ClinVar for MedGen (Select 44264) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18016821.	NM_000465.4(BARD1):c.1903+1G>C GRCh37: Chr2:215609790 GRCh38: Chr2:214745066	BARD1		Familial cancer of breast	Likely pathogenic (May 24, 2023)	criteria provided, single submitter
Select item 18016812.	NM_000251.3(MSH2):c.2T>A (p.Met1Lys) GRCh37: Chr2:47630332 GRCh38: Chr2:47403193	MSH2	M1K	Hereditary nonpolyposis colorectal neoplasms	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 18016803.	NM_000179.3(MSH6):c.2263G>T (p.Glu755Ter) GRCh37: Chr2:48027385 GRCh38: Chr2:47800246	MSH6	E453, E580, E625, E656, E699, E729, E755, E757, E787*	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 18016794.	NM_002354.3(EPCAM):c.179C>G (p.Ser60Ter) GRCh37: Chr2:47600704 GRCh38: Chr2:47373565	EPCAM	S60*	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 18016785.	NM_002354.3(EPCAM):c.77-2A>G GRCh37: Chr2:47600600 GRCh38: Chr2:47373461	EPCAM		Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 18016776.	NM_001128425.2(MUTYH):c.36+1G>C GRCh37: Chr1:45805890 GRCh38: Chr1:45340218	MUTYH, TOE1		Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 18016767.	NM_001048174.2(MUTYH):c.67C>T (p.Gln23Ter) GRCh37: Chr1:45800111 GRCh38: Chr1:45334439	MUTYH	Q23, Q29, Q37*	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 18016758.	NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter) GRCh37: Chr1:45798839 GRCh38: Chr1:45333167	MUTYH	W103, W104, W11, W110, W114, W117, W118, W128, W131, W75	Familial adenomatous polyposis 2	Conflicting interpretations of pathogenicity (Dec 28, 2022)	criteria provided, conflicting interpretations
Select item 18016749.	NM_002354.3(EPCAM):c.373A>T (p.Arg125Ter) GRCh37: Chr2:47601135 GRCh38: Chr2:47373996	EPCAM	R125*	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180167310.	NM_001048174.2(MUTYH):c.1021G>T (p.Glu341Ter) GRCh37: Chr1:45797414 GRCh38: Chr1:45331742	MUTYH	E226, E249, E313, E327, E328, E341, E342, E348, E352, E355, E356, E366, E369*	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180167211.	NM_001048174.2(MUTYH):c.1441A>T (p.Lys481Ter) GRCh37: Chr1:45795103 GRCh38: Chr1:45329431	MUTYH	K366, K389, K453, K467, K468, K481, K482, K488, K492, K495, K496, K506, K509*	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180167112.	NM_001048174.2(MUTYH):c.1495C>T (p.Gln499Ter) GRCh37: Chr1:45795049 GRCh38: Chr1:45329377	MUTYH	Q384, Q407, Q471, Q485, Q486, Q499, Q500, Q506, Q510, Q513, Q514, Q524, Q527*	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180167013.	NM_032043.3(BRIP1):c.508-1G>A GRCh37: Chr17:59924582 GRCh38: Chr17:61847221	BRIP1		Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180166914.	NM_032043.3(BRIP1):c.1585G>T (p.Gly529Ter) GRCh37: Chr17:59861674 GRCh38: Chr17:61784313	BRIP1	G529*	Familial cancer of breast	Pathogenic (Jun 2, 2023)	criteria provided, single submitter
Select item 180166815.	NM_002354.3(EPCAM):c.3G>C (p.Met1Ile) GRCh37: Chr2:47596647 GRCh38: Chr2:47369508	EPCAM	M1I	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180166716.	NM_006361.6(HOXB13):c.814A>T (p.Lys272Ter) GRCh37: Chr17:46804193 GRCh38: Chr17:48726831	HOXB13	K272*	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180166617.	NM_000051.4(ATM):c.5462_5476delinsTCTTCAATTATTCTTCAATTATTAAAGCCAATGTGTGAAATTCTTCAATTA (p.Cys1821_Leu1826delinsPhePheAsnTyrSerSerIleIleLysAlaAsnValTer) GRCh37: Chr11:108173722-108173736 GRCh38: Chr11:108302995-108303009	ATM		Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180166518.	NM_000535.7(PMS2):c.285delinsAAGATTCAA (p.Phe95fs) GRCh37: Chr7:6043389 GRCh38: Chr7:6003758	PMS2	F95fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180166419.	NM_007194.4(CHEK2):c.668del (p.Met222_Ser223insTer) GRCh37: Chr22:29115398 GRCh38: Chr22:28719410	CHEK2		Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180166320.	NM_007194.4(CHEK2):c.826del (p.Ile276fs) GRCh37: Chr22:29106014 GRCh38: Chr22:28710026	CHEK2	I209fs, I276fs, I319fs, I55fs	Familial cancer of breast	Pathogenic (Jun 27, 2023)	criteria provided, single submitter
Select item 180166221.	NM_007194.4(CHEK2):c.908+2del GRCh37: Chr22:29099491 GRCh38: Chr22:28703503	CHEK2		Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180166122.	NM_005359.6(SMAD4):c.1233_1249del (p.Ser411fs) GRCh37: Chr18:48593476-48593492 GRCh38: Chr18:51067106-51067122	SMAD4	S411fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180166023.	NM_032043.3(BRIP1):c.337_343del (p.Thr113fs) GRCh37: Chr17:59934455-59934461 GRCh38: Chr17:61857094-61857100	BRIP1	T113fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180165924.	NM_032043.3(BRIP1):c.1206del (p.Arg403fs) GRCh37: Chr17:59876595 GRCh38: Chr17:61799234	BRIP1	R403fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180165825.	NM_032043.3(BRIP1):c.2558del (p.Pro853fs) GRCh37: Chr17:59770808 GRCh38: Chr17:61693447	BRIP1	P853fs	Familial cancer of breast	Pathogenic (Jun 7, 2023)	criteria provided, single submitter
Select item 180165726.	NM_032043.3(BRIP1):c.3307_3308del (p.Asp1102_Ile1103insTer) GRCh37: Chr17:59761099-59761100 GRCh38: Chr17:61683738-61683739	BRIP1		Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180165627.	NM_058216.3(RAD51C):c.965+1del GRCh37: Chr17:56801461 GRCh38: Chr17:58724100	RAD51C		Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180165528.	NM_002354.3(EPCAM):c.1A>G (p.Met1Val) GRCh37: Chr2:47596645 GRCh38: Chr2:47369506	EPCAM	M1V	EPCAM-related condition	Likely pathogenic (Aug 29, 2023)	criteria provided, single submitter
Select item 180165429.	NM_006361.6(HOXB13):c.844_845del (p.Ala282fs) GRCh37: Chr17:46804162-46804163 GRCh38: Chr17:48726800-48726801	HOXB13	A282fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180165330.	NM_007294.4(BRCA1):c.3100_3101del (p.Asn1034fs) GRCh37: Chr17:41244447-41244448 GRCh38: Chr17:43092430-43092431	BRCA1	N1034fs, N987fs, N1031fs, N906fs, N922fs, N964fs, N967fs, N992fs, N1033fs, N866fs, N963fs, N1008fs, N738fs, N923fs, N945fs, N966fs, N993fs, N1007fs, N907fs, N946fs, N986fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180165231.	NM_002878.4(RAD51D):c.574del (p.Gln192fs) GRCh37: Chr17:33433407 GRCh38: Chr17:35106388	RAD51D, RAD51L3-RFFL	Q192fs, Q212fs, Q80fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180165132.	NM_002878.4(RAD51D):c.866del (p.Gly289fs) GRCh37: Chr17:33428257 GRCh38: Chr17:35101238	RAD51D, RAD51L3-RFFL	G177fs, G289fs, G309fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180165033.	NM_002878.4(RAD51D):c.974del (p.Gly325fs) GRCh37: Chr17:33427985 GRCh38: Chr17:35100966	RAD51D, RAD51L3-RFFL	G213fs, G325fs, G345fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180164934.	NM_001042492.3(NF1):c.6098del (p.Asp2033fs) GRCh37: Chr17:29663442 GRCh38: Chr17:31336424	NF1	D2012fs, D2033fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180164835.	NM_001042492.3(NF1):c.3669_3687del (p.Ile1223fs) GRCh37: Chr17:29560190-29560208 GRCh38: Chr17:31233172-31233190	NF1	I1223fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180164736.	NM_001042492.3(NF1):c.3424_3425del (p.Arg1142fs) GRCh37: Chr17:29559826-29559827 GRCh38: Chr17:31232808-31232809	NF1	R1142fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180164637.	NM_024675.4(PALB2):c.609del (p.Lys203fs) GRCh37: Chr16:23647258 GRCh38: Chr16:23635937	PALB2	K203fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180164538.	NM_000059.4(BRCA2):c.6461_6473del (p.Tyr2154fs) GRCh37: Chr13:32914952-32914964 GRCh38: Chr13:32340815-32340827	BRCA2	Y2154fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180164439.	NM_000059.4(BRCA2):c.6063_6066del (p.His2021fs) GRCh37: Chr13:32914553-32914556 GRCh38: Chr13:32340416-32340419	BRCA2	H2021fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180164340.	NM_000059.4(BRCA2):c.4539_4542del (p.Asp1513fs) GRCh37: Chr13:32913030-32913033 GRCh38: Chr13:32338893-32338896	BRCA2	D1513fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180164241.	NM_000059.4(BRCA2):c.3572del (p.Lys1191fs) GRCh37: Chr13:32912063 GRCh38: Chr13:32337926	BRCA2	K1191fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180164142.	NM_000059.4(BRCA2):c.3481_3482del (p.Asp1161fs) GRCh37: Chr13:32911970-32911971 GRCh38: Chr13:32337833-32337834	BRCA2	D1161fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180164043.	NM_000059.4(BRCA2):c.2802del (p.Asp935fs) GRCh37: Chr13:32911294 GRCh38: Chr13:32337157	BRCA2	D935fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180163944.	NM_000059.4(BRCA2):c.2516_2519del (p.Lys838_Tyr839insTer) GRCh37: Chr13:32911006-32911009 GRCh38: Chr13:32336869-32336872	BRCA2		Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180163845.	NM_000059.4(BRCA2):c.2368del (p.Glu790fs) GRCh37: Chr13:32910860 GRCh38: Chr13:32336723	BRCA2	E790fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180163746.	NM_000059.4(BRCA2):c.1770del (p.Phe590fs) GRCh37: Chr13:32907383 GRCh38: Chr13:32333246	BRCA2	F590fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180163647.	NM_000051.4(ATM):c.7410_7425del (p.Asn2469_Tyr2470insTer) GRCh37: Chr11:108201039-108201054 GRCh38: Chr11:108330312-108330327	ATM, C11orf65		Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180163548.	NM_000051.4(ATM):c.5756_5759del (p.Gln1919fs) GRCh37: Chr11:108178705-108178708 GRCh38: Chr11:108307978-108307981	ATM	Q1919fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180163449.	NM_000051.4(ATM):c.3921del (p.Met1308fs) GRCh37: Chr11:108155126 GRCh38: Chr11:108284399	ATM	M1308fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180163350.	NM_000051.4(ATM):c.2723del (p.Val908fs) GRCh37: Chr11:108139221 GRCh38: Chr11:108268494	ATM	V908fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180163251.	NM_000051.4(ATM):c.2145del (p.Val716fs) GRCh37: Chr11:108126961 GRCh38: Chr11:108256234	ATM	V716fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180163152.	NM_000051.4(ATM):c.1347_1348del (p.Glu450fs) GRCh37: Chr11:108121537-108121538 GRCh38: Chr11:108250810-108250811	ATM	E450fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180163053.	NM_000051.4(ATM):c.1258del (p.Ile420fs) GRCh37: Chr11:108121449 GRCh38: Chr11:108250722	ATM	I420fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180162954.	NM_000051.4(ATM):c.270del (p.Arg90fs) GRCh37: Chr11:108099988 GRCh38: Chr11:108229261	ATM	R90fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180162855.	NM_000051.4(ATM):c.191del (p.Leu64fs) GRCh37: Chr11:108099906 GRCh38: Chr11:108229179	ATM	L64fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180162756.	NM_000314.8(PTEN):c.254-2_254-1del GRCh37: Chr10:89692768-89692769 GRCh38: Chr10:87933011-87933012	PTEN		Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180162657.	NM_002485.5(NBN):c.2168_2172del (p.Leu723fs) GRCh37: Chr8:90955493-90955497 GRCh38: Chr8:89943265-89943269	NBN	L641fs, L723fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180162558.	NM_000038.6(APC):c.5818del (p.Ile1940fs) GRCh37: Chr5:112177109 GRCh38: Chr5:112841412	APC	I1657fs, I1780fs, I1814fs, I1839fs, I1849fs, I1881fs, I1899fs, I1912fs, I1915fs, I1922fs, I1940fs, I1950fs, I1958fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180162459.	NM_000465.4(BARD1):c.417_427del (p.Lys139fs) GRCh37: Chr2:215646171-215646181 GRCh38: Chr2:214781447-214781457	BARD1	K120fs, K139fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180162360.	NM_000465.4(BARD1):c.629del (p.Thr210fs) GRCh37: Chr2:215645969 GRCh38: Chr2:214781245	BARD1	T191fs, T210fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180162261.	NM_000465.4(BARD1):c.735del (p.Gln245fs) GRCh37: Chr2:215645863 GRCh38: Chr2:214781139	BARD1	Q226fs, Q245fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180162162.	NM_000465.4(BARD1):c.1029del (p.Ser344fs) GRCh37: Chr2:215645569 GRCh38: Chr2:214780845	BARD1	S325fs, S344fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180162063.	NM_000179.3(MSH6):c.4001+1del GRCh37: Chr2:48033790 GRCh38: Chr2:47806651	MSH6		Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180161964.	NM_000179.3(MSH6):c.3511del (p.Asp1171fs) GRCh37: Chr2:48032121 GRCh38: Chr2:47804982	MSH6	D1041fs, D1171fs, D869fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180161865.	NM_000179.3(MSH6):c.2752del (p.His918fs) GRCh37: Chr2:48027873 GRCh38: Chr2:47800734	MSH6	H616fs, H788fs, H918fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180161766.	NM_000059.4(BRCA2):c.8005A>T (p.Arg2669Ter) GRCh37: Chr13:32937344 GRCh38: Chr13:32363207	BRCA2	R1025, R2637, R2669, R530	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180161667.	NM_002354.3(EPCAM):c.167del (p.Thr56fs) GRCh37: Chr2:47600692 GRCh38: Chr2:47373553	EPCAM	T56fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180161568.	NM_002354.3(EPCAM):c.87_88del (p.Cys29_Glu30delinsTer) GRCh37: Chr2:47600610-47600611 GRCh38: Chr2:47373471-47373472	EPCAM		Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180161469.	NM_002354.3(EPCAM):c.37del (p.Ala14fs) GRCh37: Chr2:47596681 GRCh38: Chr2:47369542	EPCAM	A14fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180161370.	NM_001128425.2(MUTYH):c.36+1del GRCh37: Chr1:45805890 GRCh38: Chr1:45340218	MUTYH, TOE1		Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180161271.	NM_001048174.2(MUTYH):c.181_182del (p.Asp61fs) GRCh37: Chr1:45799167-45799168 GRCh38: Chr1:45333495-45333496	MUTYH	D61fs, D62fs, D72fs, D76fs, D86fs, D89fs	Hereditary cancer-predisposing syndrome	Pathogenic (Feb 14, 2023)	criteria provided, single submitter
Select item 180161172.	NM_007194.4(CHEK2):c.468del (p.Ser155_Tyr156insTer) GRCh37: Chr22:29121089 GRCh38: Chr22:28725101	CHEK2		Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180161073.	NM_032043.3(BRIP1):c.2300_2303del (p.Glu767fs) GRCh37: Chr17:59820450-59820453 GRCh38: Chr17:61743089-61743092	BRIP1	E767fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180160974.	NM_007294.4(BRCA1):c.603del (p.Gln202fs) GRCh37: Chr17:41247930 GRCh38: Chr17:43095913	BRCA1	Q155fs, Q202fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180160875.	NM_024675.4(PALB2):c.659del (p.Ser220fs) GRCh37: Chr16:23647208 GRCh38: Chr16:23635887	PALB2	S220fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180160776.	NM_000059.4(BRCA2):c.6620_6623del (p.Thr2207fs) GRCh37: Chr13:32915109-32915112 GRCh38: Chr13:32340972-32340975	BRCA2	T2207fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180160677.	NM_000059.4(BRCA2):c.6348del (p.Cys2117fs) GRCh37: Chr13:32914840 GRCh38: Chr13:32340703	BRCA2	C2117fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180160578.	NM_000059.4(BRCA2):c.6656C>A (p.Ser2219Ter) GRCh37: Chr13:32915148 GRCh38: Chr13:32341011	BRCA2	S2219*	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180160479.	NM_000059.4(BRCA2):c.4888del (p.Ser1630fs) GRCh37: Chr13:32913380 GRCh38: Chr13:32339243	BRCA2	S1630fs	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Jan 10, 2023)	criteria provided, single submitter
Select item 180160380.	NM_000059.4(BRCA2):c.2950del (p.Glu984fs) GRCh37: Chr13:32911442 GRCh38: Chr13:32337305	BRCA2	E984fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180160281.	NM_000051.4(ATM):c.6164del (p.Ile2055fs) GRCh37: Chr11:108186806 GRCh38: Chr11:108316079	ATM, C11orf65	I2055fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180160182.	NM_000465.4(BARD1):c.1903+1del GRCh37: Chr2:215609790 GRCh38: Chr2:214745066	BARD1		Familial cancer of breast	Likely pathogenic (May 24, 2023)	criteria provided, single submitter
Select item 180160083.	NM_002354.3(EPCAM):c.11del (p.Pro4fs) GRCh37: Chr2:47596651 GRCh38: Chr2:47369512	EPCAM	P4fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180159984.	NM_007194.4(CHEK2):c.712_713dup (p.Glu239fs) GRCh37: Chr22:29107975-29107976 GRCh38: Chr22:28711987-28711988	CHEK2	E172fs, E18fs, E239fs, E282fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180159885.	NM_032043.3(BRIP1):c.220dup (p.Glu74fs) GRCh37: Chr17:59934577-59934578 GRCh38: Chr17:61857216-61857217	BRIP1	E74fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180159786.	NM_032043.3(BRIP1):c.2823_2826dup (p.Val943fs) GRCh37: Chr17:59763275-59763276 GRCh38: Chr17:61685914-61685915	BRIP1	V943fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180159687.	NM_032043.3(BRIP1):c.3592dup (p.Ile1198fs) GRCh37: Chr17:59760814-59760815 GRCh38: Chr17:61683453-61683454	BRIP1	I1198fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180159588.	NM_058216.3(RAD51C):c.114_117dup (p.Glu40fs) GRCh37: Chr17:56770117-56770118 GRCh38: Chr17:58692756-58692757	RAD51C	E40fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180159489.	NM_006361.6(HOXB13):c.760_763dup (p.Leu255fs) GRCh37: Chr17:46804243-46804244 GRCh38: Chr17:48726881-48726882	HOXB13	L255fs	not provided	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 180159390.	NM_006361.6(HOXB13):c.775dup (p.Gln259fs) GRCh37: Chr17:46804231-46804232 GRCh38: Chr17:48726869-48726870	HOXB13	Q259fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180159291.	NM_001042492.3(NF1):c.3940dup (p.Trp1314fs) GRCh37: Chr17:29563003-29563004 GRCh38: Chr17:31235985-31235986	NF1	W1314fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180159192.	NM_000546.6(TP53):c.308dup (p.Tyr103Ter) GRCh37: Chr17:7579378-7579379 GRCh38: Chr17:7676060-7676061	TP53	Y103, Y64	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180159093.	NM_000059.4(BRCA2):c.5598dup (p.Thr1867fs) GRCh37: Chr13:32914087-32914088 GRCh38: Chr13:32339950-32339951	BRCA2	T1867fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180158994.	NM_000075.4(CDK4):c.279dup (p.Glu94Ter) GRCh37: Chr12:58145064-58145065 GRCh38: Chr12:57751281-57751282	CDK4	E94*	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180158895.	NM_000051.4(ATM):c.6820dup (p.Ala2274fs) GRCh37: Chr11:108196794-108196795 GRCh38: Chr11:108326067-108326068	ATM, C11orf65	A2274fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180158796.	NM_000051.4(ATM):c.5674+1G>A GRCh37: Chr11:108175580 GRCh38: Chr11:108304853	ATM		Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180158697.	NM_000051.4(ATM):c.5373_5376dup (p.Asn1793fs) GRCh37: Chr11:108173631-108173632 GRCh38: Chr11:108302904-108302905	ATM	N1793fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180158598.	NM_000051.4(ATM):c.4879_4886dup (p.Asp1630fs) GRCh37: Chr11:108165754-108165755 GRCh38: Chr11:108295027-108295028	ATM	D1630fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 180158499.	NM_000051.4(ATM):c.2554dup (p.Gln852fs) GRCh37: Chr11:108137984-108137985 GRCh38: Chr11:108267257-108267258	ATM	Q852fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 1801583100.	NM_000314.8(PTEN):c.370dup (p.Cys124fs) GRCh37: Chr10:89692885-89692886 GRCh38: Chr10:87933128-87933129	PTEN	C124fs, C297fs	Stomach cancer	Pathogenic (Jul 1, 2021)	no assertion criteria provided

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