"Ambry Genetics"[submitter] AND "CFAP96"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2527540	NM_018359.5(UFSP2):c.130A>G (p.Thr44Ala)	CFAP96, UFSP2 (T44A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398806	NM_001114357.3(CFAP96):c.167A>T (p.Asp56Val)	CFAP96 (D56V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233014	NM_001114357.3(CFAP96):c.513T>G (p.Asp171Glu)	CFAP96 (D171E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406127	NM_001114357.3(CFAP96):c.761C>G (p.Ser254Cys)	CFAP96 (S128C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373634	NM_001114357.3(CFAP96):c.853G>A (p.Glu285Lys)	CFAP96 (E159K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241249	NM_001114357.3(CFAP96):c.916G>C (p.Val306Leu)	CCDC110, CFAP96 (V306L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar