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.

99 entries on 1 page. Showing entries 1 - 99.
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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: Rumilla 2011, PubMed: Huth 2012 - - 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 (dominant), pathogenic g.(?_47596644)_(47643569_47656880)del, g.(?_47596644)_(47613753_?)del g.? del EpCAM - EPCAM_000005, EPCAM_000033 - PubMed: Rossi 2017, Salomon 2014, AlMahamed 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
-/. 1 - 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
+/. 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.96C>A r.(?) p.(Tyr32*) - likely pathogenic g.47600621C>A - - - EPCAM_000094 - - - - Germline - - - - - Sha Hong
+/. 1 2 c.113G>A r.(?) p.(Cys38Tyr) - pathogenic g.47600638G>A g.47373499G>A - - EPCAM_000059 - Sivagnanam, submitted - - Germline - - - - - Mamata Sivagnanam
+/. 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.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 _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 - deletion EPCAM exon 3 to MSH2 exon 16 (*272_?), c.185-?_*272+?del [5'UTR_EX16del/EPCAM EX3_3'UTRdel], 1 more item - EPCAM_000006 - Desiree du Sart, PubMed: Lagerstedt-Robinson et al. 2016 - - Germline, De novo - - - - - INSiGHT group, Ian Frayling, Kristina Lagerstedt Robinson
+/. 1 3 c.197G>A r.(?) p.(Cys66Tyr) - pathogenic g.47600959G>A g.47373820G>A - - EPCAM_000056 - Sivagnanam 2008; Schnell 2013 - - Germline - - - - - Mamata Sivagnanam
+/. 3 3 c.227C>G r.(?) p.(Ser76*) - pathogenic g.47600989C>G g.47373850C>G - - EPCAM_000039 - Theoni 2014, Salomon 2014 - - Germline - - - - - Mamata Sivagnanam
+/. 1 3 c.265C>T r.(?) p.(Gln89*) - pathogenic g.47601027C>T g.47373888C>T - - EPCAM_000038 - Shakhnovic 2014 - - Germline - - - - - Mamata Sivagnanam
-?/., ?/., +/. 4 3 c.267G>C r.(?) p.(Gln89His) - likely benign, VUS, pathogenic g.47601029G>C g.47373890G>C EPCAM(NM_002354.2):c.267G>C (p.Q89H) - EPCAM_000012 VKGL data sharing initiative Nederland, 1 more item PubMed: Narang 2020, Journal: Narang 2020, Sivagnanam, submitted - rs146480420 CLASSIFICATION record, Germline - 2/2793 individuals - - - VKGL-NL_Groningen, VKGL-NL_VUmc, Mohammed Faruq, Mamata Sivagnanam
-?/. 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
-?/. 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
+/., +?/. 5 3 c.307G>A r.(?) p.(Gly103Arg) - pathogenic, likely pathogenic g.47601069G>A g.47373930G>A EPCAM(NM_002354.2):c.307G>A (p.G103R) - EPCAM_000013 VKGL data sharing initiative Nederland Salomon 2014, Tang 2016, Sivagnanam, submitted - - Germline, CLASSIFICATION record - - - - - Mamata Sivagnanam, VKGL-NL_Utrecht, VKGL-NL_Rotterdam
+/. 1 3 c.314T>G r.(?) p.(Phe105Cys) - pathogenic g.47601076T>G g.47373937T>G - - EPCAM_000041 - Salomon 2014 - - Germline - - - - - Mamata Sivagnanam
+/. 2 3 c.316A>T r.(?) p.(Lys106*) - pathogenic g.47601078A>T g.47373939A>T - - EPCAM_000057 - Ko 2010 - - Germline - - - - - Mamata Sivagnanam
+/. 1 3 c.321del r.(?) p.(Lys108Serfs*12) - pathogenic g.47601083del g.47373944del 321delC - EPCAM_000042 - Salomon 2014 - - Germline - - - - - Mamata Sivagnanam
