"Baylor Genetics"[submitter] AND "OAT"[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 56115	NM_000274.4(OAT):c.1307T>A (p.Ile436Asn)	OAT (I298N +3 more)	Single nucleotide variant (missense variant)	Hyperornithinemia +1 more	GPathogenic/Likely pathogenic
Select item 177	NM_000274.4(OAT):c.1276C>T (p.Arg426Ter)	OAT (R426* +3 more)	Single nucleotide variant (nonsense)	Ornithine aminotransferase deficiency +1 more	GPathogenic
Select item 157	NM_000274.4(OAT):c.1250C>T (p.Pro417Leu)	OAT (P417L +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GPathogenic
Select item 156	NM_000274.4(OAT):c.1205T>C (p.Leu402Pro)	OAT (L402P +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency +1 more	GPathogenic
Select item 173	NM_000274.4(OAT):c.1201G>T (p.Gly401Ter)	OAT (G401* +3 more)	Single nucleotide variant (nonsense)	Ornithine aminotransferase deficiency	GPathogenic
Select item 456519	NM_000274.4(OAT):c.1192C>T (p.Arg398Ter)	OAT (R398* +3 more)	Single nucleotide variant (nonsense)	Ornithine aminotransferase deficiency +1 more	GPathogenic
Select item 149	NM_000274.4(OAT):c.1186C>T (p.Arg396Ter)	OAT (R396* +3 more)	Single nucleotide variant (nonsense)	Ornithine aminotransferase deficiency +1 more	GPathogenic/Likely 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 2677387	NM_000274.4(OAT):c.1160-1G>C	OAT	Single nucleotide variant (splice acceptor variant)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2430383	NM_000274.4(OAT):c.1112dup (p.Arg372fs)	OAT (R172fs +3 more)	Duplication (frameshift variant)	Ornithine aminotransferase deficiency +1 more	GLikely pathogenic
Select item 866435	NM_000274.4(OAT):c.1014+1G>A	OAT	Single nucleotide variant (splice donor variant)	Retinal dystrophy +1 more	GLikely pathogenic
Select item 162	NM_000274.4(OAT):c.994G>A (p.Val332Met)	OAT (V332M +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GPathogenic
Select item 56141	NM_000274.4(OAT):c.991C>T (p.Arg331Ter)	OAT (R193* +3 more)	Single nucleotide variant (nonsense)	Ornithine aminotransferase deficiency +1 more	GPathogenic
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 1393786	NM_000274.4(OAT):c.966del (p.Tyr323fs)	OAT (Y185fs +3 more)	Deletion (frameshift variant)	Ornithine aminotransferase deficiency	GPathogenic/Likely pathogenic
Select item 56139	NM_000274.4(OAT):c.952del (p.Glu318fs)	OAT (E180fs +3 more)	Deletion (frameshift variant)	Ornithine aminotransferase deficiency	GPathogenic
Select item 56138	NM_000274.4(OAT):c.952G>A (p.Glu318Lys)	OAT (E180K +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GPathogenic
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 2677392	NM_000274.4(OAT):c.899del (p.Pro300fs)	OAT (P100fs +3 more)	Deletion (frameshift variant)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 1451166	NM_000274.4(OAT):c.896dup (p.Tyr299Ter)	OAT (Y192* +3 more)	Duplication (nonsense)	Ornithine aminotransferase deficiency	GPathogenic/Likely pathogenic
Select item 176	NM_000274.4(OAT):c.897C>G (p.Tyr299Ter)	OAT (Y299* +3 more)	Single nucleotide variant (nonsense)	Ornithine aminotransferase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 180	NM_000274.4(OAT):c.824G>A (p.Trp275Ter)	OAT (W275* +3 more)	Single nucleotide variant (nonsense)	Ornithine aminotransferase deficiency	GPathogenic/Likely pathogenic
Select item 155	NM_000274.4(OAT):c.812G>A (p.Arg271Lys)	OAT (R271K +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GPathogenic
Select item 56136	NM_000274.4(OAT):c.800C>T (p.Thr267Ile)	OAT (T129I +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GPathogenic/Likely pathogenic
Select item 1452949	NM_000274.4(OAT):c.796C>T (p.Gln266Ter)	OAT (Q128* +3 more)	Single nucleotide variant (nonsense)	Ornithine aminotransferase deficiency	GPathogenic/Likely pathogenic
Select item 1072300	NM_000274.4(OAT):c.780del (p.Phe260fs)	OAT (F122fs +3 more)	Deletion (frameshift variant)	Ornithine aminotransferase deficiency	GPathogenic/Likely pathogenic
