"TIDEX, University of British Columbia"[submitter] AND "MAT1A"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 431707	NM_000429.3(MAT1A):c.712G>A (p.Glu238Lys)	MAT1A (E238K)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GConflicting classifications of pathogenicity
Select item 431706	NM_000429.3(MAT1A):c.242G>A (p.Arg81Gln)	MAT1A (R81Q)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance