ClinVar for MedGen (Select 341029) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 226

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243998	NC_000014.8:g.(?_50732056)_(50732227_?)del	L2HGDH	Deletion	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 3243997	NC_000014.8:g.(?_50734451)_(50734648_?)del	L2HGDH	Deletion	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 3238838	NM_024884.3(L2HGDH):c.169G>A (p.Gly57Arg)	L2HGDH (G20R +1 more)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 3069197	NM_024884.3(L2HGDH):c.569C>T (p.Thr190Ile)	L2HGDH (T153I +2 more)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 3064398	NM_024884.3(L2HGDH):c.140+1G>A	DMAC2L, L2HGDH	Single nucleotide variant (splice donor variant +1 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 3020987	NM_024884.3(L2HGDH):c.1064+13_1064+16del	L2HGDH	Microsatellite (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 3008803	NM_024884.3(L2HGDH):c.1065-2A>G	L2HGDH	Single nucleotide variant (splice acceptor variant)	L-2-hydroxyglutaric aciduria	GLikely pathogenic
Select item 2998651	NM_024884.3(L2HGDH):c.1064+1G>A	L2HGDH	Single nucleotide variant (splice donor variant)	L-2-hydroxyglutaric aciduria	GLikely pathogenic
Select item 2996687	NM_024884.3(L2HGDH):c.792C>G (p.Asp264Glu)	L2HGDH (D82E +2 more)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2993966	NM_024884.3(L2HGDH):c.207G>C (p.Leu69=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2974776	NM_024884.3(L2HGDH):c.378A>G (p.Gln126=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2920181	NM_024884.3(L2HGDH):c.928T>G (p.Phe310Val)	L2HGDH (F273V +2 more)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2899483	NM_024884.3(L2HGDH):c.168C>T (p.Gly56=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2894316	NM_024884.3(L2HGDH):c.735A>G (p.Thr245=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2886886	NM_024884.3(L2HGDH):c.537T>C (p.Cys179=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2850782	NM_024884.3(L2HGDH):c.1300C>G (p.His434Asp)	L2HGDH (H252D +2 more)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2844228	NM_024884.3(L2HGDH):c.264C>T (p.His88=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2816351	NM_024884.3(L2HGDH):c.738+16C>A	L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2809375	NM_024884.3(L2HGDH):c.1143A>G (p.Thr381=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2786953	NM_024884.3(L2HGDH):c.541-12A>C	L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2766149	NM_024884.3(L2HGDH):c.140+17C>G	DMAC2L, L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2736108	NM_024884.3(L2HGDH):c.446T>G (p.Leu149Arg)	L2HGDH (L112R +1 more)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2722793	NM_024884.3(L2HGDH):c.1276G>A (p.Gly426Arg)	L2HGDH (G244R +2 more)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2722751	NM_024884.3(L2HGDH):c.948A>G (p.Thr316=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2710133	NM_024884.3(L2HGDH):c.807G>A (p.Leu269=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2700736	NM_024884.3(L2HGDH):c.540+20A>G	L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2637446	NM_024884.3(L2HGDH):c.1081del (p.Ala361fs)	L2HGDH (A361fs)	Deletion (frameshift variant)	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 2627401	NM_024884.3(L2HGDH):c.1322C>T (p.Pro441Leu)	L2HGDH (P441L)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2585307	NM_024884.3(L2HGDH):c.895A>G (p.Asn299Asp)	L2HGDH (N299D)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2573619	NM_024884.3(L2HGDH):c.140+2_140+8del	DMAC2L, L2HGDH	Deletion (splice donor variant +1 more)	L-2-hydroxyglutaric aciduria	GLikely pathogenic
