"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "L2HGDH"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380190	NM_024884.3(L2HGDH):c.1283T>C (p.Ile428Thr)	L2HGDH (I246T +2 more)	Single nucleotide variant (missense variant)	not provided	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 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 3380191	NM_024884.3(L2HGDH):c.380A>G (p.Lys127Arg)	L2HGDH (K127R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 559238	NM_024884.3(L2HGDH):c.336A>G (p.Leu112=)	L2HGDH	Single nucleotide variant (synonymous variant)	L-2-hydroxyglutaric aciduria +1 more	GBenign/Likely benign
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 158798	NM_024884.3(L2HGDH):c.159C>T (p.Ile53=)	L2HGDH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
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 +1 more	GUncertain significance
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
Select item 559239	NM_024884.3(L2HGDH):c.8C>T (p.Pro3Leu)	DMAC2L, L2HGDH (P3L)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria +1 more	GConflicting classifications of pathogenicity
Select item 211349	NM_024884.3(L2HGDH):c.6G>T (p.Val2=)	DMAC2L, L2HGDH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign