Related gene-specific medical variations for Gene (Select 4942) - ClinVar

Links from Gene

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244809	NC_000010.10:g.(?_126091476)_(126092509_?)del	OAT	Deletion	Ornithine aminotransferase deficiency	GPathogenic
Select item 3239991	NM_000274.4(OAT):c.450T>A (p.Cys150Ter)	OAT (C12* +1 more)	Single nucleotide variant (nonsense +2 more)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 3239990	NM_000274.4(OAT):c.97del (p.Thr33fs)	OAT (T33fs)	Deletion (frameshift variant +1 more)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 3239989	NM_000274.4(OAT):c.627T>G (p.Tyr209Ter)	OAT (Y102* +3 more)	Single nucleotide variant (nonsense)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 3239988	NM_000274.4(OAT):c.1171dup (p.Trp391fs)	OAT (W191fs +3 more)	Duplication (frameshift variant)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 3239987	NM_000274.4(OAT):c.350dup (p.Asn117fs)	OAT (N117fs)	Duplication (frameshift variant +2 more)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 3075894	NM_000274.4(OAT):c.742G>T (p.Gly248Ter)	LOC121815974, OAT (G110* +3 more)	Single nucleotide variant (nonsense)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 3064096	NM_000274.4(OAT):c.889G>T (p.Gly297Cys)	OAT (G159C +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2918236	NM_000274.4(OAT):c.649-13G>A	LOC121815974, OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2914896	NM_000274.4(OAT):c.717T>C (p.Val239=)	LOC121815974, OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2906452	NM_000274.4(OAT):c.649-14T>C	LOC121815974, OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2893004	NM_000274.4(OAT):c.771+8_771+10dup	LOC121815974, OAT	Duplication (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2888542	NM_000274.4(OAT):c.771+13G>A	LOC121815974, OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2849904	NM_000274.4(OAT):c.661_701del (p.Gln220_Asp221insTer)	LOC121815974, OAT	Deletion (nonsense)	Ornithine aminotransferase deficiency	GPathogenic
Select item 2841503	NM_000274.4(OAT):c.771+14C>G	LOC121815974, OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2830945	NM_000274.4(OAT):c.714T>A (p.Val238=)	LOC121815974, OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2800361	NM_000274.4(OAT):c.649-5T>C	LOC121815974, OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2785477	NM_000274.4(OAT):c.771+2T>C	LOC121815974, OAT	Single nucleotide variant (splice donor variant)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2677395	NM_000274.4(OAT):c.49G>T (p.Gly17Ter)	OAT (G17*)	Single nucleotide variant (nonsense +1 more)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2677394	NM_000274.4(OAT):c.582C>G (p.Tyr194Ter)	OAT (Y194* +2 more)	Single nucleotide variant (nonsense +1 more)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2677393	NM_000274.4(OAT):c.581dup (p.Tyr194Ter)	OAT (Y194* +2 more)	Duplication (nonsense +1 more)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2677392	NM_000274.4(OAT):c.899del (p.Pro300fs)	OAT (P100fs +3 more)	Deletion (frameshift variant)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2677391	NM_000274.4(OAT):c.969C>G (p.Tyr323Ter)	OAT (Y123* +3 more)	Single nucleotide variant (nonsense)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2677390	NM_000274.4(OAT):c.630_631insA (p.Asp211fs)	OAT (D104fs +3 more)	Insertion (frameshift variant)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2677389	NM_000274.4(OAT):c.592_601del (p.Gly198fs)	OAT (G198fs +3 more)	Deletion (frameshift variant +1 more)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2677388	NM_000274.4(OAT):c.900+1G>C	OAT	Single nucleotide variant (splice donor variant)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2677387	NM_000274.4(OAT):c.1160-1G>C	OAT	Single nucleotide variant (splice acceptor variant)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2677386	NM_000274.4(OAT):c.759C>A (p.Cys253Ter)	LOC121815974, OAT (C115* +3 more)	Single nucleotide variant (nonsense)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2192304	NM_000274.4(OAT):c.697C>T (p.Gln233Ter)	LOC121815974, OAT (Q233* +3 more)	Single nucleotide variant (nonsense)	Ornithine aminotransferase deficiency	GPathogenic
