Related gene-specific medical variations for Gene (Select 4143) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3009330	NM_000429.3(MAT1A):c.1086-13G>A	LOC126860980, MAT1A	Single nucleotide variant (intron variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 2799290	NM_000429.3(MAT1A):c.1152G>A (p.Glu384=)	LOC126860980, MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
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 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 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 2144098	NM_000429.3(MAT1A):c.1150G>A (p.Glu384Lys)	LOC126860980, MAT1A (E384K)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency +2 more	GUncertain significance
Select item 2079898	NM_000429.3(MAT1A):c.1086-1G>T	LOC126860980, MAT1A	Single nucleotide variant (splice acceptor variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 1897642	NM_000429.3(MAT1A):c.1181T>C (p.Val394Ala)	LOC126860980, MAT1A (V394A)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 1664672	NM_000429.3(MAT1A):c.1086-19C>T	LOC126860980, MAT1A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1223539	NM_000429.3(MAT1A):c.1086-44C>T	LOC126860980, MAT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 994406	NM_000429.3(MAT1A):c.550-18C>G	MAT1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 880411	NM_000429.3(MAT1A):c.*604T>C	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 880410	NM_000429.3(MAT1A):c.*610G>C	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency +1 more	GUncertain significance
Select item 879270	NM_000429.3(MAT1A):c.*4C>G	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 879212	NM_000429.3(MAT1A):c.*831T>C	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 878671	NM_000429.3(MAT1A):c.*19C>A	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 878670	NM_000429.3(MAT1A):c.*68G>A	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 878669	NM_000429.3(MAT1A):c.*211G>A	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 878668	NM_000429.3(MAT1A):c.*275C>T	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GBenign
Select item 877651	NM_000429.3(MAT1A):c.*428G>T	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 877650	NM_000429.3(MAT1A):c.*542C>T	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 877649	NM_000429.3(MAT1A):c.*545A>G	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 877648	NM_000429.3(MAT1A):c.*553T>C	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 871406	NM_000429.3(MAT1A):c.1132G>A (p.Gly378Ser)	LOC126860980, MAT1A (G378S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 772426	NM_000429.3(MAT1A):c.1140C>T (p.Phe380=)	LOC126860980, MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 301205	NM_000429.3(MAT1A):c.-153C>T	LOC111982876, MAT1A	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 301204	NM_000429.3(MAT1A):c.-75G>A	LOC111982876, MAT1A	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 301203	NM_000429.3(MAT1A):c.-73A>G	LOC111982876, MAT1A	Single nucleotide variant (5 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency +1 more	GBenign
Select item 301202	NM_000429.3(MAT1A):c.-73_-72insGAAAAAA	MAT1A, LOC111982876	Insertion (5 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 301201	NM_000429.3(MAT1A):c.-73_-72insGAAAAA	LOC111982876, MAT1A	Insertion (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 301200	NM_000429.3(MAT1A):c.-90GAA[9]	LOC111982876, MAT1A	Microsatellite (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 301199	NM_000429.3(MAT1A):c.-90GAA[8]	LOC111982876, MAT1A	Microsatellite (5 prime UTR variant)	not provided +1 more	GBenign
Select item 301198	NM_000429.3(MAT1A):c.-90GAA[7]	LOC111982876, MAT1A	Microsatellite (5 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency +1 more	GUncertain significance
Select item 301197	NM_000429.3(MAT1A):c.-72A>G	LOC111982876, MAT1A	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 301184	NM_000429.3(MAT1A):c.*67C>T	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 301183	NM_000429.3(MAT1A):c.*84C>T	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 301182	NM_000429.3(MAT1A):c.*99A>T	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 301181	NM_000429.3(MAT1A):c.*121C>G	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 301180	NM_000429.3(MAT1A):c.*149T>C	MAT1A, LOC126860980	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 301179	NM_000429.3(MAT1A):c.*299G>A	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency +1 more	GBenign
Select item 301178	NM_000429.3(MAT1A):c.*414C>G	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 301177	NM_000429.3(MAT1A):c.*523T>C	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 301176	NM_000429.3(MAT1A):c.*529G>A	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GBenign
Select item 301175	NM_000429.3(MAT1A):c.*569C>G	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GBenign
Select item 301174	NM_000429.3(MAT1A):c.*657C>T	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 301173	NM_000429.3(MAT1A):c.*668G>A	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 301172	NM_000429.3(MAT1A):c.*727T>C	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 301171	NM_000429.3(MAT1A):c.*730C>T	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 301170	NM_000429.3(MAT1A):c.*736G>A	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 301169	NM_000429.3(MAT1A):c.*747C>T	MAT1A, LOC126860980	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 301168	NM_000429.3(MAT1A):c.*786A>T	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 256104	NM_000429.3(MAT1A):c.1131C>T (p.Tyr377=)	LOC126860980, MAT1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

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Links from Gene

Items: 52