C0268621[trait identifier] AND "Laboratory of Metabolic Disorders, Pek - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2430230	NM_000429.3(MAT1A):c.1169C>A (p.Pro390His)	LOC126860980, MAT1A (P390H)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2429436	NM_000429.3(MAT1A):c.1067G>A (p.Arg356Gln)	MAT1A (R356Q)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2429437	NM_000429.3(MAT1A):c.887A>G (p.Tyr296Cys)	MAT1A (Y296C)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 851162	NM_000429.3(MAT1A):c.875G>A (p.Arg292His)	MAT1A (R292H)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2430231	NM_000429.3(MAT1A):c.623A>C (p.Gln208Pro)	MAT1A (Q208P)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GLikely pathogenic
Select item 2429440	NM_000429.3(MAT1A):c.470C>T (p.Ala157Val)	MAT1A (A157V)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2429441	NM_000429.3(MAT1A):c.451C>A (p.Pro151Thr)	MAT1A (P151T)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 853951	NM_000429.3(MAT1A):c.359G>A (p.Cys120Tyr)	MAT1A (C120Y)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2429438	NM_000429.3(MAT1A):c.178T>C (p.Cys60Arg)	MAT1A (C60R)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 1708332	NM_000429.3(MAT1A):c.163G>A (p.Ala55Thr)	MAT1A (A55T)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency +1 more	GUncertain significance
Select item 2429439	NM_000429.3(MAT1A):c.76G>A (p.Gly26Arg)	MAT1A (G26R)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance