ClinVar for Gene (Select 4143) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339799	NM_000429.3(MAT1A):c.316G>A (p.Val106Met)	MAT1A (V106M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339798	NM_000429.3(MAT1A):c.695C>T (p.Pro232Leu)	MAT1A (P232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257698	NM_000429.3(MAT1A):c.90G>A (p.Pro30=)	MAT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3255557	NC_000010.11:g.80274654del	MAT1A	Deletion	Hepatic methionine adenosyltransferase deficiency	GLikely pathogenic
Select item 3251658	NM_000429.3(MAT1A):c.487C>T (p.Arg163Trp)	MAT1A (R163W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244819	NC_000010.10:g.(?_81697608)_(82049179_?)dup	ANXA11, MAT1A +3 more	Duplication	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 3244818	NC_000010.10:g.(?_81697608)_(82049179_?)del	ANXA11, MAT1A +3 more	Deletion	Hepatic methionine adenosyltransferase deficiency	GPathogenic
Select item 3047395	NM_000429.3(MAT1A):c.405+10C>G	MAT1A	Single nucleotide variant (intron variant)	MAT1A-related disorder	GLikely benign
Select item 3026572	NM_000429.3(MAT1A):c.666G>A (p.Leu222=)	MAT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016025	NM_000429.3(MAT1A):c.405+8G>A	MAT1A	Single nucleotide variant (intron variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
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 3004122	NM_000429.3(MAT1A):c.866A>G (p.Lys289Arg)	MAT1A (K289R)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2997629	NM_000429.3(MAT1A):c.303C>G (p.Phe101Leu)	MAT1A (F101L)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2994933	NM_000429.3(MAT1A):c.91+11T>G	MAT1A	Single nucleotide variant (intron variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 2980173	NM_000429.3(MAT1A):c.91+10C>T	MAT1A	Single nucleotide variant (intron variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 2975660	NM_000429.3(MAT1A):c.390G>C (p.Val130=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 2971768	NM_000429.3(MAT1A):c.925G>C (p.Gly309Arg)	MAT1A (G309R)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2961247	NM_000429.3(MAT1A):c.293-10T>G	MAT1A	Single nucleotide variant (intron variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2957164	NM_000429.3(MAT1A):c.422A>G (p.Tyr141Cys)	MAT1A (Y141C)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2907399	NM_000429.3(MAT1A):c.839G>T (p.Gly280Val)	MAT1A (G280V)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2903299	NM_000429.3(MAT1A):c.592G>A (p.Val198Met)	MAT1A (V198M)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2890281	NM_000429.3(MAT1A):c.21C>G (p.Gly7=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 2886956	NM_000429.3(MAT1A):c.630C>T (p.Asn210=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 2883721	NM_000429.3(MAT1A):c.1062C>T (p.Asp354=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 2882571	NM_000429.3(MAT1A):c.505C>T (p.Arg169Cys)	MAT1A (R169C)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2864608	NM_000429.3(MAT1A):c.311G>T (p.Cys104Phe)	MAT1A (C104F)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2855537	NM_000429.3(MAT1A):c.530G>C (p.Arg177Pro)	MAT1A (R177P)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2841978	NM_000429.3(MAT1A):c.768+2T>A	MAT1A	Single nucleotide variant (splice donor variant)	Hepatic methionine adenosyltransferase deficiency	GPathogenic
Select item 2839010	NM_000429.3(MAT1A):c.260T>A (p.Ile87Asn)	MAT1A (I87N)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GPathogenic
Select item 2836833	NM_000429.3(MAT1A):c.355C>T (p.Gln119Ter)	MAT1A (Q119*)	Single nucleotide variant (nonsense)	Hepatic methionine adenosyltransferase deficiency	GPathogenic
Select item 2832661	NM_000429.3(MAT1A):c.395C>A (p.Ala132Glu)	MAT1A (A132E)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2816792	NM_000429.3(MAT1A):c.959A>C (p.Tyr320Ser)	MAT1A (Y320S)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
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 2793162	NM_000429.3(MAT1A):c.637A>G (p.Ile213Val)	MAT1A (I213V)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2787752	NM_000429.3(MAT1A):c.926G>A (p.Gly309Glu)	MAT1A (G309E)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2782962	NM_000429.3(MAT1A):c.965T>C (p.Ile322Thr)	MAT1A (I322T)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2776073	NM_000429.3(MAT1A):c.659G>A (p.Arg220Lys)	MAT1A (R220K)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2773101	NM_000429.3(MAT1A):c.67G>C (p.Glu23Gln)	MAT1A (E23Q)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2745541	NM_000429.3(MAT1A):c.951+15C>G	MAT1A	Single nucleotide variant (intron variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 2742248	NC_000010.11:g.80275200del	MAT1A	Deletion	Hepatic methionine adenosyltransferase deficiency	GPathogenic
Select item 2735429	NM_000429.3(MAT1A):c.65C>T (p.Ser22Leu)	MAT1A (S22L)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2735428	NM_000429.3(MAT1A):c.271G>A (p.Gly91Ser)	MAT1A (G91S)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2735427	NM_000429.3(MAT1A):c.433G>A (p.Glu145Lys)	MAT1A (E145K)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2735426	NM_000429.3(MAT1A):c.755T>C (p.Ile252Thr)	MAT1A (I252T)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2735425	NM_000429.3(MAT1A):c.874C>T (p.Arg292Cys)	MAT1A (R292C)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GPathogenic/Likely pathogenic
Select item 2735423	NM_000429.3(MAT1A):c.964A>G (p.Ile322Val)	MAT1A (I322V)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2733306	NM_000429.3(MAT1A):c.768+20C>T	MAT1A	Single nucleotide variant (intron variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 2732413	NM_000429.3(MAT1A):c.547C>A (p.Gln183Lys)	MAT1A (Q183K)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2731460	NM_000429.3(MAT1A):c.976G>A (p.Glu326Lys)	MAT1A (E326K)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2728280	NM_000429.3(MAT1A):c.852G>A (p.Gly284=)	MAT1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2723454	NM_000429.3(MAT1A):c.571G>A (p.Asp191Asn)	MAT1A (D191N)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2712657	NM_000429.3(MAT1A):c.292+16C>T	MAT1A	Single nucleotide variant (intron variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 2704831	NM_000429.3(MAT1A):c.353C>G (p.Ala118Gly)	MAT1A (A118G)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
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 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2672404	NM_000429.3(MAT1A):c.436A>G (p.Thr146Ala)	MAT1A (T146A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664827	NM_000429.3(MAT1A):c.315C>A (p.Asn105Lys)	MAT1A (N105K)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2580310	GRCh37/hg19 10q22.3-23.2(chr10:81611360-89264122)x3	ADIRF, ADIRF-AS1 +33 more	Copy number gain	See cases	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2573407	NM_000429.3(MAT1A):c.934C>T (p.Arg312Trp)	MAT1A (R312W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485325	NM_000429.3(MAT1A):c.950A>G (p.Gln317Arg)	MAT1A (Q317R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477519	NM_000429.3(MAT1A):c.96G>T (p.Lys32Asn)	MAT1A (K32N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446538	NM_000429.3(MAT1A):c.1027C>T (p.Arg343Ter)	MAT1A (R343*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2433652	NM_000429.3(MAT1A):c.1003T>C (p.Tyr335His)	MAT1A (Y335H)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency +1 more	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 2430231	NM_000429.3(MAT1A):c.623A>C (p.Gln208Pro)	MAT1A (Q208P)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GLikely pathogenic
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 2429441	NM_000429.3(MAT1A):c.451C>A (p.Pro151Thr)	MAT1A (P151T)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2429440	NM_000429.3(MAT1A):c.470C>T (p.Ala157Val)	MAT1A (A157V)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2429439	NM_000429.3(MAT1A):c.76G>A (p.Gly26Arg)	MAT1A (G26R)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2429438	NM_000429.3(MAT1A):c.178T>C (p.Cys60Arg)	MAT1A (C60R)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2429437	NM_000429.3(MAT1A):c.887A>G (p.Tyr296Cys)	MAT1A (Y296C)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2429436	NM_000429.3(MAT1A):c.1067G>A (p.Arg356Gln)	MAT1A (R356Q)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2318630	NM_000429.3(MAT1A):c.145G>C (p.Asp49His)	MAT1A (D49H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316355	NM_000429.3(MAT1A):c.485C>G (p.Ala162Gly)	MAT1A (A162G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311557	NM_000429.3(MAT1A):c.567G>T (p.Met189Ile)	MAT1A (M189I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260462	NM_000429.3(MAT1A):c.257C>T (p.Thr86Ile)	MAT1A (T86I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201097	NM_000429.3(MAT1A):c.769G>A (p.Gly257Arg)	MAT1A (G257R)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2198408	NM_000429.3(MAT1A):c.418G>A (p.Gly140Ser)	MAT1A (G140S)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2195984	NM_000429.3(MAT1A):c.952-18G>A	MAT1A	Single nucleotide variant (intron variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 2194706	NM_000429.3(MAT1A):c.361G>A (p.Val121Ile)	MAT1A (V121I)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2182634	NM_000429.3(MAT1A):c.169+17C>T	MAT1A	Single nucleotide variant (intron variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 2168765	NM_000429.3(MAT1A):c.720C>T (p.Thr240=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 2164749	NM_000429.3(MAT1A):c.25T>C (p.Cys9Arg)	MAT1A (C9R)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2162846	NM_000429.3(MAT1A):c.169+13C>T	MAT1A	Single nucleotide variant (intron variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 2161123	NM_000429.3(MAT1A):c.935G>A (p.Arg312Gln)	MAT1A (R312Q)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2159645	NM_000429.3(MAT1A):c.665T>G (p.Leu222Arg)	MAT1A (L222R)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2150535	NM_000429.3(MAT1A):c.292+17G>A	MAT1A	Single nucleotide variant (intron 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 2139650	NM_000429.3(MAT1A):c.1083C>T (p.Val361=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 2139599	NM_000429.3(MAT1A):c.711C>T (p.Asp237=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 2128570	NM_000429.3(MAT1A):c.224C>A (p.Ala75Asp)	MAT1A (A75D)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2103029	NM_000429.3(MAT1A):c.125_131del (p.Leu42fs)	MAT1A (L42fs)	Deletion (frameshift variant)	Hepatic methionine adenosyltransferase deficiency	GPathogenic
Select item 2095994	NM_000429.3(MAT1A):c.35C>A (p.Ser12Tyr)	MAT1A (S12Y)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2091470	NM_000429.3(MAT1A):c.918G>C (p.Val306=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 2089920	NM_000429.3(MAT1A):c.155_156delinsTG (p.Ala52Val)	MAT1A (A52V)	Indel (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2087733	NM_000429.3(MAT1A):c.89C>T (p.Pro30Leu)	MAT1A (P30L)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2086601	NM_000429.3(MAT1A):c.169+11C>A	MAT1A	Single nucleotide variant (intron variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 2082436	NM_000429.3(MAT1A):c.110T>C (p.Ile37Thr)	MAT1A (I37T)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GPathogenic

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