Select item 2191290	NM_000274.4(OAT):c.723G>A (p.Pro241=)	LOC121815974, OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2144503	NM_000274.4(OAT):c.712G>A (p.Val238Ile)	LOC121815974, OAT (V100I +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GUncertain significance
Select item 2133737	NM_000274.4(OAT):c.764_771+9delinsTTAGCTGTTTGTATCACACCA	LOC121815974, OAT	Indel (splice donor variant)	Ornithine aminotransferase deficiency	GPathogenic
Select item 2079541	NM_000274.4(OAT):c.756C>T (p.Leu252=)	LOC121815974, OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2058524	NM_000274.4(OAT):c.771+20G>A	LOC121815974, OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 1630651	NM_000274.4(OAT):c.723G>C (p.Pro241=)	LOC121815974, OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 1618275	NM_000274.4(OAT):c.649-7T>A	LOC121815974, OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 1592905	NM_000274.4(OAT):c.771+8C>G	LOC121815974, OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 1584696	NM_000274.4(OAT):c.649-17T>C	LOC121815974, OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 1570437	NM_000274.4(OAT):c.771+10T>C	LOC121815974, OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 1562463	NM_000274.4(OAT):c.753G>A (p.Glu251=)	LOC121815974, OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 1560710	NM_000274.4(OAT):c.649-18T>C	LOC121815974, OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 1529504	NM_000274.4(OAT):c.720T>C (p.Val240=)	LOC121815974, OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 1466429	NM_000274.4(OAT):c.649-1G>C	LOC121815974, OAT	Single nucleotide variant (splice acceptor variant)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 1454173	NM_000274.4(OAT):c.680_702del (p.Ala226_Phe227insTer)	LOC121815974, OAT	Deletion (nonsense)	Ornithine aminotransferase deficiency	GPathogenic
Select item 1402559	NM_000274.4(OAT):c.721_722dup (p.Asp242fs)	LOC121815974, OAT (D104fs +3 more)	Duplication (frameshift variant)	Ornithine aminotransferase deficiency	GPathogenic
Select item 1399291	NM_000274.4(OAT):c.649C>T (p.Arg217Cys)	OAT, LOC121815974 (R79C +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency +1 more	GUncertain significance
Select item 1346836	NM_000274.4(OAT):c.771_771+7del	LOC121815974, OAT	Deletion (splice donor variant)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 1285775	NM_000274.4(OAT):c.771+227G>A	LOC121815974, OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268144	NM_000274.4(OAT):c.771+288C>T	LOC121815974, OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166491	NM_000274.4(OAT):c.771+18_771+21del	OAT, LOC121815974	Deletion (intron variant)	Ornithine aminotransferase deficiency	GBenign
Select item 1160286	NM_000274.4(OAT):c.678G>T (p.Ala226=)	LOC121815974, OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 1154691	NM_000274.4(OAT):c.678G>C (p.Ala226=)	LOC121815974, OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 1153268	NM_000274.4(OAT):c.681C>T (p.Phe227=)	LOC121815974, OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 1148909	NM_000274.4(OAT):c.748C>A (p.Arg250=)	LOC121815974, OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 1147077	NM_000274.4(OAT):c.771+9G>A	LOC121815974, OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 1141113	NM_000274.4(OAT):c.672G>C (p.Val224=)	LOC121815974, OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 1135869	NM_000274.4(OAT):c.675T>C (p.Ala225=)	LOC121815974, OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 1130699	NM_000274.4(OAT):c.678G>A (p.Ala226=)	LOC121815974, OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 1108559	NM_000274.4(OAT):c.771+8C>T	LOC121815974, OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 1093237	NM_000274.4(OAT):c.711C>G (p.Gly237=)	LOC121815974, OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 1077947	NM_000274.4(OAT):c.771+9G>C	LOC121815974, OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 1011771	NM_000274.4(OAT):c.650G>A (p.Arg217His)	LOC121815974, OAT (R110H +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GUncertain significance
Select item 991858	NM_000274.4(OAT):c.718G>A (p.Val240Ile)	LOC121815974, OAT (V102I +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GUncertain significance
Select item 991855	NM_000274.4(OAT):c.1187G>A (p.Arg396Gln)	OAT (R196Q +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GUncertain significance
Select item 989757	NM_000274.4(OAT):c.43A>T (p.Ser15Cys)	OAT (S15C)	Single nucleotide variant (missense variant +1 more)	Ornithine aminotransferase deficiency	GUncertain significance
Select item 526626	NM_000274.4(OAT):c.736C>T (p.Leu246=)	LOC121815974, OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GConflicting classifications of pathogenicity
Select item 456523	NM_000274.4(OAT):c.740T>C (p.Met247Thr)	LOC121815974, OAT (M247T +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GUncertain significance
Select item 100806	NM_000274.4(OAT):c.293T>C (p.Val98Ala)	OAT (V98A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 56140	NM_000274.4(OAT):c.978T>A (p.Asn326Lys)	OAT (N188K +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 56137	NM_000274.4(OAT):c.901-2A>G	OAT	Single nucleotide variant (splice acceptor variant)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 56135	NM_000274.4(OAT):c.748C>T (p.Arg250Ter)	LOC121815974, OAT (R112* +3 more)	Single nucleotide variant (nonsense)	Ornithine aminotransferase deficiency	GPathogenic
Select item 56134	NM_000274.4(OAT):c.710G>A (p.Gly237Asp)	LOC121815974, OAT (G237D +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 56133	NM_000274.4(OAT):c.698A>G (p.Gln233Arg)	OAT, LOC121815974 (Q233R +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GConflicting classifications of pathogenicity
Select item 56128	NM_000274.4(OAT):c.425G>A (p.Gly142Glu)	OAT (G142E +1 more)	Single nucleotide variant (missense variant +2 more)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 56126	NM_000274.4(OAT):c.425-2A>G	OAT	Single nucleotide variant (splice acceptor variant +1 more)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 56125	NM_000274.4(OAT):c.381dup (p.Thr128fs)	OAT (T128fs)	Duplication (frameshift variant +2 more)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 56124	NM_000274.4(OAT):c.370GAG[1] (p.Glu125del)	OAT (E125del)	Microsatellite (inframe_deletion +2 more)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 56123	NM_000274.4(OAT):c.362G>A (p.Gly121Asp)	OAT (G121D)	Single nucleotide variant (missense variant +2 more)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 56122	NM_000274.4(OAT):c.311A>G (p.Gln104Arg)	OAT (Q104R)	Single nucleotide variant (missense variant +2 more)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 56120	NM_000274.4(OAT):c.267C>A (p.Asn89Lys)	OAT (N89K)	Single nucleotide variant (missense variant +2 more)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 56114	NM_000274.4(OAT):c.1181G>A (p.Cys394Tyr)	OAT (C256Y +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 56111	NM_000274.4(OAT):c.1031del (p.Asn344fs)	OAT (N144fs +3 more)	Deletion (frameshift variant)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 181	NM_000274.4(OAT):c.677C>T (p.Ala226Val)	LOC121815974, OAT (A226V +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GPathogenic
Select item 169	NM_000274.4(OAT):c.749G>C (p.Arg250Pro)	LOC121815974, OAT (R250P +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GPathogenic
Select item 168	NM_000274.4(OAT):c.722C>T (p.Pro241Leu)	LOC121815974, OAT (P241L +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 160	NM_000274.4(OAT):c.734A>G (p.Tyr245Cys)	LOC121815974, OAT (Y245C +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GPathogenic

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Items: 86