"GeneDx"[submitter] AND "CPA1"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 1174262	NC_000007.14:g.130380075C>A	CPA1	Single nucleotide variant	not provided	GBenign
Select item 1181043	NC_000007.14:g.130380224C>T	CPA1	Single nucleotide variant	not provided	GBenign
Select item 1227485	NM_001868.4(CPA1):c.65+143A>G	CPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318063	NM_001868.4(CPA1):c.65+174C>T	CPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280890	NM_001868.4(CPA1):c.66-90G>A	CPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180207	NM_001868.4(CPA1):c.148-140C>T	CPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258474	NM_001868.4(CPA1):c.165G>C (p.Gly55=)	CPA1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1242586	NM_001868.4(CPA1):c.381+57T>C	CPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258475	NM_001868.4(CPA1):c.474C>T (p.Tyr158=)	CPA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1280728	NM_001868.4(CPA1):c.484-53A>G	CPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258476	NM_001868.4(CPA1):c.600C>T (p.Tyr200=)	CPA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 826258	NM_001868.4(CPA1):c.622G>A (p.Ala208Thr)	CPA1 (A208T)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GBenign/Likely benign
Select item 393084	NM_001868.4(CPA1):c.657C>G (p.Ile219Met)	CPA1 (I219M)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 1274508	NM_001868.4(CPA1):c.696+27del	CPA1	Deletion (intron variant)	not provided	GBenign
Select item 1244712	NM_001868.4(CPA1):c.697-260C>G	CPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249296	NM_001868.4(CPA1):c.697-63dup	CPA1	Duplication (intron variant)	not provided	GBenign
Select item 1236414	NM_001868.4(CPA1):c.697-64_697-63dup	CPA1	Duplication (intron variant)	not provided	GBenign
Select item 1268962	NM_001868.4(CPA1):c.787+234G>C	CPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 449568	NM_001868.4(CPA1):c.847G>A (p.Glu283Lys)	CPA1 (E283K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1279331	NM_001868.4(CPA1):c.987+182G>C	CPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1599896	NM_001868.4(CPA1):c.1072+16G>C	CPA1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1259346	NM_001868.4(CPA1):c.1072+131A>G	CPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273708	NM_001868.4(CPA1):c.1072+289G>C	CPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234134	NM_001868.4(CPA1):c.1073-32A>G	CPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1697997	NM_001868.4(CPA1):c.*16C>A	CPA1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1316979	NM_001868.4(CPA1):c.*97A>C	CPA1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1804543	NC_000007.14:g.130388311G>A	CPA1	Single nucleotide variant	not provided	GLikely benign

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Items: 28