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, Broeckx 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/mcp/ · 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 (cDNA) · reference	OMIA
Pathogenic	Cat	Cardiomyopathy, hypertrophic, MYBPC3-related, autosomal dominantMondo↗	c.2453C>T · p.(R818W) F.catus_Fca126_mat1.0	OMIA:002951
Pathogenic	Cat	Cardiomyopathy, hypertrophic, MYBPC3-related, autosomal recessiveMondo↗	c.91G>C · p.(A31P) F.catus_Fca126_mat1.0	OMIA:002952
Pathogenic	Cat	classical Ehlers-Danlos syndrome (cEDS), COL5A1-relatedMondo↗	c.504-2A>C · r.spl F.catus_Fca126_mat1.0	OMIA:002165
Pathogenic	Cat	classical Ehlers-Danlos syndrome (cEDS), COL5A1-relatedMondo↗	g.93561989_93595728del F.catus_Fcat126_mat1.0	OMIA:002165
Pathogenic	Cat	Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-relatedMondo↗	c.698dup · p.(S235Qfs*3) F.catus_Fca126_mat1.0	OMIA:000328
Pathogenic	Cat	Dihydropyrimidinase deficiencyMondo↗	c.1303G>A · p.(G435R) F.catus_Fca126_mat1.0	OMIA:001776
Pathogenic	Cat	Epidermolysis bullosa, junctionalis, COL17A1-relatedMondo↗	c.3019+1del F.catus_Fca126_mat1.0	OMIA:002793
Pathogenic	Cat	Factor XII deficiencyMondo↗	c.1631G>C · p.(G544A) F.catus_Fca126_mat1.0	OMIA:000364
Pathogenic	Cat	Frontonasal dysplasia, ALX1-relatedMondo↗	c.497_508del · p.(A166_T169del) F.catus_Fca126_mat1.0	OMIA:002717
Pathogenic	Cat	Gangliosidosis, GM2, type II (Sandhoff or variant 0)Mondo↗	c.1244-8_1250del · r.(spl?) F.catus_Fca126_mat1.0	OMIA:001462
Corroborated 2 independent sources agree (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 Evidence drawn from the Boeykens, Broeckx et al. 2024 supplements (S5/S9, CC-BY) — the evidence behind the grade, not the per-criteria AVCG code breakdown (PVS1/PM2-style), which is a planned addition. Corroboration compares the OMIA-curated grade against the independent published grade.
Pathogenic	Cat	Gangliosidosis, GM2, type II (Sandhoff or variant 0)Mondo↗	c.40del · p.(L14Sfs*82) F.catus_Fca126_mat1.0	OMIA:001462
Pathogenic	Cat	Gangliosidosis, GM2, type II (Sandhoff or variant 0)Mondo↗	c.1467_1491inv · p.(F489Lfs*4) F.catus_Fca126_mat1.0	OMIA:001462
Corroborated 2 independent sources agree (OMIA curation, Boeykens 2024). The evidence behind the grade: AVCG class Pathogenic ACMG/AMP class Pathogenic In-silico predictions MutPredLof: Neutral A computational predictor did not flag this variant; in-silico tools can be limited on complex or structural variants. The classification rests on the curated, corroborated evidence and is not overridden by a prediction. Mutant allele frequency not observed in 31,577 genotypedAbsence in this panel is not evidence the variant is absent from the affected breed, which a non-targeted cohort may not sample. Genotypes wt/wt 31,577 · wt/vt 0 · vt/vt 0 Human ortholog OMIM 268800 Evidence drawn from the Boeykens, Broeckx et al. 2024 supplements (S5/S9, CC-BY) — the evidence behind the grade, not the per-criteria AVCG code breakdown (PVS1/PM2-style), which is a planned addition. Corroboration compares the OMIA-curated grade against the independent published grade.
Pathogenic	Cat	Glycogen storage disease IIMondo↗	c.1799G>A · p.(R600H) F.catus_Fca126_mat1.0	OMIA:000419
Pathogenic	Cat	Glycogen storage disease IVMondo↗	g.34574435_34612034delinsN[334] F.catus_Fca126_mat1.0	OMIA:000420
Pathogenic	Cat	Haemophilia BMondo↗	c.1150C>T · p.(R384*) F.catus_Fca126_mat1.0	OMIA:000438
Corroborated 2 independent sources agree (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 A computational predictor did not flag this variant; in-silico tools can be limited on complex or structural variants. The classification rests on the curated, corroborated evidence and is not overridden by a prediction. Mutant allele frequency not observed in 31,558 genotypedAbsence in this panel is not evidence the variant is absent from the affected breed, which a non-targeted cohort may not sample. Genotypes wt/wt 31,558 · wt/vt 0 · vt/vt 0 Human ortholog OMIM 306900 Evidence drawn from the Boeykens, Broeckx et al. 2024 supplements (S5/S9, CC-BY) — the evidence behind the grade, not the per-criteria AVCG code breakdown (PVS1/PM2-style), which is a planned addition. Corroboration compares the OMIA-curated grade against the independent published grade.
Pathogenic	Cat	Hypohidrotic ectodermal dysplasia, X-linked, EDA-relatedMondo↗	c.1042G>A · p.(A348T) F.catus_Fca126_mat1.0	OMIA:000543
Pathogenic	Cat	Hypotrichosis, HR-relatedMondo↗	c.1402+2delinsCAG F.catus_Fca126_mat1.0	OMIA:002229
Pathogenic	Cat	Mannosidosis, alphaMondo↗	c.1749_1752del · p.(Q584Afs) F.catus_Fca126_mat1.0	OMIA:000625
Corroborated 2 independent sources agree (OMIA curation, Boeykens 2024). The evidence behind the grade: AVCG class Pathogenic ACMG/AMP class Pathogenic In-silico predictions MutPredLof: Neutral A computational predictor did not flag this variant; in-silico tools can be limited on complex or structural variants. The classification rests on the curated, corroborated evidence and is not overridden by a prediction. Mutant allele frequency not observed in 1,002 genotypedAbsence in this panel is not evidence the variant is absent from the affected breed, which a non-targeted cohort may not sample. Genotypes wt/wt 1,002 · wt/vt 0 · vt/vt 0 Human ortholog OMIM 248500 Evidence drawn from the Boeykens, Broeckx et al. 2024 supplements (S5/S9, CC-BY) — the evidence behind the grade, not the per-criteria AVCG code breakdown (PVS1/PM2-style), which is a planned addition. Corroboration compares the OMIA-curated grade against the independent published grade.
Pathogenic	Cat	Methaemoglobinaemia, CYB5R3-relatedMondo↗	c.154-1G>C F.catus_Fca126_mat1.0	OMIA:002131
Corroborated 2 independent sources agree (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 not observed in 1,002 genotypedAbsence in this panel is not evidence the variant is absent from the affected breed, which a non-targeted cohort may not sample. Genotypes wt/wt 1,002 · wt/vt 0 · vt/vt 0 Human ortholog OMIM 250800 Evidence drawn from the Boeykens, Broeckx et al. 2024 supplements (S5/S9, CC-BY) — the evidence behind the grade, not the per-criteria AVCG code breakdown (PVS1/PM2-style), which is a planned addition. Corroboration compares the OMIA-curated grade against the independent published grade.
Pathogenic	Cat	Muscular dystrophy, Becker typeMondo↗	c.8333G>A · p.(W2778*) F.catus_Fca126_mat1.0	OMIA:001888
Pathogenic	Cat	Muscular dystrophy, Becker typeMondo↗	c.8467C>T · p.(Q2823*) F.catus_Fca126_mat1.0	OMIA:001888
Pathogenic	Cat	Muscular dystrophy, Duchenne typeMondo↗	—	OMIA:001081
Pathogenic	Cat	Muscular dystrophy, Duchenne typeMondo↗	c.4849C>T · p.(Q1617*) F.catus_Fca126_mat1.0	OMIA:001081
Pathogenic	Cat	Myotonia	c.428_433+1del · p.(L143Qfs3*) F.catus_Fca126_mat1.0	OMIA:000698
Pathogenic	Cat	Myotonia	c.991G>C · p.(A331P) F.catus_Fca126_mat1.0	OMIA:000698
Pathogenic	Cat	Osteochondromatosis, EXT1-relatedMondo↗	c.1468dup · p.(L490Pfs*31) F.catus_Fca126_mat1.0	OMIA:002554
Pathogenic	Cat	Porphyria, acute intermittentMondo↗	c.250G>A · p.(A84T) F.catus_Fca126_mat1.0	OMIA:001493
Pathogenic	Cat	Porphyria, acute intermittentMondo↗	c.826-1G>A F.catus_Fca126_mat1.0	OMIA:001493
Pathogenic	Cat	Porphyria, acute intermittentMondo↗	c.189dup · p.(L64Sfs*2) F.catus_Fca126_mat1.0	OMIA:001493
Pathogenic	Cat	Retinal degeneration IIMondo↗	c.7584+9T>G F.catus_Fca126_mat1.0	OMIA:001244
Corroborated 2 independent sources agree (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 Evidence drawn from the Boeykens, Broeckx et al. 2024 supplements (S5/S9, CC-BY) — the evidence behind the grade, not the per-criteria AVCG code breakdown (PVS1/PM2-style), which is a planned addition. Corroboration compares the OMIA-curated grade against the independent published grade.
