ClinVar for MedGen (Select 116056) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25651381.	NM_001379610.1(SPINK1):c.47G>T (p.Ser16Ile) GRCh37: Chr5:147211094 GRCh38: Chr5:147831531	SPINK1	S16I	Hereditary pancreatitis	Uncertain significance (Apr 7, 2023)	criteria provided, single submitter
Select item 25644332.	NM_007272.3(CTRC):c.205G>T (p.Val69Phe) GRCh37: Chr1:15767061 GRCh38: Chr1:15440565	CTRC	V69F	Hereditary pancreatitis	Uncertain significance (Jun 1, 2023)	criteria provided, single submitter
Select item 25644323.	NM_007272.3(CTRC):c.516G>A (p.Lys172=) GRCh37: Chr1:15771123 GRCh38: Chr1:15444628	CTRC		Hereditary pancreatitis	Likely benign (May 31, 2023)	criteria provided, single submitter
Select item 25644314.	NM_007272.3(CTRC):c.540G>C (p.Val180=) GRCh37: Chr1:15771147 GRCh38: Chr1:15444652	CTRC		Hereditary pancreatitis	Likely benign (May 21, 2023)	criteria provided, single submitter
Select item 25644305.	NM_007272.3(CTRC):c.192T>A (p.Ile64=) GRCh37: Chr1:15767048 GRCh38: Chr1:15440552	CTRC		Hereditary pancreatitis	Likely benign (May 12, 2023)	criteria provided, single submitter
Select item 25644296.	NM_007272.3(CTRC):c.226A>C (p.Ile76Leu) GRCh37: Chr1:15767082 GRCh38: Chr1:15440586	CTRC	I76L	Hereditary pancreatitis	Uncertain significance (Apr 24, 2023)	criteria provided, single submitter
Select item 25644287.	NM_007272.3(CTRC):c.801G>A (p.Gln267=) GRCh37: Chr1:15773078 GRCh38: Chr1:15446583	CTRC		Hereditary pancreatitis	Likely benign (Apr 23, 2023)	criteria provided, single submitter
Select item 25644278.	NM_007272.3(CTRC):c.406A>G (p.Thr136Ala) GRCh37: Chr1:15769963 GRCh38: Chr1:15443468	CTRC	T136A	Hereditary pancreatitis	Uncertain significance (Apr 16, 2023)	criteria provided, single submitter
Select item 25644269.	NM_007272.3(CTRC):c.308G>T (p.Gly103Val) GRCh37: Chr1:15769020 GRCh38: Chr1:15442524	CTRC	G103V	Hereditary pancreatitis	Uncertain significance (Apr 8, 2023)	criteria provided, single submitter
Select item 256442510.	NM_007272.3(CTRC):c.798G>C (p.Met266Ile) GRCh37: Chr1:15773075 GRCh38: Chr1:15446580	CTRC	M266I	Hereditary pancreatitis	Uncertain significance (Mar 22, 2023)	criteria provided, single submitter
Select item 256442411.	NM_007272.3(CTRC):c.64T>C (p.Phe22Leu) GRCh37: Chr1:15766819 GRCh38: Chr1:15440323	CTRC	F22L	Hereditary pancreatitis	Uncertain significance (Mar 22, 2023)	criteria provided, single submitter
Select item 256442212.	NM_007272.3(CTRC):c.73A>G (p.Asn25Asp) GRCh37: Chr1:15766828 GRCh38: Chr1:15440332	CTRC	N25D	Hereditary pancreatitis	Uncertain significance (Mar 18, 2023)	criteria provided, single submitter
Select item 256323413.	NM_001868.4(CPA1):c.595G>A (p.Asp199Asn) GRCh37: Chr7:130023534 GRCh38: Chr7:130383693	CPA1	D199N	Hereditary pancreatitis	Uncertain significance (Jun 8, 2023)	criteria provided, single submitter
Select item 256323314.	NM_001868.4(CPA1):c.933C>A (p.Leu311=) GRCh37: Chr7:130025132 GRCh38: Chr7:130385291	CPA1		Hereditary pancreatitis	Likely benign (Jun 8, 2023)	criteria provided, single submitter
Select item 256323215.	NM_001868.4(CPA1):c.626T>G (p.Ile209Ser) GRCh37: Chr7:130023565 GRCh38: Chr7:130383724	CPA1	I209S	Hereditary pancreatitis	Uncertain significance (May 29, 2023)	criteria provided, single submitter
Select item 256323116.	NM_001868.4(CPA1):c.741C>A (p.Leu247=) GRCh37: Chr7:130024421 GRCh38: Chr7:130384580	CPA1		Hereditary pancreatitis	Likely benign (May 26, 2023)	criteria provided, single submitter
Select item 256322917.	NM_001868.4(CPA1):c.265A>G (p.Met89Val) GRCh37: Chr7:130021588 GRCh38: Chr7:130381747	CPA1	M89V	Hereditary pancreatitis	Uncertain significance (May 15, 2023)	criteria provided, single submitter
Select item 256322818.	NM_001868.4(CPA1):c.423C>T (p.His141=) GRCh37: Chr7:130021990 GRCh38: Chr7:130382149	CPA1		Hereditary pancreatitis	Likely benign (May 15, 2023)	criteria provided, single submitter
Select item 256322719.	NM_001868.4(CPA1):c.463C>G (p.Arg155Gly) GRCh37: Chr7:130022030 GRCh38: Chr7:130382189	CPA1	R155G	Hereditary pancreatitis	Uncertain significance (May 5, 2023)	criteria provided, single submitter
Select item 256322620.	NM_001868.4(CPA1):c.395T>A (p.Leu132Gln) GRCh37: Chr7:130021962 GRCh38: Chr7:130382121	CPA1	L132Q	Hereditary pancreatitis	Uncertain significance (Apr 19, 2023)	criteria provided, single submitter
Select item 256322521.	NM_001868.4(CPA1):c.1103C>T (p.Thr368Ile) GRCh37: Chr7:130027695 GRCh38: Chr7:130387854	CPA1	T368I	Hereditary pancreatitis	Uncertain significance (Mar 30, 2023)	criteria provided, single submitter
Select item 256322422.	NM_001868.4(CPA1):c.376G>A (p.Glu126Lys) GRCh37: Chr7:130021699 GRCh38: Chr7:130381858	CPA1	E126K	Hereditary pancreatitis	Uncertain significance (Mar 20, 2023)	criteria provided, single submitter
Select item 256322323.	NM_001868.4(CPA1):c.1236G>A (p.Glu412=) GRCh37: Chr7:130027828 GRCh38: Chr7:130387987	CPA1		Hereditary pancreatitis	Likely benign (Mar 19, 2023)	criteria provided, single submitter
Select item 256322224.	NM_001868.4(CPA1):c.382-4T>A GRCh37: Chr7:130021945 GRCh38: Chr7:130382104	CPA1		Hereditary pancreatitis	Likely benign (Mar 28, 2023)	criteria provided, single submitter
Select item 256320025.	NM_002769.5(PRSS1):c.348T>G (p.Arg116=) GRCh37: Chr7:142459772 GRCh38: Chr7:142751921	PRSS1, TRB		Hereditary pancreatitis	Likely benign (Jun 14, 2023)	criteria provided, single submitter
Select item 256319926.	NM_002769.5(PRSS1):c.610G>C (p.Val204Leu) GRCh37: Chr7:142460737 GRCh38: Chr7:142752886	PRSS1, TRB	V204L	Hereditary pancreatitis	Uncertain significance (May 31, 2023)	criteria provided, single submitter
Select item 256319827.	NM_002769.5(PRSS1):c.326T>C (p.Met109Thr) GRCh37: Chr7:142459750 GRCh38: Chr7:142751899	PRSS1, TRB	M109T	Hereditary pancreatitis	Uncertain significance (May 28, 2023)	criteria provided, single submitter
Select item 256319728.	NM_002769.5(PRSS1):c.30G>T (p.Val10=) GRCh37: Chr7:142457365 GRCh38: Chr7:142749514	PRSS1, TRB		Hereditary pancreatitis	Likely benign (May 27, 2023)	criteria provided, single submitter
Select item 256319629.	NM_002769.5(PRSS1):c.332T>A (p.Ile111Asn) GRCh37: Chr7:142459756 GRCh38: Chr7:142751905	PRSS1, TRB	I111N	Hereditary pancreatitis	Uncertain significance (May 21, 2023)	criteria provided, single submitter
Select item 256319530.	NM_002769.5(PRSS1):c.706G>A (p.Val236Met) GRCh37: Chr7:142460833 GRCh38: Chr7:142752982	PRSS1, TRB	V236M	Hereditary pancreatitis	Uncertain significance (May 11, 2023)	criteria provided, single submitter
Select item 256319431.	NM_002769.5(PRSS1):c.602G>T (p.Gly201Val) GRCh37: Chr7:142460729 GRCh38: Chr7:142752878	PRSS1, TRB	G201V	Hereditary pancreatitis	Uncertain significance (May 4, 2023)	criteria provided, single submitter
Select item 256319332.	NM_002769.5(PRSS1):c.326T>A (p.Met109Lys) GRCh37: Chr7:142459750 GRCh38: Chr7:142751899	PRSS1, TRB	M109K	Hereditary pancreatitis	Uncertain significance (Apr 28, 2023)	criteria provided, single submitter
Select item 256319233.	NM_002769.5(PRSS1):c.428G>T (p.Gly143Val) GRCh37: Chr7:142459852 GRCh38: Chr7:142752001	PRSS1, TRB	G143V	Hereditary pancreatitis	Uncertain significance (Apr 11, 2023)	criteria provided, single submitter
Select item 256319134.	NM_002769.5(PRSS1):c.593G>A (p.Gly198Asp) GRCh37: Chr7:142460720 GRCh38: Chr7:142752869	PRSS1, TRB	G198D	Hereditary pancreatitis	Uncertain significance (Apr 7, 2023)	criteria provided, single submitter
Select item 256319035.	NM_002769.5(PRSS1):c.633A>G (p.Gln211=) GRCh37: Chr7:142460760 GRCh38: Chr7:142752909	PRSS1, TRB		Hereditary pancreatitis	Likely benign (Apr 5, 2023)	criteria provided, single submitter
Select item 256318936.	NM_002769.5(PRSS1):c.125A>G (p.Asn42Ser) GRCh37: Chr7:142458490 GRCh38: Chr7:142750639	PRSS1, TRB	N42S	Hereditary pancreatitis	Uncertain significance (Apr 18, 2023)	criteria provided, single submitter
Select item 256318837.	NM_002769.5(PRSS1):c.586T>C (p.Cys196Arg) GRCh37: Chr7:142460413 GRCh38: Chr7:142752562	PRSS1, TRB	C196R	Hereditary pancreatitis	Uncertain significance (Mar 25, 2023)	criteria provided, single submitter
Select item 256318738.	NM_002769.5(PRSS1):c.407G>T (p.Gly136Val) GRCh37: Chr7:142459831 GRCh38: Chr7:142751980	PRSS1, TRB	G136V	Hereditary pancreatitis	Uncertain significance (Mar 24, 2023)	criteria provided, single submitter
Select item 256318639.	NM_002769.5(PRSS1):c.406G>T (p.Gly136Cys) GRCh37: Chr7:142459830 GRCh38: Chr7:142751979	PRSS1, TRB	G136C	Hereditary pancreatitis	Uncertain significance (Mar 24, 2023)	criteria provided, single submitter
Select item 256204440.	NM_001379610.1(SPINK1):c.155A>G (p.Asn52Ser) GRCh37: Chr5:147207624 GRCh38: Chr5:147828061	SPINK1	N52S	Hereditary pancreatitis	Uncertain significance (Apr 8, 2023)	criteria provided, single submitter
Select item 256204341.	NM_001379610.1(SPINK1):c.236G>A (p.Cys79Tyr) GRCh37: Chr5:147204228 GRCh38: Chr5:147824665	SPINK1	C79Y	Hereditary pancreatitis	Uncertain significance (Apr 3, 2023)	criteria provided, single submitter
Select item 256188842.	NM_007272.3(CTRC):c.776T>C (p.Ile259Thr) GRCh37: Chr1:15772228 GRCh38: Chr1:15445733	CTRC	I259T	Hereditary pancreatitis	Uncertain significance (Mar 19, 2023)	criteria provided, single submitter
Select item 256188743.	NM_007272.3(CTRC):c.520C>T (p.Gln174Ter) GRCh37: Chr1:15771127 GRCh38: Chr1:15444632	CTRC	Q174*	Hereditary pancreatitis	Pathogenic (Apr 5, 2023)	criteria provided, single submitter
Select item 256188544.	NM_007272.3(CTRC):c.221A>G (p.His74Arg) GRCh37: Chr1:15767077 GRCh38: Chr1:15440581	CTRC	H74R	Hereditary pancreatitis	Uncertain significance (Apr 1, 2023)	criteria provided, single submitter
Select item 256188445.	NM_007272.3(CTRC):c.493+3_493+6del GRCh37: Chr1:15770049-15770052 GRCh38: Chr1:15443554-15443557	CTRC		Hereditary pancreatitis	Uncertain significance (Apr 24, 2023)	criteria provided, single submitter
Select item 256160346.	NM_001868.4(CPA1):c.1164C>T (p.Gly388=) GRCh37: Chr7:130027756 GRCh38: Chr7:130387915	CPA1		Hereditary pancreatitis	Likely benign (Mar 25, 2023)	criteria provided, single submitter
Select item 256160247.	NM_001868.4(CPA1):c.730G>A (p.Ala244Thr) GRCh37: Chr7:130024410 GRCh38: Chr7:130384569	CPA1	A244T	Hereditary pancreatitis	Uncertain significance (Jun 8, 2023)	criteria provided, single submitter
Select item 256160148.	NM_001868.4(CPA1):c.539C>T (p.Ser180Phe) GRCh37: Chr7:130023287 GRCh38: Chr7:130383446	CPA1	S180F	Hereditary pancreatitis	Uncertain significance (Mar 30, 2023)	criteria provided, single submitter
Select item 256159949.	NM_001868.4(CPA1):c.629T>A (p.Leu210His) GRCh37: Chr7:130023568 GRCh38: Chr7:130383727	CPA1	L210H	Hereditary pancreatitis	Uncertain significance (Mar 30, 2023)	criteria provided, single submitter
Select item 256159850.	NM_001868.4(CPA1):c.868G>T (p.Val290Leu) GRCh37: Chr7:130025067 GRCh38: Chr7:130385226	CPA1	V290L	Hereditary pancreatitis	Uncertain significance (May 4, 2023)	criteria provided, single submitter
Select item 256159751.	NM_001868.4(CPA1):c.285G>A (p.Ser95=) GRCh37: Chr7:130021608 GRCh38: Chr7:130381767	CPA1		Hereditary pancreatitis	Likely benign (May 15, 2023)	criteria provided, single submitter
Select item 256159552.	NM_001868.4(CPA1):c.471T>C (p.Ile157=) GRCh37: Chr7:130022038 GRCh38: Chr7:130382197	CPA1		Hereditary pancreatitis	Likely benign (May 8, 2023)	criteria provided, single submitter
Select item 256159353.	NM_002769.5(PRSS1):c.680G>C (p.Gly227Ala) GRCh37: Chr7:142460807 GRCh38: Chr7:142752956	PRSS1, TRB	G227A	Hereditary pancreatitis	Uncertain significance (Mar 31, 2023)	criteria provided, single submitter
Select item 256159154.	NM_002769.5(PRSS1):c.220G>A (p.Gly74Arg) GRCh37: Chr7:142459644 GRCh38: Chr7:142751793	PRSS1, TRB	G74R	Hereditary pancreatitis	Uncertain significance (Apr 7, 2023)	criteria provided, single submitter
Select item 256159055.	NM_002769.5(PRSS1):c.695T>G (p.Val232Gly) GRCh37: Chr7:142460822 GRCh38: Chr7:142752971	PRSS1, TRB	V232G	Hereditary pancreatitis	Uncertain significance (Apr 30, 2023)	criteria provided, single submitter
Select item 256158956.	NM_002769.5(PRSS1):c.628C>G (p.Leu210Val) GRCh37: Chr7:142460755 GRCh38: Chr7:142752904	PRSS1, TRB	L210V	Hereditary pancreatitis	Uncertain significance (Mar 31, 2023)	criteria provided, single submitter
Select item 256158857.	NM_002769.5(PRSS1):c.345A>G (p.Ser115=) GRCh37: Chr7:142459769 GRCh38: Chr7:142751918	PRSS1, TRB		Hereditary pancreatitis	Likely benign (Jun 8, 2023)	criteria provided, single submitter
