFam3.1	OMIA:000328
Pathogenic	Dog	Episodic falling, BCAN-related	NC_006589.3:g.41325010_41340731delinsAAGGCC CanFam3.1	OMIA:001592
Pathogenic	Dog	Exercise induced metabolic myopathy	XP_546581.3:p.(Y576*) CanFam3.1	OMIA:002140
Pathogenic	Dog	Familial adenomatous polyposis	XP_013967470.1:p.(K155*) CanFam3.1	OMIA:001916
Pathogenic	Dog	Glaucoma, primary open angle, ADAMTS10-related	XP_022261974.1:p.(G661R) CanFam3.1	OMIA:001870
Pathogenic	Dog	Glaucoma, primary open angle, ADAMTS10-related	XP_022261974.1:p.(A387T) CanFam3.1	OMIA:001870
Pathogenic	Dog	Glaucoma, primary open angle, ADAMTS17-related	XP_022272558.1:p.(L68Gfs*) CanFam3.1	OMIA:001976
Pathogenic	Dog	Glaucoma, primary open angle, ADAMTS17-related	NC_006585.3:g.40812274_45768123inv CanFam3.1	OMIA:001976
Pathogenic	Dog	Glycogen storage disease IIIa	NP_001041561.1:p.(K1408Sfs*6) CanFam3.1	OMIA:001577
Pathogenic	Dog	Hyperoxaluria, primary, type I (Oxalosis I)	XP_003639939.1:p.(G102S) CanFam3.1	OMIA:001672
Pathogenic	Dog	Hypophosphatasia	XP_005617271.1:p.(V434G) CanFam3.1	OMIA:002162
Pathogenic	Dog	Ichthyosis, ABHD5-related	XP_542689.2:p.(D336Sfs*6) CanFam3.1	OMIA:002368
Pathogenic	Dog	Intestinal cobalamin malabsorption, AMN-related	NP_001002960.1:p.(M1?) ROS_Cfam_1.0	OMIA:000565
Pathogenic	Dog	Intestinal cobalamin malabsorption, AMN-related	NP_001002960.1:p.(G372_A382del) CanFam3.1	OMIA:000565
Pathogenic	Dog	Lens luxation	NC_006585.3:g.40782144G>A CanFam3.1	OMIA:000588
Pathogenic	Dog	Lipid malabsorption, ACSL5-related	NC_006610.3:g.23380074_23483377del CanFam3.1	OMIA:002226
Pathogenic	Dog	Lysosomal storage disease, ARSG related	XP_005624233.1:p.(R99H) CanFam3.1	OMIA:001503
Pathogenic	Dog	Mucopolysaccharidosis VI	NC_006585.3:g.27870127_27870182del CanFam3.1	OMIA:000666
Pathogenic	Dog	Mucopolysaccharidosis VI	NP_001041598.1:p.(A35Gfs*108) CanFam3.1	OMIA:000666
Pathogenic	Dog	Mucopolysaccharidosis VI	NP_001041598.1:p.(Q99*) CanFam3.1	OMIA:000666
Pathogenic	Dog	Neuronal ceroid lipofuscinosis, 12	NC_006584.3:g.81210367del CanFam3.1	OMIA:001552
Pathogenic	Dog	Neutropenia, cyclic	NP_001002974.1:p.(T803Nfs*5) CanFam3.1	OMIA:000248
Pathogenic	Dog	Persistent Mullerian duct syndrome, AMHR2-related	XP_543632.4:p.(R88*) CanFam3.1	OMIA:002775
Pathogenic	Dog	Pontocerebellar hypoplasia, AMPD2-related	XP_038396993.1:p.(D711Mfs12*) UU_Cfam_GSD_1.0	OMIA:002838
Pathogenic	Dog	Recurrent inflammatory pulmonary disease	XP_013973425.1:p.(D906Afs*173) CanFam3.1	OMIA:002205
Pathogenic	Dog	Respiratory distress syndrome, ANLN-related	XP_005628776.1:p.(R11*) CanFam3.1	OMIA:002539
Pathogenic	Dog	Retinal atrophy - Cone-rod dystrophy 3	—	OMIA:001520
Pathogenic	Dog	Scott Syndrome	NC_006609.3:g.8912219C>T CanFam3.1	OMIA:001353
Pathogenic	Dog	Stargardt disease 1	NP_001003360.2:p.(F1393Lfs*3) CanFam3.1	OMIA:002179
Pathogenic	Dog	Succinic semialdehyde dehydrogenase deficiency	XP_013966074.2:p.(G288D) CanFam3.1	OMIA:002250
Pathogenic	Horse	Androgen insensitivity syndrome (AIS)	NC_009175.3:g.52808634_52808658del EquCab3.0	OMIA:000991
Pathogenic	Horse	Androgen insensitivity syndrome (AIS)	NP_001157363.1:p.(W681S) EquCab3.0	OMIA:000991
