"Ambry Genetics"[submitter] AND "UQCRB"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2479376	NM_006294.5(UQCRB):c.251A>G (p.Tyr84Cys)	UQCRB (Y52C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2051106	NM_006294.5(UQCRB):c.178A>T (p.Met60Leu)	UQCRB (M60L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2551814	NM_006294.5(UQCRB):c.142A>T (p.Ile48Leu)	UQCRB (I16L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330027	NM_006294.5(UQCRB):c.112A>G (p.Ile38Val)	UQCRB (I6V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331169	NM_006294.5(UQCRB):c.77G>T (p.Gly26Val)	UQCRB (G26V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3331168	NM_006294.5(UQCRB):c.53G>A (p.Arg18Gln)	UQCRB (R18Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2330993	NM_006294.5(UQCRB):c.37T>C (p.Trp13Arg)	UQCRB (W13R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2458487	NM_006294.5(UQCRB):c.16G>T (p.Ala6Ser)	LOC130000789, UQCRB +1 more (A6S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance

ClinVar