C1855995[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1028352	NM_024884.3(L2HGDH):c.903T>G (p.Tyr301Ter)	L2HGDH (Y301*)	Single nucleotide variant (nonsense)	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 1028351	NM_024884.3(L2HGDH):c.833T>C (p.Ile278Thr)	L2HGDH (I278T)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 1028350	NM_024884.3(L2HGDH):c.408+14T>C	L2HGDH	Single nucleotide variant (intron variant)	L-2-hydroxyglutaric aciduria	GConflicting classifications of pathogenicity
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

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