-/. 6 3 c.344T>C r.(?) p.(Met115Thr) - benign g.47601106T>C g.47373967T>C EPCAM(NM_002354.2):c.344T>C (p.M115T) - EPCAM_000014 VKGL data sharing initiative Nederland contributed by Dept. of Dr Vaccaro - - Germline, CLASSIFICATION record - - - - - Maximiliano Zeballos, Carlos Vaccaro, VKGL-NL_Groningen, Angela Solano & F Cardoso
+/. 1 - c.347G>A r.(?) p.(Cys116Tyr) - pathogenic g.47601109G>A g.47373970G>A EPCAM(NM_002354.2):c.347G>A (p.C116Y) - EPCAM_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 3 c.352_368del r.(?) p.(Cys118Glyfs*9) - pathogenic g.47601114_47601130del g.47373975_47373991del - - EPCAM_000043 - Salomon 2014 - - Germline - - - - - Mamata Sivagnanam
+/. 1 3 c.359A>T r.(?) p.(Asn120Ile) - pathogenic g.47601121A>T g.47373982A>T - - EPCAM_000044 - Salomon 2014 - - Germline - - - - - Mamata Sivagnanam
+/. 1 3 c.380C>T r.(?) p.(Thr127Ile) - pathogenic g.47601142C>T g.47374003C>T - - EPCAM_000045 unknown variant 2nd allele Salomon 2014 - - Germline - - - - - Mamata Sivagnanam
+/. 1 3 c.394G>T r.(?) p.(Glu132*) - pathogenic g.47601156G>T g.47374017G>T - - EPCAM_000046 - Salomon 2014 - - Germline - - - - - Mamata Sivagnanam
+/. 2 3 c.412C>T r.(?) p.(Arg138*) - pathogenic g.47601174C>T g.47374035C>T - - EPCAM_000036 - Sivagnanam 2010, AlMahamed 2017 - - Germline - - - - - Mamata Sivagnanam
+/. 1 3i_9_ c.426-544_*3904del r.? p.? - pathogenic (dominant) g.47601829_47617656del g.47374690_47390518del - - EPCAM_000066 1 more item PubMed: Kuiper 2011 - - Germline - - - - - Mamata Sivagnanam
+/. 2 3i c.426-1G>A r.spl p.? - pathogenic g.47602372G>A g.47375233G>A - - EPCAM_000035 - Sivagnanam 2008, Shakhnovic 2014 - - Germline - - - - - Mamata Sivagnanam
+/. 1 4 c.437T>A r.(?) p.(Ile146Asn) - pathogenic g.47602384T>A g.47375245T>A - - EPCAM_000049 unknown variant 2nd allele d'Apolito 2016 - - Germline - - - - - Mamata Sivagnanam
+/. 1 4 c.467del r.(?) p.(Pro156Leufs*54) - pathogenic g.47602414del g.47375275del 467delC - EPCAM_000058 - Salomon 2014 - - Germline - - - - - Mamata Sivagnanam
+/. 11 4i c.491+1G>A r.426_491del, r.spl, r.spl? p.Trp143_Thr164del, p.? - pathogenic g.47602439G>A g.47375300G>A IVS4+1G>A - EPCAM_000003 SNP homozygosity mapping; RNA duodenal; IHC intestinal tissue EPCAM decreased, 1 more item PubMed: Sivagnanam 2008, Sivagnanam 2008, Ko 2010, Sivagnanam, submitted, 1 more item - rs606231203 Germline - 1/2795 individuals - - - Johan den Dunnen, Mamata Sivagnanam, Mohammed Faruq
+/. 2 4i_9_ c.491+529_*874del r.? p.? - pathogenic (dominant) g.47602967_47614626del g.47375828_47387488del - - EPCAM_000067 1 more item PubMed: Kuiper 2011 - - Germline - - - - - Mamata Sivagnanam
+/. 2 4i_9_ c.492-509_*13721del r.? p.? - pathogenic (dominant) g.47603644_47627473del g.47376505_47400335del AC079775.6:g.71494_95323delins9 - EPCAM_000068 1 more item PubMed: Van der Klift 2005, PubMed: Kuiper 2011 - - Germline - - - - - Mamata Sivagnanam
-?/., -/., +/. 3 4i c.492-5T>C r.spl? p.? - likely benign, benign, pathogenic g.47604148T>C g.47377009T>C EPCAM(NM_002354.2):c.492-5T>C - EPCAM_000015 VKGL data sharing initiative Nederland Sivagnanam, submitted - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc, Mamata Sivagnanam
