"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "DMAC2L"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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

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