"OMIM"[submitter] AND "MAT1A"[gene] - ClinVar - NCBI

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Items: 10

	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 1207	NM_000429.3(MAT1A):c.1043_1044del (p.Val348fs)	MAT1A (V348fs)	Microsatellite (frameshift variant)	Hepatic methionine adenosyltransferase deficiency	GPathogenic
Select item 1211	NM_000429.3(MAT1A):c.1006G>A (p.Gly336Arg)	MAT1A (G336R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1202	NM_000429.3(MAT1A):c.966T>G (p.Ile322Met)	MAT1A (I322M)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GLikely pathogenic
Select item 1205	NM_000429.3(MAT1A):c.914T>C (p.Leu305Pro)	MAT1A (L305P)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GPathogenic
Select item 1206	NM_000429.3(MAT1A):c.826dup (p.Ala276fs)	MAT1A (A276fs)	Duplication (frameshift variant)	Hepatic methionine adenosyltransferase deficiency	GPathogenic
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 1210	NM_000429.3(MAT1A):c.790C>T (p.Arg264Cys)	MAT1A (R264C)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GPathogenic
Select item 977208	NM_000429.3(MAT1A):c.538_539insTG (p.Ser180fs)	MAT1A (S180fs)	Insertion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1203	NM_000429.3(MAT1A):c.164C>A (p.Ala55Asp)	MAT1A (A55D)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance