"Ambry Genetics"[submitter] AND "L2HGDH"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2466796	NM_024884.3(L2HGDH):c.1201C>G (p.Pro401Ala)	L2HGDH (P401A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 435690	NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala)	L2HGDH (T393A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 2231003	NM_024884.3(L2HGDH):c.1065-3C>T	L2HGDH	Single nucleotide variant (intron variant)	Inborn genetic diseases	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 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 1118087	NM_024884.3(L2HGDH):c.830G>A (p.Arg277Gln)	L2HGDH (R277Q)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria +1 more	GLikely benign
Select item 2236799	NM_024884.3(L2HGDH):c.793C>T (p.Arg265Cys)	L2HGDH (R265C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 579954	NM_024884.3(L2HGDH):c.586C>T (p.Arg196Trp)	L2HGDH (R196W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2208380	NM_024884.3(L2HGDH):c.571G>A (p.Gly191Ser)	L2HGDH (G191S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1401425	NM_024884.3(L2HGDH):c.547A>G (p.Met183Val)	L2HGDH (M183V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2332785	NM_024884.3(L2HGDH):c.484C>T (p.Pro162Ser)	L2HGDH (P162S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569607	NM_024884.3(L2HGDH):c.276T>A (p.His92Gln)	L2HGDH (H92Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1371882	NM_024884.3(L2HGDH):c.160G>A (p.Val54Ile)	L2HGDH (V54I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 576215	NM_024884.3(L2HGDH):c.70C>T (p.Pro24Ser)	DMAC2L, L2HGDH (P24S)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria +2 more	GConflicting classifications of pathogenicity