Pathogenic	Cat	Vitamin D-deficiency rickets, type IBMondo↗	c.1386del · p.(F462Lfs*20) F.catus_Fca126_mat1.0	OMIA:002221
Pathogenic	Dog	Acyl-CoA dehydrogenase, medium chain, deficiency ofMondo↗	c.444_445delinsGTTAATTCTCAATATTGTCTAAGAATTATG · p.(T150Ifs*6) UU_Cfam_GSD_1.0	OMIA:002585
Pathogenic	Dog	Amelogenesis imperfecta, ACP4-relatedMondo↗	c.1189dupG · p.(A397Gfs) CanFam3.1	OMIA:002177
Pathogenic	Dog	Ataxia, cerebellar, ATP1B2-related Mondo↗	ATP1B2 c.130_131ins[LT796559.1:g.50_276] CanFam3.1	OMIA:002110
Pathogenic	Dog	Bardet-Biedl syndrome 4Mondo↗	c.58A>T · p.(K20*) CanFam3.1	OMIA:002045
Pathogenic	Dog	Cleft lip with or without cleft palate, ADAMTS20-related Mondo↗	ADAMTS20 c.1358_1359del · p.(K453Ifs*4) CanFam3.1	OMIA:001140
Pathogenic	Dog	Darier diseaseMondo↗	c.2098-3_2098-2insN[(205)] · p.(T700Vfs*6) CanFam3.1	OMIA:002265
Pathogenic	Dog	Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-relatedMondo↗	c.769C>T · p.(R257*) CanFam3.1	OMIA:000328
Pathogenic	Dog	Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-relatedMondo↗	c.10del · p.(P4Rfs*175) CanFam3.1	OMIA:000328
Pathogenic	Dog	Episodic falling, BCAN-related Mondo↗	BCAN c.-13991_466+85delinsGGCCTT CanFam3.1	OMIA:001592
Pathogenic	Dog	Exercise induced metabolic myopathyMondo↗	c.1728C>A · p.(Y576*) CanFam3.1	OMIA:002140
Pathogenic	Dog	Familial adenomatous polyposisMondo↗	c.[462_463delinsTT] · p.(K155*) CanFam3.1	OMIA:001916
Pathogenic	Dog	Glaucoma, primary open angle, ADAMTS10-related Mondo↗	ADAMTS10 c.1981G>A · p.(G661R) CanFam3.1	OMIA:001870
Pathogenic	Dog	Glaucoma, primary open angle, ADAMTS10-related Mondo↗	ADAMTS10 c.1159G>A · p.(A387T) CanFam3.1	OMIA:001870
Pathogenic	Dog	Glaucoma, primary open angle, ADAMTS17-related Mondo↗	ADAMTS17 c.194_213del · p.(L68Gfs*) CanFam3.1	OMIA:001976
Pathogenic	Dog	Glaucoma, primary open angle, ADAMTS17-related Mondo↗	ADAMTS17 c.1721+2668_*4831255inv CanFam3.1	OMIA:001976
Pathogenic	Dog	Glycogen storage disease IIIa Mondo↗	AGL c.4223del · p.(K1408Sfs*6) CanFam3.1	OMIA:001577
Pathogenic	Dog	Hyperoxaluria, primary, type I (Oxalosis I)Mondo↗	c.304G>A · p.(G102S) CanFam3.1	OMIA:001672
Pathogenic	Dog	Hypophosphatasia Mondo↗	ALPL c.1301T>G · p.(V434G) CanFam3.1	OMIA:002162
Pathogenic	Dog	Ichthyosis, ABHD5-relatedMondo↗	c.1006_1019del · p.(D336Sfs*6) CanFam3.1	OMIA:002368
Pathogenic	Dog	Intestinal cobalamin malabsorption, AMN-relatedMondo↗	c.3G>A · p.(M1?) ROS_Cfam_1.0	OMIA:000565
Pathogenic	Dog	Intestinal cobalamin malabsorption, AMN-relatedMondo↗	c.1113_1145del · p.(G372_A382del) CanFam3.1	OMIA:000565
Pathogenic	Dog	Lens luxation Mondo↗	ADAMTS17 c.1473+1G>A CanFam3.1	OMIA:000588
Pathogenic	Dog	Lipid malabsorption, ACSL5-relatedMondo↗	g.23380074_23483377del CanFam3.1	OMIA:002226
Pathogenic	Dog	Lysosomal storage disease, ARSG related Mondo↗	ARSG c.296G>A · p.(R99H) CanFam3.1	OMIA:001503
Pathogenic	Dog	Mucopolysaccharidosis VIMondo↗	c.-24_32del CanFam3.1	OMIA:000666
Pathogenic	Dog	Mucopolysaccharidosis VIMondo↗	c.103_124del · p.(A35Gfs*108) CanFam3.1	OMIA:000666
Pathogenic	Dog	Mucopolysaccharidosis VIMondo↗	c.295C>T · p.(Q99*) CanFam3.1	OMIA:000666
Pathogenic	Dog	Neuronal ceroid lipofuscinosis, 12 Mondo↗	ATP13A2 c.1623del CanFam3.1	OMIA:001552
Pathogenic	Dog	Neutropenia, cyclicMondo↗	c.2407_2408insA · p.(T803Nfs*5) CanFam3.1	OMIA:000248
Pathogenic	Dog	Persistent Mullerian duct syndrome, AMHR2-relatedMondo↗	c.262C>T · p.(R88*) CanFam3.1	OMIA:002775
Pathogenic	Dog	Pontocerebellar hypoplasia, AMPD2-relatedMondo↗	c.2131del · p.(D711Mfs12*) UU_Cfam_GSD_1.0	OMIA:002838
Pathogenic	Dog	Recurrent inflammatory pulmonary disease Mondo↗	AKNA c.2717_2720delACAG · p.(D906Afs*173) CanFam3.1	OMIA:002205
Pathogenic	Dog	Respiratory distress syndrome, ANLN-related Mondo↗	ANLN c.31C>T · p.(R11*) CanFam3.1	OMIA:002539
Pathogenic	Dog	Retinal atrophy - Cone-rod dystrophy 3Mondo↗	—	OMIA:001520
Pathogenic	Dog	Scott Syndrome Mondo↗	ANO6 c.1934+1G>A CanFam3.1	OMIA:001353
Pathogenic	Dog	Stargardt disease 1 Mondo↗	ABCA4 c.4176dup · p.(F1393Lfs*3) CanFam3.1	OMIA:002179
Pathogenic	Dog	Succinic semialdehyde dehydrogenase deficiencyMondo↗	c.866G>A · p.(G288D) CanFam3.1	OMIA:002250
Pathogenic	Horse	Androgen insensitivity syndrome (AIS)Mondo↗	c.1630_1654del EquCab3.0	OMIA:000991
Pathogenic	Horse	Androgen insensitivity syndrome (AIS)Mondo↗	c.2042G>C · p.(W681S) EquCab3.0	OMIA:000991
Pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.1960G>A · p.(G654R) EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.1805C>T · p.(A602V) EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.2151C>G · p.(Y717*) EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.706A>T · p.(K236*) EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.2222-1G>A EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.2684+1G>A EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.2472+5G>C EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.1346+1G>A EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant whiteMondo↗	g.79544206A>T EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.2193delG · p.(T732Qfs*9) EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.1126_1129del · p.(E376Ffs*3) EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.559_563del · p.(S187Rfs*10) EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant whiteMondo↗	g.79548925_79550822del EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.2369delC · p.(A790Efs*20) EquCab3.0	OMIA:000209
Pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.30_31insT · p.(L11Sfs*115) EquCab3.0	OMIA:000209
Pathogenic	Horse	Dwarfism, ACAN-relatedMondo↗	c.245del · p.(K82Rfs*54) EquCab3.0	OMIA:001271
Pathogenic	Horse	Glycogen storage disease IVMondo↗	c.102C>A · p.(Y34*) EquCab3.0	OMIA:000420
Pathogenic	Horse	Incontinentia pigmentiMondo↗	c.184C>T · p.(R62*) EquCab3.0	OMIA:001899
Pathogenic	Horse	Polysaccharide storage myopathy/PSSM1/Exertional rhabdomyolysisMondo↗	c.926G>A · p.(R309H) EquCab3.0	OMIA:001158
