ClinVar for MedGen (Select 115975) - 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 183336	NM_020247.5(COQ8A):c.1744dup (p.Ser582fs)	COQ8A (S582fs)	Duplication (frameshift variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GPathogenic
Select item 183294	NM_015046.7(SETX):c.5222dup (p.Asp1742fs)	SETX (D1742fs)	Duplication (frameshift variant)	not provided	GPathogenic