"GeneDx"[submitter] AND "MAT1A"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58748	GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 58751	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 59702	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3	SHLD2, SNCG +168 more	Copy number gain	See cases	GPathogenic
Select item 58757	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87109827)x1	LOC130004227, LOC130004228 +168 more	Copy number loss	See cases	GPathogenic
Select item 58755	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1	ADIRF, ADIRF-AS1 +175 more	Copy number loss	See cases	GPathogenic
Select item 58754	GRCh38/hg38 10q22.3-23.2(chr10:79898516-86964367)x1	ANXA11, BMPR1A +150 more	Copy number loss	See cases	GPathogenic
Select item 146022	GRCh38/hg38 10q22.3-23.2(chr10:79925613-86951708)x1	LINC00857, LINC00858 +147 more	Copy number loss	See cases	GPathogenic
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 256104	NM_000429.3(MAT1A):c.1131C>T (p.Tyr377=)	LOC126860980, MAT1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1223539	NM_000429.3(MAT1A):c.1086-44C>T	LOC126860980, MAT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288108	NM_000429.3(MAT1A):c.1085+15_1085+16del	MAT1A	Microsatellite (intron variant)	not provided	GBenign
Select item 256103	NM_000429.3(MAT1A):c.1085+14C>T	MAT1A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 2446538	NM_000429.3(MAT1A):c.1027C>T (p.Arg343Ter)	MAT1A (R343*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 372407	NM_000429.3(MAT1A):c.964A>T (p.Ile322Phe)	MAT1A (I322F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1228160	NM_000429.3(MAT1A):c.951+98T>C	MAT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 418870	NM_000429.3(MAT1A):c.895C>T (p.Arg299Cys)	MAT1A (R299C)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 256107	NM_000429.3(MAT1A):c.882T>C (p.Ala294=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency +2 more	GBenign
Select item 256106	NM_000429.3(MAT1A):c.870A>G (p.Val290=)	MAT1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1927181	NM_000429.3(MAT1A):c.829C>T (p.His277Tyr)	MAT1A (H277Y)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency +1 more	GConflicting classifications of pathogenicity
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 279845	NM_000429.3(MAT1A):c.776C>T (p.Ala259Val)	MAT1A (A259V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 647990	NM_000429.3(MAT1A):c.772G>T (p.Asp258Tyr)	MAT1A (D258Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1254634	NM_000429.3(MAT1A):c.769-195T>A	MAT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244211	NM_000429.3(MAT1A):c.769-218A>G	MAT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257538	NM_000429.3(MAT1A):c.768+209G>T	MAT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 378112	NM_000429.3(MAT1A):c.763C>T (p.Pro255Ser)	MAT1A (P255S)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 658943	NM_000429.3(MAT1A):c.757G>A (p.Gly253Arg)	MAT1A (G253R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 430021	NM_000429.3(MAT1A):c.740G>A (p.Ser247Asn)	MAT1A (S247N)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency +1 more	GUncertain significance
Select item 546205	NM_000429.3(MAT1A):c.721G>A (p.Val241Ile)	MAT1A (V241I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1452509	NM_000429.3(MAT1A):c.595C>T (p.Arg199Cys)	MAT1A (R199C)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1282373	NM_000429.3(MAT1A):c.550-47G>A	MAT1A	Single nucleotide variant (intron variant)	not provided	GBenign
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
Select item 503624	NM_000429.3(MAT1A):c.524G>A (p.Trp175Ter)	MAT1A (W175*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 256105	NM_000429.3(MAT1A):c.426T>C (p.Ala142=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency +2 more	GBenign
Select item 1178402	NM_000429.3(MAT1A):c.406-51C>T	MAT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231953	NM_000429.3(MAT1A):c.406-90G>A	MAT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222995	NM_000429.3(MAT1A):c.405+90T>C	MAT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 418289	NM_000429.3(MAT1A):c.319C>G (p.Leu107Val)	MAT1A (L107V)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency +1 more	GUncertain significance
Select item 1287609	NM_000429.3(MAT1A):c.293-54T>C	MAT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284085	NM_000429.3(MAT1A):c.293-54T>G	MAT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280790	NM_000429.3(MAT1A):c.293-104G>C	MAT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221516	NM_000429.3(MAT1A):c.292+246G>A	MAT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229238	NM_000429.3(MAT1A):c.292+96C>T	MAT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 431998	NM_000429.3(MAT1A):c.292G>A (p.Gly98Ser)	MAT1A (G98S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 301190	NM_000429.3(MAT1A):c.241C>T (p.Arg81Trp)	MAT1A (R81W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1290705	NM_000429.3(MAT1A):c.170-306A>C	MAT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271556	NM_000429.3(MAT1A):c.169+201_169+204del	MAT1A	Deletion (intron variant)	not provided	GBenign
Select item 1283538	NM_000429.3(MAT1A):c.169+122A>G	MAT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1723789	NM_000429.3(MAT1A):c.154G>A (p.Ala52Thr)	MAT1A (A52T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 256108	NM_000429.3(MAT1A):c.92-9C>G	MAT1A	Single nucleotide variant (intron variant)	Hepatic methionine adenosyltransferase deficiency +2 more	GBenign
Select item 1228690	NM_000429.3(MAT1A):c.92-254dup	MAT1A	Duplication (intron variant)	not provided	GBenign
Select item 1280037	NM_000429.3(MAT1A):c.91+111G>A	MAT1A	Single nucleotide variant (intron variant)	not provided	GBenign
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 301199	NM_000429.3(MAT1A):c.-90GAA[8]	LOC111982876, MAT1A	Microsatellite (5 prime UTR variant)	not provided +1 more	GBenign
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 1262908	NC_000010.11:g.80289847A>G	MAT1A	Single nucleotide variant	not provided	GBenign

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Items: 57