Pathogenic	Horse	ThrombastheniaMondo↗	c.215G>C · p.(R72P) EquCab3.0	OMIA:001000
Pathogenic	Horse	ThrombastheniaMondo↗	g.19247983_19247992del EquCab3.0	OMIA:001000
Likely pathogenic / pathogenic	Cat	Cardiomyopathy, hypertrophic, MYH7-relatedMondo↗	c.5647G>A · p.(E1883K) F.catus_Fca126_mat1.0	OMIA:002212
Likely pathogenic / pathogenic	Cat	classical Ehlers-Danlos syndrome (cEDS), COL5A1-relatedMondo↗	XM_023242950.2c.3423del · p.(L1142Sfs*134) F.catus_Fca126_mat1.0	OMIA:002165
Corroborated 2 independent sources agree (OMIA curation, Boeykens 2024). The evidence behind the grade: AVCG class Pathogenic Mutant allele frequency not observed in 997 genotypedAbsence in this panel is not evidence the variant is absent from the affected breed, which a non-targeted cohort may not sample. Genotypes wt/wt 997 · wt/vt 0 · vt/vt 0 Human ortholog OMIM 130000 Evidence drawn from the Boeykens, Broeckx et al. 2024 supplements (S5/S9, CC-BY) — the evidence behind the grade, not the per-criteria AVCG code breakdown (PVS1/PM2-style), which is a planned addition. Corroboration compares the OMIA-curated grade against the independent published grade.
Likely pathogenic / pathogenic	Cat	Forebrain commissural malformation, ventriculomegaly and interhemispheric cysts, GDF7-related	c.221_227del · p.(R74Pfs*17) F.catus_Fca126_mat1.0	OMIA:002366
Likely pathogenic / pathogenic	Cat	Methaemoglobinaemia, CYB5R3-relatedMondo↗	c.547G>A · p.(G183S) F.catus_Fca126_mat1.0	OMIA:002131
Corroborated 2 independent sources agree (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 not observed in 1,002 genotypedAbsence in this panel is not evidence the variant is absent from the affected breed, which a non-targeted cohort may not sample. Genotypes wt/wt 1,002 · wt/vt 0 · vt/vt 0 Human ortholog OMIM 250800 Evidence drawn from the Boeykens, Broeckx et al. 2024 supplements (S5/S9, CC-BY) — the evidence behind the grade, not the per-criteria AVCG code breakdown (PVS1/PM2-style), which is a planned addition. Corroboration compares the OMIA-curated grade against the independent published grade.
Likely pathogenic / pathogenic	Cat	Methaemoglobinaemia, CYB5R3-relatedMondo↗	c.226+5G>A F.catus_Fca126_mat1.0	OMIA:002131
Likely pathogenic / pathogenic	Cat	Muscular dystrophy, Duchenne typeMondo↗	—	OMIA:001081
Likely pathogenic / pathogenic	Cat	Osteogenesis imperfecta, CREB3L1-relatedMondo↗	c.370_371del · p.(C124Lfs) F.catus_Fca126_mat1.0	OMIA:002533
Corroborated 2 independent sources agree (OMIA curation, Boeykens 2024). The evidence behind the grade: AVCG class Pathogenic Human ortholog OMIM 616229 Evidence drawn from the Boeykens, Broeckx et al. 2024 supplements (S5/S9, CC-BY) — the evidence behind the grade, not the per-criteria AVCG code breakdown (PVS1/PM2-style), which is a planned addition. Corroboration compares the OMIA-curated grade against the independent published grade.
Likely pathogenic / pathogenic	Cat	Porphyria, acute intermittentMondo↗	c.445C>T · p.(R149W) F.catus_Fca126_mat1.0	OMIA:001493
Likely pathogenic / pathogenic	Cat	Porphyria, acute intermittentMondo↗	c.107_110del · p.(D36Vfs*6) F.catus_Fca126_mat1.0	OMIA:001493
Likely pathogenic / pathogenic	Dog	Bardet-Biedl syndrome 2 Mondo↗	BBS2 c.1222G>C · p.(A408P) CanFam3.1	OMIA:002484
Likely pathogenic / pathogenic	Dog	Geleophysic dysplasia, ADAMTSL2-related Mondo↗	ADAMTSL2 c.661C>T · p.(R221C) CanFam3.1	OMIA:001509
Likely pathogenic / pathogenic	Dog	Glaucoma, primary open angle, ADAMTS17-related Mondo↗	ADAMTS17 c.1552G>A · p.(G518S) CanFam3.1	OMIA:001976
Likely pathogenic / pathogenic	Dog	Ichthyosis, ASPRV1-relatedMondo↗	c.1052T>C · p.(L351P) CanFam3.1	OMIA:002099
Likely pathogenic / pathogenic	Dog	Lens luxation Mondo↗ · Glaucoma, primary open angle, ADAMTS17-related Mondo↗	ADAMTS17 c.3069_3074del · p.(V1024_V1025del) CanFam3.1	OMIA:000588
Likely pathogenic / pathogenic	Dog	Mucopolysaccharidosis VIMondo↗	c.910G>A · p.(G304R) CanFam3.1	OMIA:000666
Likely pathogenic / pathogenic	Dog	Neonatal encephalopathy with seizures, ATF2-related Mondo↗	ATF2 c.152T>G · p.(M51R) CanFam3.1	OMIA:001471
Likely pathogenic / pathogenic	Dog	Neurodegenerative vacuolar storage disease Mondo↗	ATG4D c.1288G>A · p.(A430T) CanFam3.1	OMIA:001954
Likely pathogenic / pathogenic	Dog	Neuronal ceroid lipofuscinosis, 12 Mondo↗	ATP13A2 c.1118C>T · p.(T373I) CanFam3.1	OMIA:001552
Likely pathogenic / pathogenic	Dog	Polyneuropathy, ARHGEF10-relatedMondo↗	c.1955_1958+6del CanFam3.1	OMIA:001917
Likely pathogenic / pathogenic	Horse	Androgen insensitivity syndrome (AIS)Mondo↗	c.1A>G EquCab3.0	OMIA:000991
Likely pathogenic / pathogenic	Horse	Androgen insensitivity syndrome (AIS)Mondo↗	c.183del · p.(R63Gfs) EquCab3.0	OMIA:000991
Likely pathogenic / pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.1789G>A · p.(G597R) EquCab3.0	OMIA:000209
Likely pathogenic / pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.1597T>C · p.(C533R) EquCab3.0	OMIA:000209
Likely pathogenic / pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.2489A>T · p.(K830I) EquCab3.0	OMIA:000209
Likely pathogenic / pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.338-1G>C EquCab3.0	OMIA:000209
Likely pathogenic / pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.2392_2445del · p.(H798_N815del) EquCab3.0	OMIA:000209
Likely pathogenic / pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.2349+1G>A EquCab3.0	OMIA:000209
Likely pathogenic / pathogenic	Horse	Coat colour, dominant whiteMondo↗	g.79579925_79581197del EquCab3.0	OMIA:000209
Likely pathogenic / pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.2021T>A · p.(L674H) EquCab3.0	OMIA:000209
Likely pathogenic / pathogenic	Horse	Dwarfism, ACAN-relatedMondo↗	c.1513G>C · p.(A505P) EquCab3.0	OMIA:001271
Likely pathogenic / pathogenic	Horse	Dwarfism, ACAN-relatedMondo↗	c.7633_7653del · p.(F2545_C2551del) EquCab3.0	OMIA:001271
Likely pathogenic	Cat	Epidermolysis bullosa, junctionalis, COL17A1-relatedMondo↗	c.769+5G>A · p.(V257Gfs*82) F.catus_Fca126_mat1.0	OMIA:002793
Likely pathogenic	Cat	Wilson diseaseMondo↗	c.3890C>G · p.(T1297R) F.catus_Fca126_mat1.0	OMIA:001071
Likely pathogenic	Dog	Cardiomyopathy, dilated, ABCC9-relatedMondo↗	c.3557G>A · p.(R1186Q) Dog10K_Boxer_Tasha	OMIA:002710
Likely pathogenic	Dog	Darier diseaseMondo↗	c.2425A>C · p.(N809H) UU_Cfam_GSD_1.0	OMIA:002265
Likely pathogenic	Horse	Androgen insensitivity syndrome (AIS)Mondo↗	c.2132C>T · p.(A711V) EquCab3.0	OMIA:000991
