Related gene-specific medical variations for Gene (Select 7386) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2457838	NM_006003.3(UQCRFS1):c.125T>A (p.Val42Glu)	LOC130064117, UQCRFS1 (V42E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380543	NM_006003.3(UQCRFS1):c.151A>T (p.Ser51Cys)	LOC130064117, UQCRFS1 (S51C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2278050	NM_006003.3(UQCRFS1):c.5T>C (p.Leu2Ser)	LOC130064118, UQCRFS1 (L2S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684192	NM_006003.3(UQCRFS1):c.16T>G (p.Ser6Ala)	LOC130064118, UQCRFS1 (S6A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1684191	NM_006003.3(UQCRFS1):c.24A>G (p.Ser8=)	LOC130064118, UQCRFS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 816075	GRCh37/hg19 19q12(chr19:29118589-29791099)x3	UQCRFS1	Copy number gain	not provided	GUncertain significance
Select item 564593	GRCh37/hg19 19q12(chr19:29341513-29818674)x1	UQCRFS1	Copy number loss	not provided	GUncertain significance

ClinVar