CPA1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	LOC129999653, LOC129999654 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic
Select item 57379	GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3	AHCYL2, ATP6V1F +233 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	C7orf33, CALD1 +1176 more	Copy number gain	See cases	GPathogenic
Select item 146435	GRCh38/hg38 7q32.2(chr7:130282044-130490317)x1	CEP41, CPA1 +12 more	Copy number loss	See cases	GUncertain significance
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 1751013	NM_001868.4(CPA1):c.-5G>C	CPA1	Single nucleotide variant (5 prime UTR variant)	Hereditary pancreatitis	GUncertain significance
Select item 1784184	NM_001868.4(CPA1):c.-1C>G	CPA1	Single nucleotide variant (5 prime UTR variant)	Hereditary pancreatitis	GUncertain significance
Select item 1784221	NM_001868.4(CPA1):c.2_8delinsGCA (p.Met1fs)	CPA1 (M1fs)	Indel (frameshift variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 822535	NM_001868.4(CPA1):c.2T>C (p.Met1Thr)	CPA1 (M1T)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis +1 more	GConflicting classifications of pathogenicity
Select item 2743833	NM_001868.4(CPA1):c.3G>T (p.Met1Ile)	CPA1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1761610	NM_001868.4(CPA1):c.8_9dup (p.Leu4fs)	CPA1 (L4fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1000164	NM_001868.4(CPA1):c.4C>T (p.Arg2Trp)	CPA1 (R2W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2622184	NM_001868.4(CPA1):c.8G>T (p.Gly3Val)	CPA1 (G3V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1768941	NM_001868.4(CPA1):c.9G>T (p.Gly3=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis +1 more	GLikely benign
Select item 1768928	NM_001868.4(CPA1):c.9G>A (p.Gly3=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3221797	NM_001868.4(CPA1):c.10T>A (p.Leu4Met)	CPA1 (L4M)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2795000	NM_001868.4(CPA1):c.12G>A (p.Leu4=)	CPA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2496930	NM_001868.4(CPA1):c.14T>C (p.Leu5Pro)	CPA1 (L5P)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1776148	NM_001868.4(CPA1):c.15G>A (p.Leu5=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GUncertain significance
Select item 2448264	NM_001868.4(CPA1):c.17T>C (p.Val6Ala)	CPA1 (V6A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1784163	NM_001868.4(CPA1):c.19T>C (p.Leu7=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1366944	NM_001868.4(CPA1):c.23G>T (p.Ser8Ile)	CPA1 (S8I)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 1727624	NM_001868.4(CPA1):c.30G>C (p.Leu10=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1727616	NM_001868.4(CPA1):c.30G>A (p.Leu10=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1728798	NM_001868.4(CPA1):c.31T>C (p.Leu11=)	CPA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1731050	NM_001868.4(CPA1):c.33G>T (p.Leu11Phe)	CPA1 (L11F)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1673402	NM_001868.4(CPA1):c.36G>A (p.Gly12=)	CPA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1735047	NM_001868.4(CPA1):c.37G>A (p.Ala13Thr)	CPA1 (A13T)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1428734	NM_001868.4(CPA1):c.40G>C (p.Val14Leu)	CPA1 (V14L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 967318	NM_001868.4(CPA1):c.41T>C (p.Val14Ala)	CPA1 (V14A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1739525	NM_001868.4(CPA1):c.42C>T (p.Val14=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1739517	NM_001868.4(CPA1):c.42C>A (p.Val14=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2390059	NM_001868.4(CPA1):c.49A>C (p.Lys17Gln)	CPA1 (K17Q)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3221827	NM_001868.4(CPA1):c.51G>A (p.Lys17=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1481683	NM_001868.4(CPA1):c.52G>A (p.Glu18Lys)	CPA1 (E18K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3221830	NM_001868.4(CPA1):c.54G>C (p.Glu18Asp)	CPA1 (E18D)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1483086	NM_001868.4(CPA1):c.55G>T (p.Asp19Tyr)	CPA1 (D19Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1749744	NM_001868.4(CPA1):c.57C>T (p.Asp19=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1751623	NM_001868.4(CPA1):c.60T>C (p.Phe20=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3221836	NM_001868.4(CPA1):c.61G>C (p.Val21Leu)	CPA1 (V21L)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2860528	NM_001868.4(CPA1):c.65+1dup	CPA1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2625447	NM_001868.4(CPA1):c.63G>A (p.Val21=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3221842	NM_001868.4(CPA1):c.64G>C (p.Gly22Arg)	CPA1 (G22R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1753897	NM_001868.4(CPA1):c.64G>A (p.Gly22Arg)	CPA1 (G22R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1754412	NM_001868.4(CPA1):c.65G>C (p.Gly22Ala)	CPA1 (G22A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1147595	NM_001868.4(CPA1):c.65+3A>G	CPA1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 826453	NM_001868.4(CPA1):c.65+3del	CPA1	Deletion (intron variant)	Hereditary pancreatitis +1 more	GConflicting classifications of pathogenicity
