Unique variants in the EPCAM gene


NOTE: alias for geneID is TACSTD1
Information The variants shown are described using the NM_002354.2 transcript reference sequence.

320 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 4 7i_9_, _7_9_ c.? r.? p.? - pathogenic (dominant) g.? g.? - - EPCAM_000000 - PubMed: Huth 2012, PubMed: Rumilla 2011 - - Germline - - - - - Mamata Sivagnanam
+/. 3 - unspecified deletion r.? p.? - pathogenic (dominant) g.? g.? - - EPCAM_000000 - PubMed: Nagasaka 2010 - - Germline - - - - - Mamata Sivagnanam
+/. 2 _1_4i c.(?_-1)_(491+1_492-1)del r.0 p.0 - pathogenic g.(?_47596644)_(47602439_47604152)del - del Ex1-4, Exon1-4F - EPCAM_000031 - Salomon 2014, Sivagnanam, submitted - - Germline - - - - - Mamata Sivagnanam
+/. 1 _1_7i c.(?_-1)_(858+1_859-1)del r.0 p.0 - pathogenic g.(?_47596644)_(47607109_47612304)del - del Ex1-7 - EPCAM_000032 - Salomon 2014 - - Germline - - - - - Mamata Sivagnanam
+/. 3 _1_9_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic, pathogenic (dominant) g.(?_47596644)_(47613753_?)del, g.(?_47596644)_(47643569_47656880)del g.? del EpCAM - EPCAM_000005, EPCAM_000033 - AlMahamed 2017, Salomon 2014, PubMed: Rossi 2017 - - Germline - - - - - Mamata Sivagnanam
+/. 1 _1_9_ c.(_-1)_(*415_?)del r.? p.? - pathogenic (dominant) g.(?_47596644)_(47639700_47641407)del g.(?_47369505)_(47412561_47414268)del - - EPCAM_000064 56290 bp deletion PubMed: Villacis 2017 - - Germline - - - - - Mamata Sivagnanam
+/. 1 7i_9_ c.? r.? p.? - pathogenic (dominant) g.? g.? - - EPCAM_000000 deletion includes exon 8, 9 and 3kb PubMed: Rumilla 2011 - - Germline - - - - - Mamata Sivagnanam
+/. 1 1 c.1A>C r.(?) p.0? - pathogenic g.47596645A>C g.47369506A>C M1L - EPCAM_000060 - Sivagnanam, submitted - - Germline - - - - - Mamata Sivagnanam
+/. 1 - c.13C>T r.(?) p.(Gln5Ter) - pathogenic g.47596657C>T g.47369518C>T EPCAM(NM_002354.2):c.13C>T (p.Q5*) - EPCAM_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 1 c.38_62dup r.(?) p.(Ala22Cysfs*17) - pathogenic g.47596682_47596706dup g.47369543_47369567dup 38_62dup25 - EPCAM_000051 - Sivagnanam, submitted - - Germline - - - - - Mamata Sivagnanam
+/. 1 1 c.48_68del r.(?) p.(Thr17_Ala23del) - pathogenic g.47596692_47596712del g.47369553_47369573del 47_67del21 - EPCAM_000050 - Sivagnanam, submitted - - Germline - - - - - Mamata Sivagnanam
-?/. 1 - c.77-11del r.(=) p.(=) - likely benign g.47600591del g.47373452del EPCAM(NM_002354.2):c.77-11delT - EPCAM_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 2 - c.77-11T>A r.(=) p.(=) - benign g.47600591T>A g.47373452T>A EPCAM(NM_002354.2):c.77-11T>A - EPCAM_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_NKI
?/. 1 - c.77-1G>C r.spl? p.? - NA g.47600601G>C - chr2_47600601_G_C - EPCAM_000103 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+/. 1 1i_5i c.(76+1_77-1)_(555+1_556-1)del r.? p.? - pathogenic g.(47596721_47600601)_(47604217_47606091)del - del Ex2-5 - EPCAM_000034 - Tang 2016 - - Germline - - - - - Mamata Sivagnanam