Select item 1455908	NM_000274.4(OAT):c.776del (p.Leu259fs)	OAT (L152fs +3 more)	Deletion (frameshift variant)	Ornithine aminotransferase deficiency	GPathogenic/Likely 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 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 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 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)	LOC121815974, OAT (Q233R +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GConflicting classifications of pathogenicity
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 +1 more	GPathogenic
Select item 942676	NM_000274.4(OAT):c.648+1G>A	OAT	Single nucleotide variant (splice donor variant)	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 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 175	NM_000274.4(OAT):c.627T>A (p.Tyr209Ter)	OAT (Y209* +3 more)	Single nucleotide variant (nonsense)	Ornithine aminotransferase deficiency	GPathogenic
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 183	NM_000274.4(OAT):c.596C>A (p.Pro199Gln)	OAT (P199Q +2 more)	Single nucleotide variant (missense variant +1 more)	Ornithine aminotransferase deficiency	GPathogenic/Likely 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 56131	NM_000274.4(OAT):c.542C>T (p.Thr181Met)	OAT (T181M +2 more)	Single nucleotide variant (missense variant +1 more)	Ornithine aminotransferase deficiency	GPathogenic
Select item 153	NM_000274.4(OAT):c.539G>C (p.Arg180Thr)	OAT (R180T +2 more)	Single nucleotide variant (missense variant +1 more)	Ornithine aminotransferase deficiency	GPathogenic/Likely pathogenic
Select item 56130	NM_000274.4(OAT):c.533_537del (p.Phe177_Trp178insTer)	OAT	Deletion (nonsense +1 more)	Ornithine aminotransferase deficiency	GPathogenic
Select item 1393887	NM_000274.4(OAT):c.515_516del (p.Phe172fs)	OAT (F172fs +1 more)	Deletion (frameshift variant +2 more)	Ornithine aminotransferase deficiency	GPathogenic/Likely pathogenic
Select item 878556	NM_000274.4(OAT):c.478G>A (p.Val160Met)	OAT (V22M +1 more)	Single nucleotide variant (missense variant +2 more)	Ornithine aminotransferase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1017886	NM_000274.4(OAT):c.461G>A (p.Arg154His)	OAT (R154H +1 more)	Single nucleotide variant (missense variant +2 more)	Ornithine aminotransferase deficiency	GConflicting classifications of pathogenicity
Select item 152	NM_000274.4(OAT):c.461G>T (p.Arg154Leu)	OAT (R154L +1 more)	Single nucleotide variant (missense variant +2 more)	Ornithine aminotransferase deficiency +1 more	GConflicting classifications of pathogenicity
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 1027070	NM_000274.4(OAT):c.416T>G (p.Met139Arg)	OAT (M139R +1 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 56121	NM_000274.4(OAT):c.272G>A (p.Gly91Glu)	OAT (G91E)	Single nucleotide variant (missense variant +2 more)	Ornithine aminotransferase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1457141	NM_000274.4(OAT):c.198del (p.Gly67fs)	OAT (G67fs +1 more)	Deletion (frameshift variant +1 more)	Ornithine aminotransferase deficiency	GPathogenic/Likely pathogenic
Select item 178	NM_000274.4(OAT):c.192_193del (p.Gly65fs)	OAT (G65fs)	Microsatellite (frameshift variant +1 more)	Ornithine aminotransferase deficiency	GConflicting classifications of pathogenicity
Select item 2047188	NM_000274.4(OAT):c.182_189del (p.Ala61fs)	OAT (A61fs)	Deletion (frameshift variant +1 more)	Ornithine aminotransferase deficiency	GPathogenic/Likely pathogenic
Select item 163	NM_000274.4(OAT):c.162C>A (p.Asn54Lys)	OAT (N54K)	Single nucleotide variant (missense variant +1 more)	Ornithine aminotransferase deficiency	GConflicting classifications of pathogenicity
Select item 147	NM_000274.4(OAT):c.159del (p.His53fs)	OAT (H53fs)	Deletion (frameshift variant +1 more)	Ornithine aminotransferase deficiency	GPathogenic
Select item 2136938	NM_000274.4(OAT):c.152G>A (p.Gly51Asp)	OAT (G51D)	Single nucleotide variant (missense variant +1 more)	Ornithine aminotransferase deficiency	GPathogenic/Likely pathogenic
Select item 945586	NM_000274.4(OAT):c.97dup (p.Thr33fs)	OAT (T33fs)	Duplication (frameshift variant +1 more)	Ornithine aminotransferase deficiency	GPathogenic/Likely 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 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 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic

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Items: 62