Pathogenic	Horse	Coat colour, dominant white	NP_001157338.1:p.(G654R) EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant white	NP_001157338.1:p.(A602V) EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant white	NP_001157338.1:p.(Y717*) EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant white	NP_001157338.1:p.(K236*) EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant white	NC_009146.3:g.79545374C>T EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant white	NC_009146.3:g.79540429C>T EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant white	NC_009146.3:g.79544066C>G EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant white	NC_009146.3:g.79553751C>T EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant white	NC_009146.3:g.79544206A>T EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant white	NP_001157338.1:p.(T732Qfs*9) EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant white	NP_001157338.1:p.(E376Ffs*3) EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant white	NP_001157338.1:p.(S187Rfs*10) EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant white	NC_009146.3:g.79548925_79550822del EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant white	NP_001157338.1:p.(A790Efs*20) EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant white	NP_001157338.1:p.(L11Sfs*115) EquCab3.0	OMIA:000209
Pathogenic	Horse	Dwarfism, ACAN-related	XP_023506054.1:p.(K82Rfs*54) EquCab3.0	OMIA:001271
Pathogenic	Horse	Glycogen storage disease IV	NP_001075409.1:p.(Y34*) EquCab3.0	OMIA:000420
Pathogenic	Horse	Incontinentia pigmenti	NP_001271462.1:p.(R62*) EquCab3.0	OMIA:001899
Pathogenic	Horse	Polysaccharide storage myopathy/PSSM1/Exertional rhabdomyolysis	NP_001119597.2:p.(R309H) EquCab3.0	OMIA:001158
Pathogenic	Horse	Thrombasthenia	NP_001075262.1:p.(R72P) EquCab3.0	OMIA:001000
Pathogenic	Horse	Thrombasthenia	NC_009154.3:g.19247983_19247992del EquCab3.0	OMIA:001000
Likely pathogenic / pathogenic	Cat	Cardiomyopathy, hypertrophic, MYH7-related	XP_006932808.1:p.(E1883K) F.catus_Fca126_mat1.0	OMIA:002212
Likely pathogenic / pathogenic	Cat	classical Ehlers-Danlos syndrome (cEDS), COL5A1-related	XP_023098718.2:p.(L1142Sfs*134) F.catus_Fca126_mat1.0	OMIA:002165
Corroborated 2 independent sources: OMIA curation, Boeykens 2024. The evidence behind the grade: AVCG class Pathogenic In-silico predictions NA: NA · NA: NA Mutant allele frequency 0 in 997 genotyped Genotypes wt/wt 997 · wt/vt 0 · vt/vt 0 Human ortholog OMIM 130000 Per-criteria evidence from the Boeykens et al. 2024 supplements (S5/S9, CC-BY). Corroboration compares the OMIA-curated grade against the independent published grade.
Likely pathogenic / pathogenic	Cat	Forebrain commissural malformation, ventriculomegaly and interhemispheric cysts, GDF7-related	XP_023107842.2:p.(R74Pfs*17) F.catus_Fca126_mat1.0	OMIA:002366
Likely pathogenic / pathogenic	Cat	Methaemoglobinaemia, CYB5R3-related	XP_044918404.1:p.(G183S) F.catus_Fca126_mat1.0	OMIA:002131
Corroborated 2 independent sources: OMIA curation, Boeykens 2024. The evidence behind the grade: AVCG class Likely pathogenic/likely pathogenic/pathogenic ACMG/AMP class Pathogenic In-silico predictions Panther: probably damaging · PhD-SNP: Disease Mutant allele frequency 0 in 1,002 genotyped Genotypes wt/wt 1,002 · wt/vt 0 · vt/vt 0 Human ortholog OMIM 250800 Per-criteria evidence from the Boeykens et al. 2024 supplements (S5/S9, CC-BY). Corroboration compares the OMIA-curated grade against the independent published grade.
Likely pathogenic / pathogenic	Cat	Methaemoglobinaemia, CYB5R3-related	NC_058374.1:g.135605715C>T F.catus_Fca126_mat1.0	OMIA:002131
Likely pathogenic / pathogenic	Cat	Muscular dystrophy, Duchenne type	—	OMIA:001081
Likely pathogenic / pathogenic	Cat	Osteogenesis imperfecta, CREB3L1-related	XP_003993253.2:p.(C124Lfs) F.catus_Fca126_mat1.0	OMIA:002533
Corroborated 2 independent sources: OMIA curation, Boeykens 2024. The evidence behind the grade: AVCG class Pathogenic In-silico predictions NA: NA · NA: NA Human ortholog OMIM 616229 Per-criteria evidence from the Boeykens et al. 2024 supplements (S5/S9, CC-BY). Corroboration compares the OMIA-curated grade against the independent published grade.
Likely pathogenic / pathogenic	Cat	Porphyria, acute intermittent	NP_001171279.1:p.(R149W) F.catus_Fca126_mat1.0	OMIA:001493
Likely pathogenic / pathogenic	Cat	Porphyria, acute intermittent	NP_001171279.1:p.(D36Vfs*6) F.catus_Fca126_mat1.0	OMIA:001493
Likely pathogenic / pathogenic	Dog	Bardet-Biedl syndrome 2	ENSCAFP00000013435.4:p.(A408P) CanFam3.1	OMIA:002484
Likely pathogenic / pathogenic	Dog	Geleophysic dysplasia, ADAMTSL2-related	XP_013972430.1:p.(R221C) CanFam3.1	OMIA:001509
Likely pathogenic / pathogenic	Dog	Glaucoma, primary open angle, ADAMTS17-related	XP_022272559.1:p.(G518S) CanFam3.1	OMIA:001976
Likely pathogenic / pathogenic	Dog	Ichthyosis, ASPRV1-related	XP_013972931.1:p.(L351P) CanFam3.1	OMIA:002099
Likely pathogenic / pathogenic	Dog	Lens luxation · Glaucoma, primary open angle, ADAMTS17-related	XP_013967857.1:p.(V1024_V1025del) CanFam3.1	OMIA:000588
Likely pathogenic / pathogenic	Dog	Mucopolysaccharidosis VI	NP_001041598.1:p.(G304R) CanFam3.1	OMIA:000666
Likely pathogenic / pathogenic	Dog	Neonatal encephalopathy with seizures, ATF2-related	XP_005640391.1:p.(M51R) CanFam3.1	OMIA:001471
Likely pathogenic / pathogenic	Dog	Neurodegenerative vacuolar storage disease	XP_542069.1:p.(A430T) CanFam3.1	OMIA:001954
Likely pathogenic / pathogenic	Dog	Neuronal ceroid lipofuscinosis, 12	XP_005618006.1:p.(T373I) CanFam3.1	OMIA:001552
Likely pathogenic / pathogenic	Dog	Polyneuropathy, ARHGEF10-related	NC_006598.3:g.54349199_54349208del CanFam3.1	OMIA:001917
Likely pathogenic / pathogenic	Horse	Androgen insensitivity syndrome (AIS)	NC_009175.3:g.52728703A>G EquCab3.0	OMIA:000991
Likely pathogenic / pathogenic	Horse	Androgen insensitivity syndrome (AIS)	NP_001157363.1:p.(R63Gfs) EquCab3.0	OMIA:000991
Likely pathogenic / pathogenic	Horse	Coat colour, dominant white	NP_001157338.1:p.(G597R) EquCab3.0	OMIA:000209
Likely pathogenic / pathogenic	Horse	Coat colour, dominant white	NP_001157338.1:p.(C533R) EquCab3.0	OMIA:000209
Likely pathogenic / pathogenic	Horse	Coat colour, dominant white	NP_001157338.1:p.(K830I) EquCab3.0	OMIA:000209
Likely pathogenic / pathogenic	Horse	Coat colour, dominant white	NC_009146.3:g.79580000C>G EquCab3.0	OMIA:000209
Likely pathogenic / pathogenic	Horse	Coat colour, dominant white	NP_001157338.1:p.(H798_N815del) EquCab3.0	OMIA:000209
Likely pathogenic / pathogenic	Horse	Coat colour, dominant white	NC_009146.3:g.79545245C>T EquCab3.0	OMIA:000209
Likely pathogenic / pathogenic	Horse	Coat colour, dominant white	NC_009146.3:g.79579925_79581197del EquCab3.0	OMIA:000209
Likely pathogenic / pathogenic	Horse	Coat colour, dominant white	NP_001157338.1:p.(L674H) EquCab3.0	OMIA:000209
Likely pathogenic / pathogenic	Horse	Dwarfism, ACAN-related	XP_023506054.1:p.(A505P) EquCab3.0	OMIA:001271
Likely pathogenic / pathogenic	Horse	Dwarfism, ACAN-related	XP_005602856.2:p.(F2545_C2551del) EquCab3.0	OMIA:001271
Likely pathogenic	Cat	Epidermolysis bullosa, junctionalis, COL17A1-related	XP_006938218.3:p.(V257Gfs*82) F.catus_Fca126_mat1.0	OMIA:002793
Likely pathogenic	Cat	Wilson disease	XP_023106933.2:p.(T1297R) F.catus_Fca126_mat1.0	OMIA:001071
Likely pathogenic	Dog	Cardiomyopathy, dilated, ABCC9-related	XP_022266680.2:p.(R1186Q) Dog10K_Boxer_Tasha	OMIA:002710
Likely pathogenic	Dog	Darier disease	NP_001003214.1:p.(N809H) UU_Cfam_GSD_1.0	OMIA:002265
Likely pathogenic	Horse	Androgen insensitivity syndrome (AIS)	NP_001157363.1:p.(A711V) EquCab3.0	OMIA:000991
Likely pathogenic	Horse	Coat colour, dominant white	NP_001157338.1:p.(L223P) EquCab3.0	OMIA:000209
Likely pathogenic	Horse	Coat colour, dominant white	NP_001157338.1:p.(C491W) EquCab3.0	OMIA:000209
Likely pathogenic	Horse	Coat colour, dominant white	NP_001157338.1:p.[(E667D);(L674P)] EquCab3.0	OMIA:000209
Likely pathogenic	Horse	Dwarfism, ACAN-related	XP_023506054.1:p.(V424M) EquCab3.0	OMIA:001271
Likely pathogenic	Horse	Night blindness, congenital stationary, GRM6-related	XP_001916969.3:p.(T178M) EquCab3.0	OMIA:002692
Uncertain significance	Cat	Cardiomyopathy, hypertrophic, ALMS1-related	XP_044910337.1:p.(G3883R) F.catus_Fca126_mat1.0	OMIA:002316
Uncertain significance	Cat	Cardiomyopathy, hypertrophic, TNNT2-related	g.42204052C>T Felis_catus_9.0	OMIA:002304
Uncertain significance	Cat	Hypogonadotropic hypogonadism, TAC3-related	XP_003988973.1:p.(V74M) F.catus_Fca126_mat1.0	OMIA:002219
Uncertain significance	Cat	Mucopolysaccharidosis VI	NP_001135731.1:p.(D520N) F.catus_Fca126_mat1.0	OMIA:000666
Uncertain significance	Dog	Ichthyosis, ASPRV1-related	XP_038407520.1:p.(L199Rfs*342) UU_Cfam_GSD_1.0	OMIA:002099
Uncertain significance	Horse	Atlanto occipital fusion	—	OMIA:000081
Uncertain significance	Horse	Coat colour, dominant white	NP_001157338.1:p.(G286R) EquCab3.0	OMIA:000209
Uncertain significance	Horse	Coat colour, dominant white	NP_001157338.1:p.(S846Vfs*15) EquCab3.0	OMIA:000209
Uncertain significance / likely benign	Horse	Coat colour, dominant white	NC_009146.3:g.79578484C>G EquCab3.0	OMIA:000209
Likely benign / benign	Horse	Coat colour, dominant white	NP_001157338.1:p.(A960T) EquCab3.0	OMIA:000209

