ClinVar for MedGen (Select 1732562) - 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 3255019	NM_002489.4(NDUFA4):c.131+1G>A	NDUFA4	Single nucleotide variant (splice donor variant)	Mitochondrial complex 4 deficiency, nuclear type 21	GLikely pathogenic
Select item 2444066	NM_002489.4(NDUFA4):c.42+1del	NDUFA4	Deletion (splice donor variant)	Mitochondrial complex 4 deficiency, nuclear type 21	GPathogenic
Select item 977513	NM_002489.4(NDUFA4):c.42+1G>C	NDUFA4	Single nucleotide variant (splice donor variant)	Mitochondrial complex 4 deficiency, nuclear type 21	GPathogenic

Format

Sort by

Choose Destination