"MAT1A-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 772426	NM_000429.3(MAT1A):c.1140C>T (p.Phe380=)	LOC126860980, MAT1A	Single nucleotide variant (synonymous variant)	MAT1A-related disorder +1 more	GLikely benign
Select item 279845	NM_000429.3(MAT1A):c.776C>T (p.Ala259Val)	MAT1A (A259V)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency +2 more	GPathogenic
Select item 426944	NM_000429.3(MAT1A):c.529C>T (p.Arg177Trp)	MAT1A (R177W)	Single nucleotide variant (missense variant)	MAT1A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 845739	NM_000429.3(MAT1A):c.452C>T (p.Pro151Leu)	MAT1A (P151L)	Single nucleotide variant (missense variant)	MAT1A-related disorder +1 more	GUncertain significance
Select item 3047395	NM_000429.3(MAT1A):c.405+10C>G	MAT1A	Single nucleotide variant (intron variant)	MAT1A-related disorder	GLikely benign
Select item 529462	NM_000429.3(MAT1A):c.98T>A (p.Ile33Asn)	MAT1A (I33N)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency +1 more	GUncertain significance

ClinVar