"CPA1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 826117	NM_001868.4(CPA1):c.5G>A (p.Arg2Gln)	CPA1 (R2Q)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +2 more	GBenign/Likely benign
Select item 792090	NM_001868.4(CPA1):c.321C>T (p.Phe107=)	CPA1	Single nucleotide variant (synonymous variant)	CPA1-related disorder +2 more	GBenign
Select item 824121	NM_001868.4(CPA1):c.371C>T (p.Thr124Ile)	CPA1 (T124I)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +2 more	GBenign/Likely benign
Select item 755304	NM_001868.4(CPA1):c.492G>A (p.Thr164=)	CPA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 444731	NM_001868.4(CPA1):c.497G>A (p.Gly166Asp)	CPA1 (G166D)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +2 more	GConflicting classifications of pathogenicity
Select item 746418	NM_001868.4(CPA1):c.621C>T (p.Thr207=)	CPA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 746419	NM_001868.4(CPA1):c.816G>A (p.Ser272=)	CPA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1141612	NM_001868.4(CPA1):c.825C>T (p.Tyr275=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis +2 more	GLikely benign

ClinVar