LOC126860980[gene] - ClinVar

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Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 153276	GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1	ADIRF, ADIRF-AS1 +174 more	Copy number loss	See cases	GPathogenic
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 147367	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1	ADIRF, ADIRF-AS1 +166 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 155111	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87180672)x1	FAM25A, GHITM +168 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 57378	GRCh38/hg38 10q22.3-23.1(chr10:79882162-80327290)x1	ANXA11, LINC00857 +20 more	Copy number loss	See cases	GUncertain significance
Select item 33096	GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1	ADIRF, ADIRF-AS1 +163 more	Copy number loss	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 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 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 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 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 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 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 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 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 880410	NM_000429.3(MAT1A):c.*610G>C	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	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 301175	NM_000429.3(MAT1A):c.*569C>G	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GBenign
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 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 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 301176	NM_000429.3(MAT1A):c.*529G>A	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GBenign
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 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 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 301179	NM_000429.3(MAT1A):c.*299G>A	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GBenign
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 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 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 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 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 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 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 301184	NM_000429.3(MAT1A):c.*67C>T	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 878671	NM_000429.3(MAT1A):c.*19C>A	LOC126860980, MAT1A	Single nucleotide variant (3 prime UTR variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
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 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 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 2799290	NM_000429.3(MAT1A):c.1152G>A (p.Glu384=)	MAT1A, LOC126860980	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 2144098	NM_000429.3(MAT1A):c.1150G>A (p.Glu384Lys)	LOC126860980, MAT1A (E384K)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 772426	NM_000429.3(MAT1A):c.1140C>T (p.Phe380=)	LOC126860980, MAT1A	Single nucleotide variant (synonymous variant)	MAT1A-related condition +1 more	GLikely benign
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 256104	NM_000429.3(MAT1A):c.1131C>T (p.Tyr377=)	LOC126860980, MAT1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2079898	NM_000429.3(MAT1A):c.1086-1G>T	MAT1A, LOC126860980	Single nucleotide variant (splice acceptor variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
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 1664672	NM_000429.3(MAT1A):c.1086-19C>T	LOC126860980, MAT1A	Single nucleotide variant (intron variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 1223539	NM_000429.3(MAT1A):c.1086-44C>T	MAT1A, LOC126860980	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 53