?/. 1 - c.79T>C r.(?) p.(Cys27Arg) - NA g.47600604T>C - chr2_47600604_T_C - EPCAM_000104 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.80G>A r.(?) p.(Cys27Tyr) - NA g.47600605G>A - chr2_47600605_G_A - EPCAM_000105 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.82G>A r.(?) p.(Val28Ile) - NA g.47600607G>A - chr2_47600607_G_A - EPCAM_000106 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.83T>C r.(?) p.(Val28Ala) - NA g.47600608T>C - chr2_47600608_T_C - EPCAM_000107 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.88G>A r.(?) p.(Glu30Lys) - NA g.47600613G>A - chr2_47600613_G_A - EPCAM_000108 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.88_89delinsT r.(?) p.(Glu30*) - NA g.47600613_47600614delinsT - chr2_47600613_GA_T - EPCAM_000109 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.89A>G r.(?) p.(Glu30Gly) - NA g.47600614A>G - chr2_47600614_A_G - EPCAM_000110 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.93C>G r.(?) p.(Asn31Lys) - NA g.47600618C>G - chr2_47600618_C_G - EPCAM_000111 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 28/60466 cases, 35/53461 controls - - - BRIDGES consortium
?/. 1 - c.94T>C r.(?) p.(Tyr32His) - NA g.47600619T>C - chr2_47600619_T_C - EPCAM_000112 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+?/. 1 - c.96C>A r.(?) p.(Tyr32*) - likely pathogenic g.47600621C>A - - - EPCAM_000094 - - - - Germline - - - - - Sha Hong
?/. 1 - c.97A>C r.(?) p.(Lys33Gln) - NA g.47600622A>C - chr2_47600622_A_C - EPCAM_000113 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.101T>C r.(?) p.(Leu34Pro) - NA g.47600626T>C - chr2_47600626_T_C - EPCAM_000114 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.106G>A r.(?) p.(Val36Ile) - NA g.47600631G>A - chr2_47600631_G_A - EPCAM_000115 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 11/60466 cases, 8/53461 controls - - - BRIDGES consortium
?/. 1 - c.110A>T r.(?) p.(Asn37Ile) - NA g.47600635A>T - chr2_47600635_A_T - EPCAM_000116 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.111C>G r.(?) p.(Asn37Lys) - NA g.47600636C>G - chr2_47600636_C_G - EPCAM_000117 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 5/53461 controls, 7/60466 cases - - - BRIDGES consortium
+/. 1 2 c.113G>A r.(?) p.(Cys38Tyr) - pathogenic g.47600638G>A g.47373499G>A - - EPCAM_000059 - Sivagnanam, submitted - - Germline - - - - - Mamata Sivagnanam
?/. 1 - c.131G>A r.(?) p.(Arg44His) - NA g.47600656G>A - chr2_47600656_G_A - EPCAM_000119 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.131G>T r.(?) p.(Arg44Leu) - NA g.47600656G>T - chr2_47600656_G_T - EPCAM_000118 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.133C>T r.(?) p.(Gln45*) - NA g.47600658C>T - chr2_47600658_C_T - EPCAM_000120 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
?/. 2 - c.134A>T r.(?) p.(Gln45Leu) - NA g.47600659A>T - chr2_47600659_A_T - EPCAM_000121 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/60466 cases, 4/53461 controls - - - BRIDGES consortium
+/. 1 2 c.139C>T r.(?) p.0? - pathogenic g.47600664C>T g.47373525C>T - - EPCAM_000040 unknown variant 2nd allele Salomon 2014 - - Germline - - - - - Mamata Sivagnanam
?/. 1 - c.139del r.(?) p.(Gln47Serfs*22) - NA g.47600664del - chr2_47600662_GC_G - EPCAM_000122 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.140A>G r.(?) p.(Gln47Arg) - NA g.47600665A>G - chr2_47600665_A_G - EPCAM_000123 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.141G>C r.(?) p.(Gln47His) - NA g.47600666G>C - chr2_47600666_G_C - EPCAM_000124 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.146C>G r.(?) p.(Thr49Ser) - NA g.47600671C>G - chr2_47600671_C_G - EPCAM_000125 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.148T>A r.(?) p.(Ser50Thr) - NA g.47600673T>A - chr2_47600673_T_A - EPCAM_000126 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.149C>T r.(?) p.(Ser50Leu) - NA g.47600674C>T - chr2_47600674_C_T - EPCAM_000127 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.151G>A r.(?) p.(Val51Ile) - NA g.47600676G>A - chr2_47600676_G_A - EPCAM_000128 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
