"Centogene AG - the Rare Disease Company"[submitter] AND "L2HGDH"[gene - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1334028	NM_024884.3(L2HGDH):c.1199G>A (p.Gly400Asp)	L2HGDH (G400D)	Single nucleotide variant (missense variant)	L-2-hydroxyglutaric aciduria	GUncertain significance
Select item 973586	NM_024884.3(L2HGDH):c.1065-13_1196+207del	L2HGDH	Deletion (splice acceptor variant +1 more)	L-2-hydroxyglutaric aciduria	GPathogenic