Select item 256044458.	NM_002769.5(PRSS1):c.527del (p.Pro176fs) GRCh37: Chr7:142460352 GRCh38: Chr7:142752501	PRSS1, TRB	P176fs	Hereditary pancreatitis	Uncertain significance (May 23, 2023)	criteria provided, single submitter
Select item 249759259.	NM_001379610.1(SPINK1):c.9A>C (p.Val3=) GRCh37: Chr5:147211132 GRCh38: Chr5:147831569	SPINK1		Hereditary pancreatitis	Likely benign (Mar 2, 2023)	criteria provided, single submitter
Select item 249759160.	NM_001379610.1(SPINK1):c.105A>T (p.Glu35Asp) GRCh37: Chr5:147207674 GRCh38: Chr5:147828111	SPINK1	E35D	Hereditary pancreatitis	Uncertain significance (Dec 6, 2022)	criteria provided, single submitter
Select item 249752661.	NM_002769.5(PRSS1):c.16A>G (p.Ile6Val) GRCh37: Chr7:142457351 GRCh38: Chr7:142749500	PRSS1, TRB	I6V	Hereditary pancreatitis	Uncertain significance (Mar 3, 2023)	criteria provided, single submitter
Select item 249749562.	NM_002769.5(PRSS1):c.654T>C (p.Asp218=) GRCh37: Chr7:142460781 GRCh38: Chr7:142752930	PRSS1, TRB		Hereditary pancreatitis	Likely benign (Jan 8, 2023)	criteria provided, single submitter
Select item 249748563.	NM_002769.5(PRSS1):c.593G>T (p.Gly198Val) GRCh37: Chr7:142460720 GRCh38: Chr7:142752869	PRSS1, TRB	G198V	Hereditary pancreatitis	Uncertain significance (Mar 2, 2023)	criteria provided, single submitter
Select item 249747564.	NM_002769.5(PRSS1):c.346C>A (p.Arg116Ser) GRCh37: Chr7:142459770 GRCh38: Chr7:142751919	PRSS1, TRB	R116S	Hereditary pancreatitis	Uncertain significance (Mar 10, 2023)	criteria provided, single submitter
Select item 249745965.	NM_002769.5(PRSS1):c.454+3G>A GRCh37: Chr7:142459881 GRCh38: Chr7:142752030	PRSS1, TRB		Hereditary pancreatitis	Uncertain significance (Feb 24, 2023)	criteria provided, single submitter
Select item 249744966.	NM_002769.5(PRSS1):c.463C>A (p.Pro155Thr) GRCh37: Chr7:142460290 GRCh38: Chr7:142752439	TRB, PRSS1	P155T	Hereditary pancreatitis	Uncertain significance (Jan 1, 2023)	criteria provided, single submitter
Select item 249744467.	NM_002769.5(PRSS1):c.50C>A (p.Pro17His) GRCh37: Chr7:142458415 GRCh38: Chr7:142750564	PRSS1, TRB	P17H	Hereditary pancreatitis, not specified	Uncertain significance (May 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 249743868.	NM_002769.5(PRSS1):c.74T>C (p.Val25Ala) GRCh37: Chr7:142458439 GRCh38: Chr7:142750588	PRSS1, TRB	V25A	Hereditary pancreatitis	Uncertain significance (Feb 6, 2023)	criteria provided, single submitter
Select item 249735369.	NM_007272.3(CTRC):c.344C>T (p.Ala115Val) GRCh37: Chr1:15769056 GRCh38: Chr1:15442560	CTRC	A115V	Hereditary pancreatitis	Uncertain significance (Mar 11, 2023)	criteria provided, single submitter
Select item 249735270.	NM_007272.3(CTRC):c.600G>C (p.Met200Ile) GRCh37: Chr1:15771207 GRCh38: Chr1:15444712	CTRC	M200I	Hereditary pancreatitis	Uncertain significance (Dec 5, 2022)	criteria provided, single submitter
Select item 249735171.	NM_007272.3(CTRC):c.639+2T>A GRCh37: Chr1:15771248 GRCh38: Chr1:15444753	CTRC		Hereditary pancreatitis	Uncertain significance (Nov 20, 2022)	criteria provided, single submitter