-/. 1 - c.159A>C r.(?) p.(Ala53=) - benign g.47600684A>C - EPCAM(NM_002354.2):c.159A>C (p.A53=) - EPCAM_000318 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
?/. 2 - c.161A>G r.(?) p.(Gln54Arg) - NA g.47600686A>G - chr2_47600686_A_G - EPCAM_000129 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 22/60466 cases, 8/53461 controls - - - BRIDGES consortium
-?/. 1 - c.171C>A r.(?) p.(Val57=) - likely benign g.47600696C>A g.47373557C>A EPCAM(NM_002354.2):c.171C>A (p.V57=) - EPCAM_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.172A>T r.(?) p.(Ile58Phe) - NA g.47600697A>T - chr2_47600697_A_T - EPCAM_000130 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.179C>T r.(?) p.(Ser60Leu) - NA g.47600704C>T - chr2_47600704_C_T - EPCAM_000131 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 12/60466 cases, 13/53461 controls - - - BRIDGES consortium
?/. 1 - c.181A>G r.(?) p.(Lys61Glu) - NA g.47600706A>G - chr2_47600706_A_G - EPCAM_000132 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.184+1G>T r.spl? p.? - NA g.47600710G>T - chr2_47600710_G_T - EPCAM_000133 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases, 4/53461 controls - - - BRIDGES consortium
+/. 1 _3_9_ c.(?_185-1)_(*415_?)del r.? p.? - pathogenic (dominant) g.(?_47600946)_(47614167_?)del g.? - - EPCAM_000000 deletion includes at least exons 3, 8, 9 PubMed: Huth 2012 - - Germline - - - - - Mamata Sivagnanam
+/., ?/. 3 2i_9_ c.(184+1_185-1)_(*415_?)del r.? p.? - pathogenic, VUS g.(47600710_47600946)_(47710089_?)del - c.185-?_*272+?del [5'UTR_EX16del/EPCAM EX3_3'UTRdel], c.185-?_945+?del, 1 more item - EPCAM_000006 - Desiree du Sart, PubMed: Lagerstedt-RobinsonĀ et al. 2016 - - De novo, Germline - - - - - Ian Frayling, Kristina Lagerstedt Robinson, INSiGHT group
?/. 2 - c.187G>C r.(?) p.(Ala63Pro) - NA g.47600949G>C - chr2_47600949_G_C - EPCAM_000134 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 4/60466 cases - - - BRIDGES consortium
?/. 1 - c.188C>G r.(?) p.(Ala63Gly) - NA g.47600950C>G - chr2_47600950_C_G - EPCAM_000135 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.194A>G r.(?) p.(Lys65Arg) - NA g.47600956A>G - chr2_47600956_A_G - EPCAM_000136 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+/. 1 3 c.197G>A r.(?) p.(Cys66Tyr) - pathogenic g.47600959G>A g.47373820G>A - - EPCAM_000056 - Sivagnanam 2008; Schnell 2013 - - Germline - - - - - Mamata Sivagnanam
?/. 2 - c.205A>G r.(?) p.(Met69Val) - NA g.47600967A>G - chr2_47600967_A_G - EPCAM_000137 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.212C>T r.(?) p.(Ala71Val) - NA g.47600974C>T - chr2_47600974_C_T - EPCAM_000138 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.224G>A r.(?) p.(Gly75Asp) - NA g.47600986G>A - chr2_47600986_G_A - EPCAM_000139 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 7/53461 controls, 7/60466 cases - - - BRIDGES consortium
+/. 4 3 c.227C>G r.(?) p.(Ser76*) - pathogenic g.47600989C>G g.47373850C>G EPCAM(NM_002354.2):c.227C>G (p.S76*) - EPCAM_000039 VKGL data sharing initiative Nederland Salomon 2014, Theoni 2014 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, Mamata Sivagnanam
?/. 2 - c.232C>G r.(?) p.(Leu78Val) - NA g.47600994C>G - chr2_47600994_C_G - EPCAM_000140 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 18/60466 cases, 20/53461 controls - - - BRIDGES consortium
