C0268621[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1204	NM_000429.3(MAT1A):c.1070C>T (p.Pro357Leu)	MAT1A (P357L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2689405	NM_000429.3(MAT1A):c.1046T>C (p.Val349Ala)	MAT1A (V349A)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2433652	NM_000429.3(MAT1A):c.1003T>C (p.Tyr335His)	MAT1A (Y335H)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency +1 more	GUncertain significance
Select item 1208	NM_000429.3(MAT1A):c.791G>A (p.Arg264His)	MAT1A (R264H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2433651	NM_000429.3(MAT1A):c.691G>A (p.Val231Met)	MAT1A (V231M)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 426944	NM_000429.3(MAT1A):c.529C>T (p.Arg177Trp)	MAT1A (R177W)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity

ClinVar