"Fulgent Genetics, Fulgent Genetics"[submitter] AND "DLD"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 11966	NM_000108.5(DLD):c.685G>T (p.Gly229Cys)	DLD (G229C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 203681	NM_000108.5(DLD):c.788G>A (p.Arg263His)	DLD (R263H +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 203682	NM_000108.5(DLD):c.826A>T (p.Thr276Ser)	DLD (T276S +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency +1 more	GLikely benign
Select item 11971	NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)	DLD (E375K +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 738009	NM_000108.5(DLD):c.1500T>C (p.Ala500=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 557409	NM_000108.5(DLD):c.1528T>C (p.Ter510Arg)	DLD	Single nucleotide variant (stop lost)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance

ClinVar