Select item 2500191	NM_024884.3(L2HGDH):c.632G>T (p.Gly211Val)	L2HGDH (G211V)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2430996	NM_024884.3(L2HGDH):c.530_533delinsATT (p.Pro177fs)	L2HGDH (P177fs)	Indel (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2426899	NC_000014.8:g.(?_50760813)_(50768906_?)del	L2HGDH	Deletion	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 2426898	NC_000014.8:g.(?_50750569)_(50750771_?)del	L2HGDH	Deletion	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 2420578	NM_024884.3(L2HGDH):c.1342G>C (p.Ala448Pro)	L2HGDH (A448P)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2413276	NM_024884.3(L2HGDH):c.256+3A>G	L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2201120	NM_024884.3(L2HGDH):c.184G>A (p.Ala62Thr)	L2HGDH (A62T)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2197342	NM_024884.3(L2HGDH):c.994G>A (p.Ala332Thr)	L2HGDH (A332T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2194589	NM_024884.3(L2HGDH):c.920G>A (p.Arg307Gln)	L2HGDH (R307Q)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2193998	NM_024884.3(L2HGDH):c.141-20A>C	L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2191332	NM_024884.3(L2HGDH):c.1018C>T (p.Pro340Ser)	L2HGDH (P340S)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2191032	NM_024884.3(L2HGDH):c.77C>T (p.Ala26Val)	DMAC2L, L2HGDH (A26V)	Single nucleotide variant (missense variant +2 more)	L-2-hydroxyglutaric aciduria +1 more	GUncertain significance
Select item 2187532	NM_024884.3(L2HGDH):c.1197-17A>T	L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2186987	NM_024884.3(L2HGDH):c.118G>A (p.Gly40Ser)	DMAC2L, L2HGDH (G40S)	Single nucleotide variant (missense variant +2 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2183982	NM_024884.3(L2HGDH):c.485C>T (p.Pro162Leu)	L2HGDH (P162L)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2182455	NM_024884.3(L2HGDH):c.1130T>C (p.Phe377Ser)	L2HGDH (F377S)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2181997	NM_024884.3(L2HGDH):c.906+7A>G	L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2181366	NM_024884.3(L2HGDH):c.906+18C>T	L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2163046	NM_024884.3(L2HGDH):c.803A>T (p.Glu268Val)	L2HGDH (E268V)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2156713	NM_024884.3(L2HGDH):c.68C>A (p.Ser23Tyr)	DMAC2L, L2HGDH (S23Y)	Single nucleotide variant (missense variant +2 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2152204	NM_024884.3(L2HGDH):c.178G>A (p.Gly60Arg)	L2HGDH (G60R)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 2148644	NM_024884.3(L2HGDH):c.845G>C (p.Arg282Pro)	L2HGDH (R282P)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2141747	NM_024884.3(L2HGDH):c.408+13del	L2HGDH	Deletion (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2137583	NM_024884.3(L2HGDH):c.241A>G (p.Lys81Glu)	L2HGDH (K81E)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 2137582	NM_024884.3(L2HGDH):c.751C>T (p.Arg251Ter)	L2HGDH (R251*)	Single nucleotide variant (nonsense)	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 2137580	NM_024884.3(L2HGDH):c.844C>T (p.Arg282Trp)	L2HGDH (R282W)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2137579	NM_024884.3(L2HGDH):c.1006G>A (p.Glu336Lys)	L2HGDH (E336K)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2133656	NM_024884.3(L2HGDH):c.522G>A (p.Lys174=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2114193	NM_024884.3(L2HGDH):c.1258G>A (p.Val420Ile)	L2HGDH (V420I)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2107403	NM_024884.3(L2HGDH):c.826C>T (p.Pro276Ser)	L2HGDH (P276S)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2098543	NM_024884.3(L2HGDH):c.408+15T>C	L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2086204	NM_024884.3(L2HGDH):c.256+2T>A	L2HGDH	Single nucleotide variant (splice donor variant)	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 2082282	NM_024884.3(L2HGDH):c.257-9G>C	L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2072693	NM_024884.3(L2HGDH):c.121A>G (p.Ser41Gly)	DMAC2L, L2HGDH (S41G)	Single nucleotide variant (missense variant +2 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2066432	NM_024884.3(L2HGDH):c.1196+20A>C	L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2063287	NM_024884.3(L2HGDH):c.226A>G (p.Ile76Val)	L2HGDH (I76V)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2063286	NM_024884.3(L2HGDH):c.1024G>A (p.Asp342Asn)	L2HGDH (D342N)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2050580	NM_024884.3(L2HGDH):c.540+19G>A	L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2043871	NM_024884.3(L2HGDH):c.1339A>G (p.Ile447Val)	L2HGDH (I447V)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2042967	NM_024884.3(L2HGDH):c.1065-14T>G	L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2029932	NM_024884.3(L2HGDH):c.408+7C>T	L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 2026101	NM_024884.3(L2HGDH):c.944del (p.Phe315fs)	L2HGDH (F315fs)	Deletion (frameshift variant)	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 1998377	NM_024884.3(L2HGDH):c.1379G>T (p.Arg460Ile)	L2HGDH (R460I)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1997010	NM_024884.3(L2HGDH):c.190G>C (p.Ala64Pro)	L2HGDH (A64P)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1991625	NM_024884.3(L2HGDH):c.140+3G>C	DMAC2L, L2HGDH	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1989115	NM_024884.3(L2HGDH):c.1230T>C (p.Asp410=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 1986364	NM_024884.3(L2HGDH):c.1200C>T (p.Gly400=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 1972520	NM_024884.3(L2HGDH):c.906+5G>T	L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1961520	NM_024884.3(L2HGDH):c.141-16T>A	L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1961428	NM_024884.3(L2HGDH):c.603A>G (p.Ser201=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 1956478	NM_024884.3(L2HGDH):c.688T>C (p.Ser230Pro)	L2HGDH (S230P)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1956295	NM_024884.3(L2HGDH):c.111G>A (p.Leu37=)	DMAC2L, L2HGDH	Single nucleotide variant (synonymous variant +2 more)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 1955990	NM_024884.3(L2HGDH):c.978G>T (p.Gly326=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 1949087	NM_024884.3(L2HGDH):c.739-12A>G	L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 1946161	NM_024884.3(L2HGDH):c.1118A>G (p.Tyr373Cys)	L2HGDH (Y373C)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1933338	NM_024884.3(L2HGDH):c.498G>C (p.Leu166=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 1918469	NM_024884.3(L2HGDH):c.405C>G (p.Gly135=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 1916678	NM_024884.3(L2HGDH):c.739-20_739-19del	L2HGDH	Deletion (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 1907571	NM_024884.3(L2HGDH):c.147T>G (p.Phe49Leu)	L2HGDH (F49L)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1906528	NM_024884.3(L2HGDH):c.122G>A (p.Ser41Asn)	DMAC2L, L2HGDH (S41N)	Single nucleotide variant (missense variant +2 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1896859	NM_024884.3(L2HGDH):c.781C>T (p.Leu261Phe)	L2HGDH (L261F)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1806111	NM_024884.3(L2HGDH):c.1031G>A (p.Ser344Asn)	L2HGDH (S344N)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1716915	NM_024884.3(L2HGDH):c.19T>C (p.Tyr7His)	DMAC2L, L2HGDH (Y7H)	Single nucleotide variant (missense variant +2 more)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1716639	NM_024884.3(L2HGDH):c.1082C>A (p.Ala361Glu)	L2HGDH (A361E)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1709367	NM_024884.3(L2HGDH):c.368A>G (p.Tyr123Cys)	L2HGDH (Y123C)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GLikely pathogenic
Select item 1672955	NM_024884.3(L2HGDH):c.90G>A (p.Ala30=)	DMAC2L, L2HGDH	Single nucleotide variant (synonymous variant +2 more)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 1639727	NM_024884.3(L2HGDH):c.907-13G>A	L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 1634847	NM_024884.3(L2HGDH):c.816C>T (p.Cys272=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 1626684	NM_024884.3(L2HGDH):c.1065-13dup	L2HGDH	Duplication (intron variant)	L-2-hydroxyglutaric aciduria	GBenign
Select item 1626486	NM_024884.3(L2HGDH):c.1197-20C>T	L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign

<< First< Prev

Page of 3