"GeneDx"[submitter] AND "L2HGDH"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1238644	NM_024884.3(L2HGDH):c.*97A>C	L2HGDH	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1233190	NM_024884.3(L2HGDH):c.1197-158T>C	L2HGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 158797	NM_024884.3(L2HGDH):c.1196+34C>T	L2HGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 489316	NM_024884.3(L2HGDH):c.1196+2T>G	L2HGDH	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 1268597	NM_024884.3(L2HGDH):c.906+28dup	L2HGDH	Duplication (intron variant)	not provided	GBenign
Select item 3367961	NM_024884.3(L2HGDH):c.887T>C (p.Val296Ala)	L2HGDH (V114A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 841222	NM_024884.3(L2HGDH):c.845G>A (p.Arg282Gln)	L2HGDH (R282Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 158802	NM_024884.3(L2HGDH):c.840A>G (p.Pro280=)	L2HGDH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 863865	NM_024884.3(L2HGDH):c.829C>T (p.Arg277Ter)	L2HGDH (R277*)	Single nucleotide variant (nonsense)	L-2-hydroxyglutaric aciduria +1 more	GPathogenic
Select item 432279	NM_024884.3(L2HGDH):c.802G>C (p.Glu268Gln)	L2HGDH (E268Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1288902	NM_024884.3(L2HGDH):c.738+114_738+115insGTAAAA	L2HGDH	Insertion (intron variant)	not provided	GBenign
Select item 452358	NM_024884.3(L2HGDH):c.553A>T (p.Ile185Phe)	L2HGDH (I185F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1243634	NM_024884.3(L2HGDH):c.541-28C>T	L2HGDH	Single nucleotide variant (intron variant)	not provided	GBenign
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 804979	NM_024884.3(L2HGDH):c.409-15dup	L2HGDH	Duplication (intron variant)	L-2-hydroxyglutaric aciduria +1 more	GBenign
Select item 1263021	NM_024884.3(L2HGDH):c.408+36A>G	L2HGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1612	NM_024884.3(L2HGDH):c.293A>G (p.His98Arg)	L2HGDH (H98R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1277329	NM_024884.3(L2HGDH):c.256+235G>A	L2HGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242825	NM_024884.3(L2HGDH):c.256+165C>A	L2HGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 379781	NM_024884.3(L2HGDH):c.256+1G>A	L2HGDH	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 580563	NM_024884.3(L2HGDH):c.208C>T (p.Arg70Ter)	L2HGDH (R70*)	Single nucleotide variant (nonsense)	L-2-hydroxyglutaric aciduria +1 more	GPathogenic
Select item 1294793	NM_024884.3(L2HGDH):c.141-133C>T	L2HGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264877	NM_024884.3(L2HGDH):c.141-166T>C	L2HGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 158799	NM_024884.3(L2HGDH):c.53T>G (p.Leu18Arg)	DMAC2L, L2HGDH (L18R)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria +2 more	GBenign/Likely benign

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Items: 27