"GeneDx"[submitter] AND "CPA6"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 424361	NM_020361.5(CPA6):c.1028A>G (p.Asn343Ser)	ARFGEF1-DT, CPA6 (N343S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 363605	NM_020361.5(CPA6):c.932G>A (p.Arg311Gln)	ARFGEF1-DT, CPA6 (R311Q)	Single nucleotide variant (missense variant)	not provided +2 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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 424519	NM_020361.5(CPA6):c.733T>G (p.Phe245Val)	ARFGEF1-DT, CPA6 (F245V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423645	NM_020361.5(CPA6):c.707C>T (p.Pro236Leu)	ARFGEF1-DT, CPA6 (P236L)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11 +1 more	GUncertain significance
Select item 393467	NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)	CPA6 (Q207E)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity

ClinVar