"PreventionGenetics, part of Exact Sciences"[submitter] AND "CPA6"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3032183	NM_020361.5(CPA6):c.1037G>T (p.Cys346Phe)	ARFGEF1-DT, CPA6 (C346F)	Single nucleotide variant (missense variant)	CPA6-related disorder	GUncertain significance
Select item 444756	NM_020361.5(CPA6):c.1026C>G (p.Pro342=)	ARFGEF1-DT, CPA6	Single nucleotide variant (synonymous variant)	CPA6-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2267149	NM_020361.5(CPA6):c.831G>C (p.Lys277Asn)	ARFGEF1-DT, CPA6 (K277N)	Single nucleotide variant (missense variant)	CPA6-related disorder +1 more	GUncertain significance
Select item 30791	NM_020361.5(CPA6):c.809C>T (p.Ala270Val)	ARFGEF1-DT, CPA6 (A270V)	Single nucleotide variant (missense variant)	CPA6-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 281269	NM_020361.5(CPA6):c.799G>A (p.Gly267Arg)	ARFGEF1-DT, CPA6 (G267R)	Single nucleotide variant (missense variant)	CPA6-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 363615	NM_020361.5(CPA6):c.-11_-10del	CPA6	Deletion (5 prime UTR variant)	CPA6-related disorder +1 more	GConflicting classifications of pathogenicity

ClinVar