Scope. The AVCG applies to single-gene disorders: variants in one gene with a high impact on disease risk, where one variant is sufficient (though not always fully penetrant) to cause disease. Grades follow the Animal Variant Classification Guidelines (AVCG; Boeykens, Broeckx et al. 2024, Front Vet Sci 11:1497817), an ACMG/AMP-style scheme; the species-specific feline application is validated in Boeykens et al. 2024 (Front Vet Sci 11:1327081). Classifications are curated in OMIA. Beyond the 142 graded variants, 6 are out-of-scope and 2 currently unresolved under the AVCG scope.

Per-criteria evidence. Where a classification has been worked through in the published guideline, the variant carries a Corroborated tag; open it to see the evidence behind the grade (in-silico predictions, population genotype counts, mutant allele frequency, the human ortholog) and the corroboration record. So far 9 of the 142 carry this detail, the ones documented in the Boeykens 2024 supplements (CC-BY); the rest show the grade alone and gain the evidence as it is added. Corroboration compares the OMIA-curated grade against the independent published grade, and flags any contradiction rather than overwriting it.

Attribution. A grade is an AVCG classification curated in OMIA. Credit: AVCG (Boeykens et al. 2024) and OMIA. A grade describes the documented variant's causality, not a per-animal prediction: penetrance, modifier loci, and environment govern whether a carrier ever shows the phenotype.

Query it. Built for pipelines and reference, not just reading: the same classifications are agent-callable through the Sniff MCP server (mcp.sniff.world) and the grounded Ask endpoint, returning the grade, its OMIA source, and how sure we are, cited.

References

Auto-generated from the sources of the classifications shown above.

Boeykens F, ... Broeckx BJG, et al. Development and validation of animal variant classification guidelines. Front Vet Sci 2024;11:1497817. doi:10.3389/fvets.2024.1497817 · CC-BY-4.0
Nicholas, F.W., Tammen, I., & Sydney Informatics Hub. (2026). Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org. doi:10.25910/2AMR-PV70. (Platform papers: Nicholas FW, NAR 2003 doi:10.1093/nar/gkg074; Lenffer J et al., NAR 2006 doi:10.1093/nar/gkj152.)

Last updated June 14, 2026

Sources: AVCG: Boeykens et al. 2024, Front Vet Sci 11:1497817 (CC-BY) · Feline application: Boeykens et al. 2024, Front Vet Sci 11:1327081 (CC-BY) · Classifications curated in OMIA (omia.org) · Per-criteria evidence: Boeykens 2024 supplements S5/S9 (CC-BY)