Likely pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.668T>C · p.(L223P) EquCab3.0	OMIA:000209
Likely pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.1473T>G · p.(C491W) EquCab3.0	OMIA:000209
Likely pathogenic	Horse	Coat colour, dominant whiteMondo↗	c.[2000A>T;2021T>C] · p.[(E667D);(L674P)] EquCab3.0	OMIA:000209
Likely pathogenic	Horse	Dwarfism, ACAN-relatedMondo↗	c.1270C>T · p.(V424M) EquCab3.0	OMIA:001271
Likely pathogenic	Horse	Night blindness, congenital stationary, GRM6-relatedMondo↗	c.533C>T · p.(T178M) EquCab3.0	OMIA:002692
Uncertain significance	Cat	Cardiomyopathy, hypertrophic, ALMS1-relatedMondo↗	c.11647G>C · p.(G3883R) F.catus_Fca126_mat1.0	OMIA:002316
Uncertain significance	Cat	Cardiomyopathy, hypertrophic, TNNT2-relatedMondo↗	c.95-108G>A Felis_catus_9.0	OMIA:002304
Uncertain significance	Cat	Hypogonadotropic hypogonadism, TAC3-relatedMondo↗	c.220G>A · p.(V74M) F.catus_Fca126_mat1.0	OMIA:002219
Uncertain significance	Cat	Mucopolysaccharidosis VIMondo↗	c.1558G>A · p.(D520N) F.catus_Fca126_mat1.0	OMIA:000666
Uncertain significance	Dog	Ichthyosis, ASPRV1-relatedMondo↗	c.594_595del · p.(L199Rfs*342) UU_Cfam_GSD_1.0	OMIA:002099
Uncertain significance	Horse	Atlanto occipital fusion	—	OMIA:000081
Uncertain significance	Horse	Coat colour, dominant whiteMondo↗	c.856G>A · p.(G286R) EquCab3.0	OMIA:000209
Uncertain significance	Horse	Coat colour, dominant whiteMondo↗	c.2536del · p.(S846Vfs*15) EquCab3.0	OMIA:000209
Uncertain significance / likely benign	Horse	Coat colour, dominant whiteMondo↗	c.756+1G>C EquCab3.0	OMIA:000209
Likely benign / benign	Horse	Coat colour, dominant whiteMondo↗	c.2878G>A · 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; erratum 11:1458433). Classifications are curated in OMIA. Beyond the 142 graded variants, 6 are out-of-scope and 2 currently unresolved under the AVCG scope.

Evidence behind the grade. Where the OMIA-curated grade is independently corroborated by the published guideline, the variant carries a green Corroborated tag; open it for the supporting evidence (in-silico predictions, population genotype counts, mutant allele frequency, the human ortholog). 9 of the 142 are corroborated this way today, from the Boeykens, Broeckx et al. 2024 supplements (CC-BY); the remainder rest on a single curated source and show the grade alone, gaining evidence as it is added. This is the evidence behind the grade, not the per-criteria AVCG code breakdown (PVS1/PM2-style), which is a planned ingest. Where sources disagree, the grade is flagged Contested and the disagreement shown, not overwritten.

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.

In the knowledge graph. Each disease is cross-referenced to its canonical Mondo identifier (75 of the diseases here), so a classification links straight into the Monarch knowledge graph, where its human-disease analog and phenotypes live, the Mondo↗ link by each disease opens that term. Mondo is the cross-resource disease ontology (Vasilevsky, Mungall et al. 2025; CC-BY 4.0); the OMIA cross-references are Mondo's own curated mappings, OMIA remains the canonical source of the classification itself. Breed identifiers are reconciled to VBO, FCI, iDog and VeNom as a published SSSOM mapping set.

Query it. Built for pipelines and reference, not just reading: the same classifications are agent-callable through the Sniff MCP server (Streamable HTTP, mcp.sniff.world/mcp/) 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, Broeckx 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) · Evidence behind the grade: Boeykens, Broeckx et al. 2024 supplements S5/S9 (CC-BY)