Related gene-specific medical variations for Gene (Select 374291) - ClinVar

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

Format

Sort by

Choose Destination

Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242709	NC_000019.9:g.(?_1390850)_(1391184_?)del	NDUFS7	Deletion	not provided	GPathogenic
Select item 2442036	NM_024407.5(NDUFS7):c.537C>A (p.Tyr179Ter)	NDUFS7 (Y179*)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 3	GLikely pathogenic
Select item 1218579	NM_024407.5(NDUFS7):c.16+80G>C	LOC130062942, NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign

Format

Sort by

Choose Destination