L2HGDH[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 1611	L2HGDH, EX1-9DEL	L2HGDH, LINC01588 +30 more	Deletion	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 58307	GRCh38/hg38 14q21.3-22.1(chr14:50091150-51777325)x3	ABHD12B, ATL1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 149334	GRCh38/hg38 14q21.3(chr14:50145165-50325850)x3	DMAC2L, L2HGDH +8 more	Copy number gain	See cases	GLikely benign
Select item 1694718	NC_000014.9:g.50237662GTT[1]	L2HGDH, LOC129390630	Microsatellite	not provided	GLikely benign
Select item 1238644	NM_024884.3(L2HGDH):c.*97A>C	L2HGDH	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1141344	NM_024884.3(L2HGDH):c.1383T>C (p.Phe461=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria	GLikely benign
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 1032202	NM_024884.3(L2HGDH):c.1376A>G (p.Gln459Arg)	L2HGDH (Q459R)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 849499	NM_024884.3(L2HGDH):c.1372C>A (p.Gln458Lys)	L2HGDH (Q458K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 791743	NM_024884.3(L2HGDH):c.1353A>G (p.Gly451=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria +1 more	GBenign
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 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 1461122	NM_024884.3(L2HGDH):c.1323del (p.Ala442fs)	L2HGDH (A442fs)	Deletion (frameshift variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
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 1434797	NM_024884.3(L2HGDH):c.1312G>A (p.Ala438Thr)	L2HGDH (A438T)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
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 1436029	NM_024884.3(L2HGDH):c.1285G>A (p.Gly429Arg)	L2HGDH (G429R)	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 1349354	NM_024884.3(L2HGDH):c.1271G>A (p.Gly424Glu)	L2HGDH (G424E)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 211346	NM_024884.3(L2HGDH):c.1269A>G (p.Ala423=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria +2 more	GConflicting classifications of pathogenicity
Select item 1044003	NM_024884.3(L2HGDH):c.1267G>A (p.Ala423Thr)	L2HGDH (A423T)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
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 1989115	NM_024884.3(L2HGDH):c.1230T>C (p.Asp410=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 211345	NM_024884.3(L2HGDH):c.1228G>A (p.Asp410Asn)	L2HGDH (D410N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 872978	NM_024884.3(L2HGDH):c.1213A>G (p.Arg405Gly)	L2HGDH (R405G)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1348688	NM_024884.3(L2HGDH):c.1210G>C (p.Val404Leu)	L2HGDH (V404L)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2466796	NM_024884.3(L2HGDH):c.1201C>G (p.Pro401Ala)	L2HGDH (P401A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1334028	NM_024884.3(L2HGDH):c.1199G>A (p.Gly400Asp)	L2HGDH (G400D)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2231428	NM_024884.3(L2HGDH):c.1197-2A>T	L2HGDH	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	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 1626486	NM_024884.3(L2HGDH):c.1197-20C>T	L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 1233190	NM_024884.3(L2HGDH):c.1197-158T>C	L2HGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 973586	NM_024884.3(L2HGDH):c.1065-13_1196+207del	L2HGDH	Deletion (splice acceptor variant +1 more)	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 158797	NM_024884.3(L2HGDH):c.1196+34C>T	L2HGDH	Single nucleotide variant (intron variant)	not provided	GBenign
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 489316	NM_024884.3(L2HGDH):c.1196+2T>G	L2HGDH	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1440410	NM_024884.3(L2HGDH):c.1187A>G (p.Asp396Gly)	L2HGDH (D396G)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 435690	NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala)	L2HGDH (T393A)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria +3 more	GConflicting classifications of pathogenicity
Select item 2559178	NM_024884.3(L2HGDH):c.1175T>C (p.Ile392Thr)	L2HGDH (I392T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 435698	NM_024884.3(L2HGDH):c.1174A>G (p.Ile392Val)	L2HGDH (I392V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 435691	NM_024884.3(L2HGDH):c.1155T>G (p.Leu385=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria +1 more	GConflicting classifications of pathogenicity
Select item 1506978	NM_024884.3(L2HGDH):c.1153C>T (p.Leu385Phe)	L2HGDH (L385F)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
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 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 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 1608	NM_024884.3(L2HGDH):c.1115del (p.Met372fs)	L2HGDH (M372fs)	Deletion (frameshift variant)	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 199173	NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys)	L2HGDH (Y367C)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria +3 more	GBenign/Likely benign