Select item 249735072.	NM_007272.3(CTRC):c.224G>A (p.Cys75Tyr) GRCh37: Chr1:15767080 GRCh38: Chr1:15440584	CTRC	C75Y	Hereditary pancreatitis	Uncertain significance (Jan 16, 2023)	criteria provided, single submitter
Select item 249734973.	NM_007272.3(CTRC):c.137C>T (p.Ser46Phe) GRCh37: Chr1:15766993 GRCh38: Chr1:15440497	CTRC	S46F	Hereditary pancreatitis	Uncertain significance (Feb 28, 2023)	criteria provided, single submitter
Select item 249734874.	NM_007272.3(CTRC):c.329A>G (p.His110Arg) GRCh37: Chr1:15769041 GRCh38: Chr1:15442545	CTRC	H110R	Hereditary pancreatitis	Uncertain significance (Dec 9, 2022)	criteria provided, single submitter
Select item 249734775.	NM_007272.3(CTRC):c.89T>C (p.Val30Ala) GRCh37: Chr1:15766844 GRCh38: Chr1:15440348	CTRC	V30A	Hereditary pancreatitis	Uncertain significance (Mar 13, 2023)	criteria provided, single submitter
Select item 249734576.	NM_007272.3(CTRC):c.647C>T (p.Ser216Phe) GRCh37: Chr1:15772099 GRCh38: Chr1:15445604	CTRC	S216F	Hereditary pancreatitis	Uncertain significance (Dec 11, 2022)	criteria provided, single submitter
Select item 249734477.	NM_007272.3(CTRC):c.447C>T (p.Leu149=) GRCh37: Chr1:15770004 GRCh38: Chr1:15443509	CTRC		Hereditary pancreatitis	Likely benign (Nov 23, 2022)	criteria provided, single submitter
Select item 249734378.	NM_007272.3(CTRC):c.510T>C (p.Ala170=) GRCh37: Chr1:15771117 GRCh38: Chr1:15444622	CTRC		Hereditary pancreatitis	Likely benign (Jan 5, 2023)	criteria provided, single submitter
Select item 249734279.	NM_007272.3(CTRC):c.539T>C (p.Val180Ala) GRCh37: Chr1:15771146 GRCh38: Chr1:15444651	CTRC	V180A	Hereditary pancreatitis	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 249693080.	NM_001868.4(CPA1):c.14T>C (p.Leu5Pro) GRCh37: Chr7:130020375 GRCh38: Chr7:130380534	CPA1	L5P	Hereditary pancreatitis	Uncertain significance (Feb 27, 2023)	criteria provided, single submitter
Select item 249692981.	NM_001868.4(CPA1):c.368A>G (p.His123Arg) GRCh37: Chr7:130021691 GRCh38: Chr7:130381850	CPA1	H123R	Hereditary pancreatitis	Uncertain significance (Nov 15, 2022)	criteria provided, single submitter
Select item 249692882.	NM_001868.4(CPA1):c.895A>T (p.Ile299Phe) GRCh37: Chr7:130025094 GRCh38: Chr7:130385253	CPA1	I299F	Hereditary pancreatitis	Uncertain significance (Jan 5, 2023)	criteria provided, single submitter
Select item 249692783.	NM_001868.4(CPA1):c.989A>T (p.Asp330Val) GRCh37: Chr7:130025681 GRCh38: Chr7:130385840	CPA1	D330V	Hereditary pancreatitis	Uncertain significance (Mar 11, 2023)	criteria provided, single submitter
Select item 249692584.	NM_001868.4(CPA1):c.865A>T (p.Ile289Phe) GRCh37: Chr7:130025064 GRCh38: Chr7:130385223	CPA1	I289F	Hereditary pancreatitis	Uncertain significance (Dec 25, 2022)	criteria provided, single submitter
Select item 249692485.	NM_001868.4(CPA1):c.164G>A (p.Gly55Glu) GRCh37: Chr7:130021487 GRCh38: Chr7:130381646	CPA1	G55E	Hereditary pancreatitis	Uncertain significance (Feb 24, 2023)	criteria provided, single submitter
Select item 249692386.	NM_001868.4(CPA1):c.297G>A (p.Glu99=) GRCh37: Chr7:130021620 GRCh38: Chr7:130381779	CPA1		Hereditary pancreatitis	Likely benign (Feb 16, 2023)	criteria provided, single submitter
Select item 249692287.	NM_001868.4(CPA1):c.1158C>T (p.Arg386=) GRCh37: Chr7:130027750 GRCh38: Chr7:130387909	CPA1		Hereditary pancreatitis	Likely benign (Nov 12, 2022)	criteria provided, single submitter
Select item 249692088.	NM_001868.4(CPA1):c.143T>G (p.Leu48Arg) GRCh37: Chr7:130021016 GRCh38: Chr7:130381175	CPA1	L48R	Hereditary pancreatitis	Uncertain significance (Dec 29, 2022)	criteria provided, single submitter
Select item 249691989.	NM_001868.4(CPA1):c.178G>A (p.Gly60Ser) GRCh37: Chr7:130021501 GRCh38: Chr7:130381660	CPA1	G60S	Hereditary pancreatitis	Uncertain significance (Jan 11, 2023)	criteria provided, single submitter
Select item 249691890.	NM_001868.4(CPA1):c.1110C>G (p.Ser370Arg) GRCh37: Chr7:130027702 GRCh38: Chr7:130387861	CPA1	S370R	Hereditary pancreatitis	Uncertain significance (Jan 2, 2023)	criteria provided, single submitter
Select item 249691791.	NM_001868.4(CPA1):c.1256A>G (p.Tyr419Cys) GRCh37: Chr7:130027848 GRCh38: Chr7:130388007	CPA1	Y419C	Hereditary pancreatitis	Uncertain significance (Feb 3, 2023)	criteria provided, single submitter
Select item 249691692.	NM_001868.4(CPA1):c.1180T>C (p.Ser394Pro) GRCh37: Chr7:130027772 GRCh38: Chr7:130387931	CPA1	S394P	Hereditary pancreatitis	Uncertain significance (Dec 1, 2022)	criteria provided, single submitter
Select item 249691593.	NM_001868.4(CPA1):c.1010T>C (p.Val337Ala) GRCh37: Chr7:130025702 GRCh38: Chr7:130385861	CPA1	V337A	Hereditary pancreatitis	Uncertain significance (Jan 17, 2023)	criteria provided, single submitter
Select item 249691394.	NM_001868.4(CPA1):c.420G>A (p.Pro140=) GRCh37: Chr7:130021987 GRCh38: Chr7:130382146	CPA1		Hereditary pancreatitis	Likely benign (Nov 10, 2022)	criteria provided, single submitter
Select item 249691195.	NM_001868.4(CPA1):c.149T>G (p.Leu50Arg) GRCh37: Chr7:130021472 GRCh38: Chr7:130381631	CPA1	L50R	Hereditary pancreatitis	Uncertain significance (Nov 25, 2022)	criteria provided, single submitter
Select item 249691096.	NM_002769.5(PRSS1):c.708G>A (p.Val236=) GRCh37: Chr7:142460835 GRCh38: Chr7:142752984	PRSS1, TRB		Hereditary pancreatitis	Likely benign (Nov 26, 2022)	criteria provided, single submitter
Select item 249690997.	NM_002769.5(PRSS1):c.118T>A (p.Ser40Thr) GRCh37: Chr7:142458483 GRCh38: Chr7:142750632	PRSS1, TRB	S40T	Hereditary pancreatitis	Uncertain significance (Nov 17, 2022)	criteria provided, single submitter
Select item 249690898.	NM_002769.5(PRSS1):c.137A>G (p.His46Arg) GRCh37: Chr7:142458502 GRCh38: Chr7:142750651	PRSS1, TRB	H46R	Hereditary pancreatitis	Uncertain significance (Nov 25, 2022)	criteria provided, single submitter
Select item 249690799.	NM_002769.5(PRSS1):c.98A>C (p.Asn33Thr) GRCh37: Chr7:142458463 GRCh38: Chr7:142750612	PRSS1, TRB	N33T	Hereditary pancreatitis	Uncertain significance (Dec 4, 2022)	criteria provided, single submitter
Select item 2496906100.	NM_002769.5(PRSS1):c.505G>A (p.Ala169Thr) GRCh37: Chr7:142460332 GRCh38: Chr7:142752481	PRSS1, TRB	A169T	Hereditary pancreatitis	Uncertain significance (Feb 12, 2023)	criteria provided, single submitter

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