"Genome-Nilou Lab"[submitter] AND "D2HGDH"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 158414	NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln)	D2HGDH, LOC129936032 (R55Q)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified +2 more	GBenign/Likely benign
Select item 158415	NM_152783.5(D2HGDH):c.292+28T>G	D2HGDH, LOC129936033	Single nucleotide variant (intron variant)	D-2-hydroxyglutaric aciduria 1 +1 more	GBenign
Select item 158417	NM_152783.5(D2HGDH):c.293-18A>G	D2HGDH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 158421	NM_152783.5(D2HGDH):c.490+40T>C	D2HGDH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 158423	NM_152783.5(D2HGDH):c.685-9T>C	D2HGDH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 158404	NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile)	D2HGDH (V338I +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 158411	NM_152783.5(D2HGDH):c.1307-24A>G	D2HGDH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

ClinVar