Select item 586107	NM_024884.3(L2HGDH):c.1099T>C (p.Tyr367His)	L2HGDH (Y367H)	Single nucleotide variant (missense variant)	not provided +1 more	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 2637446	NM_024884.3(L2HGDH):c.1081del (p.Ala361fs)	L2HGDH (A361fs)	Deletion (frameshift variant)	L-2-hydroxyglutaric aciduria	GPathogenic
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 2231003	NM_024884.3(L2HGDH):c.1065-3C>T	L2HGDH	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1626684	NM_024884.3(L2HGDH):c.1065-13dup	L2HGDH	Duplication (intron variant)	L-2-hydroxyglutaric aciduria	GBenign
Select item 1563191	NM_024884.3(L2HGDH):c.1065-14_1065-13del	L2HGDH	Deletion (intron variant)	L-2-hydroxyglutaric aciduria	GBenign
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 1234113	NM_024884.3(L2HGDH):c.1064+196del	L2HGDH	Deletion (intron variant)	not provided	GBenign
Select item 1260784	NM_024884.3(L2HGDH):c.1064+193A>C	L2HGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245317	NM_024884.3(L2HGDH):c.1064+189A>C	L2HGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020987	NM_024884.3(L2HGDH):c.1064+13_1064+16del	L2HGDH	Microsatellite (intron variant)	L-2-hydroxyglutaric aciduria	GLikely benign
Select item 1095963	NM_024884.3(L2HGDH):c.1064+5C>T	L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria +1 more	GLikely benign
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 435699	NM_024884.3(L2HGDH):c.1058T>C (p.Ile353Thr)	L2HGDH (I353T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551110	NM_024884.3(L2HGDH):c.1049A>G (p.Asp350Gly)	L2HGDH (D350G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1437078	NM_024884.3(L2HGDH):c.1047G>A (p.Met349Ile)	L2HGDH (M349I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 571395	NM_024884.3(L2HGDH):c.1032T>G (p.Ser344Arg)	L2HGDH (S344R)	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 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 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 435701	NM_024884.3(L2HGDH):c.1015del (p.Arg339fs)	L2HGDH (R339fs)	Deletion (frameshift variant)	L-2-hydroxyglutaric aciduria	GPathogenic
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 435692	NM_024884.3(L2HGDH):c.1004G>A (p.Arg335Gln)	L2HGDH (R335Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 30793	NM_024884.3(L2HGDH):c.1003C>T (p.Arg335Ter)	L2HGDH (R335*)	Single nucleotide variant (nonsense)	L-2-hydroxyglutaric aciduria	GPathogenic
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 746549	NM_024884.3(L2HGDH):c.987A>G (p.Ala329=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria +1 more	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 1299481	NM_024884.3(L2HGDH):c.959del (p.Asp320fs)	L2HGDH (D320fs)	Deletion (frameshift variant)	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 1484971	NM_024884.3(L2HGDH):c.949C>A (p.Pro317Thr)	L2HGDH (P317T)	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 1299226	NM_024884.3(L2HGDH):c.947C>T (p.Thr316Ile)	L2HGDH (T316I)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 2026101	NM_024884.3(L2HGDH):c.944del (p.Phe315fs)	L2HGDH (F315fs)	Deletion (frameshift variant)	L-2-hydroxyglutaric aciduria	GPathogenic
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 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 1510676	NM_024884.3(L2HGDH):c.919C>T (p.Arg307Trp)	L2HGDH (R307W)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1299403	NM_024884.3(L2HGDH):c.908T>A (p.Val303Asp)	L2HGDH (V303D)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
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 1268597	NM_024884.3(L2HGDH):c.906+28dup	L2HGDH	Duplication (intron variant)	not provided	GBenign
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 2181997	NM_024884.3(L2HGDH):c.906+7A>G	L2HGDH	Single nucleotide variant (intron 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 1609	NM_024884.3(L2HGDH):c.906+1G>T	L2HGDH	Single nucleotide variant (splice donor variant)	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 804980	NM_024884.3(L2HGDH):c.906G>A (p.Pro302=)	L2HGDH	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1607	NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu)	L2HGDH (P302L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1028352	NM_024884.3(L2HGDH):c.903T>G (p.Tyr301Ter)	L2HGDH (Y301*)	Single nucleotide variant (nonsense)	L-2-hydroxyglutaric aciduria	GPathogenic
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 1448939	NM_024884.3(L2HGDH):c.853del (p.Tyr285fs)	L2HGDH (Y285fs)	Deletion (frameshift variant)	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 1577220	NM_024884.3(L2HGDH):c.852T>C (p.Asp284=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria	GLikely benign

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