"Sema4, Sema4"[submitter] AND "CPA1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1558794	NM_001868.4(CPA1):c.66-11A>T	CPA1	Single nucleotide variant (intron variant)	Hereditary pancreatitis +1 more	GConflicting classifications of pathogenicity
Select item 734818	NM_001868.4(CPA1):c.79C>T (p.Arg27Ter)	CPA1 (R27*)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely benign
Select item 821850	NM_001868.4(CPA1):c.281A>G (p.Gln94Arg)	CPA1 (Q94R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GConflicting classifications of pathogenicity
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 444731	NM_001868.4(CPA1):c.497G>A (p.Gly166Asp)	CPA1 (G166D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 746418	NM_001868.4(CPA1):c.621C>T (p.Thr207=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis +2 more	GBenign/Likely benign
Select item 1692650	NM_001868.4(CPA1):c.692G>A (p.Ser231Asn)	CPA1 (S231N)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1037474	NM_001868.4(CPA1):c.696+5C>T	CPA1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1692651	NM_001868.4(CPA1):c.696+6G>A	CPA1	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 1661056	NM_001868.4(CPA1):c.774C>T (p.Asp258=)	CPA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 258477	NM_001868.4(CPA1):c.788-5C>G	CPA1	Single nucleotide variant (intron 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)	Hereditary pancreatitis +2 more	GBenign/Likely benign
Select item 773497	NM_001868.4(CPA1):c.867T>C (p.Ile289=)	CPA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 822028	NM_001868.4(CPA1):c.1021G>A (p.Ala341Thr)	CPA1 (A341T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1692649	NM_001868.4(CPA1):c.1073-10C>T	CPA1	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GUncertain significance