"PreventionGenetics, part of Exact Sciences"[submitter] AND "DLD"[gene - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3032685	NM_000108.5(DLD):c.73C>T (p.Gln25Ter)	DLD (Q25*)	Single nucleotide variant (nonsense +1 more)	DLD-related disorder	GUncertain significance
Select item 255129	NM_000108.5(DLD):c.105C>T (p.Tyr35=)	DLD	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1085479	NM_000108.5(DLD):c.119-5C>T	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency +1 more	GLikely benign
Select item 761729	NM_000108.5(DLD):c.199-7G>T	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency +1 more	GLikely benign
Select item 137094	NM_000108.5(DLD):c.439-7T>C	DLD	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 2060355	NM_000108.5(DLD):c.581C>T (p.Thr194Met)	DLD (T95M +2 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3 deficiency +1 more	GUncertain significance
Select item 203682	NM_000108.5(DLD):c.826A>T (p.Thr276Ser)	DLD (T276S +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 716550	NM_000108.5(DLD):c.951C>G (p.Pro317=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency +1 more	GLikely benign
Select item 724857	NM_000108.5(DLD):c.1452T>C (p.Cys484=)	DLD	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 137102	NM_000108.5(DLD):c.*18A>T	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase complex deficiency +4 more	GBenign