?/. 2 - c.233T>G r.(?) p.(Leu78Arg) - NA g.47600995T>G - chr2_47600995_T_G - EPCAM_000141 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 3/60466 cases - - - BRIDGES consortium
?/. 1 - c.235G>A r.(?) p.(Gly79Arg) - NA g.47600997G>A - chr2_47600997_G_A - EPCAM_000142 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.236G>A r.(?) p.(Gly79Glu) - NA g.47600998G>A - chr2_47600998_G_A - EPCAM_000143 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.242G>A r.(?) p.(Arg81Lys) - NA g.47601004G>A - chr2_47601004_G_A - EPCAM_000144 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.245C>T r.(?) p.(Ala82Val) - NA g.47601007C>T - chr2_47601007_C_T - EPCAM_000145 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.250C>G r.(?) p.(Pro84Ala) - NA g.47601012C>G - chr2_47601012_C_G - EPCAM_000146 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.250C>T r.(?) p.(Pro84Ser) - NA g.47601012C>T - chr2_47601012_C_T - EPCAM_000147 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 11/53461 controls, 13/60466 cases - - - BRIDGES consortium
?/. 1 - c.251C>G r.(?) p.(Pro84Arg) - NA g.47601013C>G - chr2_47601013_C_G - EPCAM_000148 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
?/. 2 - c.251C>T r.(?) p.(Pro84Leu) - NA g.47601013C>T - chr2_47601013_C_T - EPCAM_000149 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 2/60466 cases - - - BRIDGES consortium
?/. 1 - c.254A>G r.(?) p.(Glu85Gly) - NA g.47601016A>G - chr2_47601016_A_G - EPCAM_000150 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.255A>T r.(?) p.(Glu85Asp) - NA g.47601017A>T - chr2_47601017_A_T - EPCAM_000151 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/53461 controls, 4/60466 cases - - - BRIDGES consortium
?/. 1 - c.256G>A r.(?) p.(Gly86Arg) - NA g.47601018G>A - chr2_47601018_G_A - EPCAM_000152 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+/., ?/. 3 3 c.265C>T r.(?) p.(Gln89*) - NA, pathogenic g.47601027C>T g.47373888C>T chr2_47601027_C_T - EPCAM_000038 1 more item Shakhnovic 2014, PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - Mamata Sivagnanam, BRIDGES consortium
+/., -?/., ?/. 4 3 c.267G>C r.(?) p.(Gln89His) - likely benign, pathogenic, VUS g.47601029G>C g.47373890G>C EPCAM(NM_002354.2):c.267G>C (p.Q89H) - EPCAM_000012 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India), 1 more item Sivagnanam, submitted, PubMed: Narang 2020, Journal: Narang 2020 - rs146480420 CLASSIFICATION record, Germline - 2/2793 individuals - - - VKGL-NL_Groningen, VKGL-NL_VUmc, Mamata Sivagnanam, Mohammed Faruq
?/. 2 - c.269A>G r.(?) p.(Asn90Ser) - NA g.47601031A>G - chr2_47601031_A_G - EPCAM_000153 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 7/60466 cases - - - BRIDGES consortium
?/. 1 - c.271A>G r.(?) p.(Asn91Asp) - NA g.47601033A>G - chr2_47601033_A_G - EPCAM_000154 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.272A>G r.(?) p.(Asn91Ser) - NA g.47601034A>G - chr2_47601034_A_G - EPCAM_000155 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases, 4/53461 controls - - - BRIDGES consortium
?/. 1 - c.273T>G r.(?) p.(Asn91Lys) - NA g.47601035T>G - chr2_47601035_T_G - EPCAM_000156 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
-?/. 1 - c.297C>T r.(?) p.(Cys99=) - likely benign g.47601059C>T - EPCAM(NM_002354.2):c.297C>T (p.C99=) - EPCAM_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.298G>A r.(?) p.(Asp100Asn) - NA g.47601060G>A - chr2_47601060_G_A - EPCAM_000157 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 10/53461 controls, 13/60466 cases - - - BRIDGES consortium
