ClinVar for MedGen (Select 892640) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Links from MedGen

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 586969	NM_194436.3(LDHD):c.1319C>T (p.Thr440Met)	LDHD (T463M +1 more)	Single nucleotide variant (missense variant)	Lactic aciduria due to D-lactic acid	GLikely pathogenic
Select item 586968	NM_194436.3(LDHD):c.1053G>T (p.Trp351Cys)	LDHD (W374C +1 more)	Single nucleotide variant (missense variant)	Lactic aciduria due to D-lactic acid	GLikely pathogenic