C0268621[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 228

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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	LOC126860980, MAT1A	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)	not provided +1 more	GLikely benign
Select item 879271	NM_000429.3(MAT1A):c.1085+15G>A	MAT1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 256103	NM_000429.3(MAT1A):c.1085+14C>T	MAT1A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 879272	NM_000429.3(MAT1A):c.1074C>T (p.Gly358=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GConflicting classifications of pathogenicity
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 834512	NM_000429.3(MAT1A):c.1066C>T (p.Arg356Trp)	MAT1A (R356W)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GPathogenic
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 879273	NM_000429.3(MAT1A):c.1059C>T (p.Phe353=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GConflicting classifications of pathogenicity
Select item 1969591	NM_000429.3(MAT1A):c.1042del (p.Val348fs)	MAT1A (V348fs)	Deletion (frameshift variant)	Hepatic methionine adenosyltransferase deficiency	GPathogenic
Select item 2010682	NM_000429.3(MAT1A):c.1041T>C (p.Asp347=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 1476710	NM_000429.3(MAT1A):c.1036C>A (p.Leu346Met)	MAT1A (L346M)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 1124566	NM_000429.3(MAT1A):c.1026G>A (p.Glu342=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 256102	NM_000429.3(MAT1A):c.1005C>T (p.Tyr335=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency +1 more	GBenign
Select item 1556555	NM_000429.3(MAT1A):c.1002C>T (p.Thr334=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 572062	NM_000429.3(MAT1A):c.983T>C (p.Leu328Pro)	MAT1A (L328P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 459971	NM_000429.3(MAT1A):c.981G>A (p.Pro327=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GConflicting classifications of pathogenicity
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 1583891	NM_000429.3(MAT1A):c.975C>T (p.Ala325=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 1004995	NM_000429.3(MAT1A):c.968G>A (p.Gly323Asp)	MAT1A (G323D)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	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 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 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 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 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 1968107	NM_000429.3(MAT1A):c.952-5G>A	MAT1A	Single nucleotide variant (intron 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 2068001	NM_000429.3(MAT1A):c.952-19C>T	MAT1A	Single nucleotide variant (intron variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
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 1651551	NM_000429.3(MAT1A):c.951+15C>A	MAT1A	Single nucleotide variant (intron variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 2031796	NM_000429.3(MAT1A):c.951+6C>A	MAT1A	Single nucleotide variant (intron variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 2064157	NM_000429.3(MAT1A):c.951+4A>G	MAT1A	Single nucleotide variant (intron variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 1957118	NM_000429.3(MAT1A):c.948C>T (p.Val316=)	MAT1A	Single nucleotide variant (synonymous 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 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 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 2091470	NM_000429.3(MAT1A):c.918G>C (p.Val306=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 858071	NM_000429.3(MAT1A):c.896G>A (p.Arg299His)	MAT1A (R299H)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GLikely pathogenic
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 529463	NM_000429.3(MAT1A):c.885A>T (p.Ala295=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GBenign
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 851162	NM_000429.3(MAT1A):c.875G>A (p.Arg292His)	MAT1A (R292H)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GConflicting classifications of pathogenicity
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 256106	NM_000429.3(MAT1A):c.870A>G (p.Val290=)	MAT1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1985561	NM_000429.3(MAT1A):c.868G>A (p.Val290Ile)	MAT1A (V290I)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 1895470	NM_000429.3(MAT1A):c.867G>A (p.Lys289=)	MAT1A	Single nucleotide variant (synonymous 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 2728280	NM_000429.3(MAT1A):c.852G>A (p.Gly284=)	MAT1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2040728	NM_000429.3(MAT1A):c.841G>A (p.Ala281Thr)	MAT1A (A281T)	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 1496491	NM_000429.3(MAT1A):c.839G>C (p.Gly280Ala)	MAT1A (G280A)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
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 661199	NM_000429.3(MAT1A):c.822G>T (p.Trp274Cys)	MAT1A (W274C)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 877694	NM_000429.3(MAT1A):c.816C>T (p.Gly272=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GConflicting classifications of pathogenicity
Select item 1392676	NM_000429.3(MAT1A):c.812A>G (p.Tyr271Cys)	MAT1A (Y271C)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 1208	NM_000429.3(MAT1A):c.791G>A (p.Arg264His)	MAT1A (R264H)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency +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 284366	NM_000429.3(MAT1A):c.789C>T (p.Gly263=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency +2 more	GBenign/Likely benign
Select item 738644	NM_000429.3(MAT1A):c.777G>A (p.Ala259=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
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 578314	NM_000429.3(MAT1A):c.773A>T (p.Asp258Val)	MAT1A (D258V)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GPathogenic
Select item 2742248	NC_000010.11:g.80275200del	MAT1A	Deletion	Hepatic methionine adenosyltransferase deficiency	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 529460	NM_000429.3(MAT1A):c.772G>A (p.Asp258Asn)	MAT1A (D258N)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 1509513	NM_000429.3(MAT1A):c.771G>T (p.Gly257=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	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 1985584	NM_000429.3(MAT1A):c.769-7T>C	MAT1A	Single nucleotide variant (intron variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
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 1962342	NM_000429.3(MAT1A):c.768+10T>G	MAT1A	Single nucleotide variant (intron variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
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 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 1036121	NM_000429.3(MAT1A):c.760G>A (p.Gly254Ser)	MAT1A (G254S)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
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 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 575881	NM_000429.3(MAT1A):c.745C>T (p.Arg249Trp)	MAT1A (R249W)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 1464393	NM_000429.3(MAT1A):c.741T>C (p.Ser247=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
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 2168765	NM_000429.3(MAT1A):c.720C>T (p.Thr240=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 431707	NM_000429.3(MAT1A):c.712G>A (p.Glu238Lys)	MAT1A (E238K)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GConflicting classifications of pathogenicity
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 2005287	NM_000429.3(MAT1A):c.705C>A (p.Tyr235Ter)	MAT1A (Y235*)	Single nucleotide variant (nonsense)	Hepatic methionine adenosyltransferase deficiency	GPathogenic
Select item 286783	NM_000429.3(MAT1A):c.705C>T (p.Tyr235=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1958862	NM_000429.3(MAT1A):c.701A>C (p.Lys234Thr)	MAT1A (K234T)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 1926374	NM_000429.3(MAT1A):c.697G>A (p.Ala233Thr)	MAT1A (A233T)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 529464	NM_000429.3(MAT1A):c.696G>A (p.Pro232=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency	GLikely benign
Select item 753915	NM_000429.3(MAT1A):c.687C>T (p.Ala229=)	MAT1A	Single nucleotide variant (synonymous variant)	Hepatic methionine adenosyltransferase deficiency +1 more	GLikely benign
Select item 1008331	NM_000429.3(MAT1A):c.683G>A (p.Arg228Lys)	MAT1A (R228K)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 1035026	NM_000429.3(MAT1A):c.681C>G (p.Ile227Met)	MAT1A (I227M)	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 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 574090	NM_000429.3(MAT1A):c.656G>T (p.Arg219Leu)	MAT1A (R219L)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 1331525	NM_000429.3(MAT1A):c.655C>T (p.Arg219Cys)	MAT1A (R219C)	Single nucleotide variant (missense variant)	Hepatic methionine adenosyltransferase deficiency +1 more	GUncertain significance

<< First< Prev

Page of 3