?/. 1 - c.299A>G r.(?) p.(Asp100Gly) - NA g.47601061A>G - chr2_47601061_A_G - EPCAM_000158 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.304A>G r.(?) p.(Ser102Gly) - NA g.47601066A>G - chr2_47601066_A_G - EPCAM_000159 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
-?/. 1 - c.306C>T r.(?) p.(Ser102=) - likely benign g.47601068C>T - EPCAM(NM_002354.2):c.306C>T (p.S102=) - EPCAM_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/., ?/. 7 3 c.307G>A r.(?) p.(Gly103Arg) - likely pathogenic, NA, pathogenic g.47601069G>A g.47373930G>A chr2_47601069_G_A, EPCAM(NM_002354.2):c.307G>A (p.G103R) - EPCAM_000013 VKGL data sharing initiative Nederland, 1 more item Salomon 2014, Sivagnanam, submitted, Tang 2016, PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 1/60466 cases, 2/53461 controls - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, Mamata Sivagnanam, BRIDGES consortium
?/. 1 - c.310C>G r.(?) p.(Leu104Val) - NA g.47601072C>G - chr2_47601072_C_G - EPCAM_000161 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.310C>T r.(?) p.(Leu104Phe) - NA g.47601072C>T - chr2_47601072_C_T - EPCAM_000160 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.313T>C r.(?) p.(Phe105Leu) - NA g.47601075T>C - chr2_47601075_T_C - EPCAM_000162 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
+/., ?/. 2 3 c.314T>G r.(?) p.(Phe105Cys) - NA, pathogenic g.47601076T>G g.47373937T>G chr2_47601076_T_G - EPCAM_000041 1 more item Salomon 2014, PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - Mamata Sivagnanam, BRIDGES consortium
+/., ?/. 3 3 c.316A>T r.(?) p.(Lys106*) - NA, pathogenic g.47601078A>T g.47373939A>T chr2_47601078_A_T - EPCAM_000057 1 more item Ko 2010, PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - Mamata Sivagnanam, BRIDGES consortium
?/. 2 - c.319G>A r.(?) p.(Ala107Thr) - NA g.47601081G>A - chr2_47601081_G_A - EPCAM_000163 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 2/60466 cases - - - BRIDGES consortium
+/. 1 3 c.321del r.(?) p.(Lys108Serfs*12) - pathogenic g.47601083del g.47373944del 321delC - EPCAM_000042 - Salomon 2014 - - Germline - - - - - Mamata Sivagnanam
?/. 2 - c.328T>C r.(?) p.(Cys110Arg) - NA g.47601090T>C - chr2_47601090_T_C - EPCAM_000165 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.328T>G r.(?) p.(Cys110Gly) - NA g.47601090T>G - chr2_47601090_T_G - EPCAM_000164 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.332A>G r.(?) p.(Asn111Ser) - NA g.47601094A>G - chr2_47601094_A_G - EPCAM_000166 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.334G>A r.(?) p.(Gly112Ser) - NA g.47601096G>A - chr2_47601096_G_A - EPCAM_000167 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 5/60466 cases - - - BRIDGES consortium
?/. 1 - c.335G>A r.(?) p.(Gly112Asp) - NA g.47601097G>A - chr2_47601097_G_A - EPCAM_000168 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.335G>T r.(?) p.(Gly112Val) - NA g.47601097G>T - chr2_47601097_G_T - EPCAM_000169 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.338C>T r.(?) p.(Thr113Ile) - NA g.47601100C>T - chr2_47601100_C_T - EPCAM_000170 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases, 5/53461 controls - - - BRIDGES consortium
?/. 1 - c.343A>G r.(?) p.(Met115Val) - NA g.47601105A>G - chr2_47601105_A_G - EPCAM_000171 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
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