Select item 1410925	NM_001868.4(CPA1):c.65+4G>A	CPA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1618334	NM_001868.4(CPA1):c.65+14G>A	CPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2153434	NM_001868.4(CPA1):c.66-3del	CPA1	Deletion (intron variant)	not provided	GLikely benign
Select item 1754623	NM_001868.4(CPA1):c.66-3C>T	CPA1	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GUncertain significance
Select item 3221846	NM_001868.4(CPA1):c.69T>C (p.His23=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1383505	NM_001868.4(CPA1):c.71A>T (p.Gln24Leu)	CPA1 (Q24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1759735	NM_001868.4(CPA1):c.75G>A (p.Val25=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1602695	NM_001868.4(CPA1):c.75G>C (p.Val25=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis +1 more	GLikely benign
Select item 1760202	NM_001868.4(CPA1):c.76C>G (p.Leu26Val)	CPA1 (L26V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1760694	NM_001868.4(CPA1):c.77T>G (p.Leu26Arg)	CPA1 (L26R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1761567	NM_001868.4(CPA1):c.79C>A (p.Arg27=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
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 1450747	NM_001868.4(CPA1):c.80G>A (p.Arg27Gln)	CPA1 (R27Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3221850	NM_001868.4(CPA1):c.84C>T (p.Ile28=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2448272	NM_001868.4(CPA1):c.84C>A (p.Ile28=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1056261	NM_001868.4(CPA1):c.86C>G (p.Ser29Cys)	CPA1 (S29C)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 1766484	NM_001868.4(CPA1):c.92C>T (p.Ala31Val)	CPA1 (A31V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1000402	NM_001868.4(CPA1):c.92C>G (p.Ala31Gly)	CPA1 (A31G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1616470	NM_001868.4(CPA1):c.93C>G (p.Ala31=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis +1 more	GLikely benign
Select item 1497652	NM_001868.4(CPA1):c.93C>T (p.Ala31=)	CPA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1767172	NM_001868.4(CPA1):c.94G>A (p.Asp32Asn)	CPA1 (D32N)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 3221855	NM_001868.4(CPA1):c.95A>G (p.Asp32Gly)	CPA1 (D32G)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GLikely benign
Select item 1767911	NM_001868.4(CPA1):c.96T>C (p.Asp32=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3221859	NM_001868.4(CPA1):c.99G>A (p.Glu33=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1754707	NM_001868.4(CPA1):c.101C>G (p.Ala34Gly)	CPA1 (A34G)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2622013	NM_001868.4(CPA1):c.102C>T (p.Ala34=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2109128	NM_001868.4(CPA1):c.115_123dup (p.Glu41_Leu42insValLysGlu)	CPA1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1404147	NM_001868.4(CPA1):c.114G>C (p.Lys38Asn)	CPA1 (K38N)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 1736341	NM_001868.4(CPA1):c.115G>A (p.Val39Met)	CPA1 (V39M)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3076503	NM_001868.4(CPA1):c.116T>C (p.Val39Ala)	CPA1 (V39A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2622147	NM_001868.4(CPA1):c.120G>A (p.Lys40=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1752743	NM_001868.4(CPA1):c.121G>A (p.Glu41Lys)	CPA1 (E41K)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1757932	NM_001868.4(CPA1):c.123G>A (p.Glu41=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1760329	NM_001868.4(CPA1):c.124C>G (p.Leu42Val)	CPA1 (L42V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3221811	NM_001868.4(CPA1):c.126G>A (p.Leu42=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1769627	NM_001868.4(CPA1):c.130G>A (p.Asp44Asn)	CPA1 (D44N)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 1001370	NM_001868.4(CPA1):c.131A>C (p.Asp44Ala)	CPA1 (D44A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1771016	NM_001868.4(CPA1):c.136G>A (p.Glu46Lys)	CPA1 (E46K)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 967294	NM_001868.4(CPA1):c.137A>T (p.Glu46Val)	CPA1 (E46V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1771727	NM_001868.4(CPA1):c.139C>T (p.His47Tyr)	CPA1 (H47Y)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1772468	NM_001868.4(CPA1):c.142del (p.Leu48fs)	CPA1 (L48fs)	Deletion (frameshift variant)	Hereditary pancreatitis	GLikely benign

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