+/. 7 4i c.492-2A>G r.spl p.? - pathogenic g.47604151A>G g.47377012A>G - - EPCAM_000037 - Salomon 2011, Salomon 2014 - - Germline - - - - - Mamata Sivagnanam
+/. 2 4i c.492-1G>A r.spl p.? - pathogenic g.47604152G>A g.47377013G>A - - EPCAM_000047 - Salomon 2014, Sivagnanam, submitted - - Germline - - - - - Mamata Sivagnanam
+/. 1 4i_5i c.(491+1_492-1)_(555+1_556-1)del r.(492_555del) p.(Ala165Metfs*24) - pathogenic g.(47602439_47604152)_(47604217_47606091)del - - - EPCAM_000030 - Salomon 2014 - - Germline - - - - - Mamata Sivagnanam
+/. 28 5 c.499dup r.(?) p.(Gln167Profs*21), p.(Gln167Serfs*21) - pathogenic g.47604160dup g.47377021dup 498insC - EPCAM_000024 - Al Mayouf 2009, Salomon 2011, Salomon 2014, AlMahamed 2017 - - Germline - - - - - Mamata Sivagnanam
+/. 1 5 c.509_511del r.(?) p.(Ile170del) - pathogenic g.47604170_47604172del g.47377031_47377033del 509_511delTCA - EPCAM_000052 - Sivagnanam, submitted - - Germline - - - - - Mamata Sivagnanam
-?/. 1 - c.515C>T r.(?) p.(Thr172Met) - likely benign g.47604176C>T g.47377037C>T EPCAM(NM_002354.2):c.515C>T (p.T172M) - EPCAM_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 4 5i c.555+1G>C r.spl p.?, p.(Ala165Metfs*23) - pathogenic g.47604217G>C g.47377078G>C - - EPCAM_000040 - Salomon 2014, Sivagnanam, submitted - - Germline - - - - - Mamata Sivagnanam
+/. 3 5i_9_ c.555+402_*1220del r.? p.? - pathogenic (dominant) g.47604618_47614972del g.47377479_47387834del AC079775.6:g.72468_82822del10355 - EPCAM_000069 1 more item PubMed: Rossi 2017, PubMed: Kovacs 2009 - - Germline - - - - - Mamata Sivagnanam
+/. 2 5i_9_ c.555+901_*4492del r.? p.? - pathogenic (dominant) g.47605117_47618244del g.47377978_47391106del - - EPCAM_000070 1 more item PubMed: Kuiper 2011 - - Germline - - - - - Mamata Sivagnanam
+/. 2 5i_9_ c.555+926_*14226del r.-358_555::NM_000251.2:r.212_*279, r.556_*405delinsNM_000251.2:c.212_*272 p.Tyr186Glufs*13 - pathogenic g.47605142_47627978del g.47378003_47400839del c.555+894_*14194del - EPCAM_000002 haplotype differs from FamHK-A; fusion transcript EPCAM/MSH2, 1 more item PubMed: Ligtenberg 2009 - - Germline yes - - - - Johan den Dunnen
+/. 1 5i_9_ c.555+927_*14226del r.? p.? - pathogenic (dominant) g.47605143_47627978del g.47378004_47400840del - - EPCAM_000071 1 more item PubMed: Kuiper 2011 - - Germline - - - - - Mamata Sivagnanam
+/. 1 5i_9_ c.556-531_*872del r.? p.? - pathogenic (dominant) g.47605561_47614624del g.47378422_47387486del - - EPCAM_000072 1 more item PubMed: Spaepen 2013 - - Germline - - - - - Mamata Sivagnanam
+/. 1 5i_9_ c.556-439_*415del r.556_*415delinsNM_000251.2:367_*279 p.Tyr186_Ala314delinsNP_000242.1:Ala123_Thr934 - pathogenic (dominant) g.47605653_47636714del g.47378514_47409575del - - EPCAM_000063 31062 bp deletion C_AluSp to C_AluSc5; fusion transcript and protein detected PubMed: Sekine 2017 - - Germline - - - - - Mamata Sivagnanam
+/. 15 5i c.556-14A>G r.spl, r.(=) p.(=), p.(Tyr186_Asp219del) ACMG pathogenic g.47606078A>G g.47378939A>G - - EPCAM_000007 unknown variant 2nd allele Sivagnanam 2008; Schnell 2013, Salomon 2014, Pegas 2014, Sivagnanam, submitted, d'Apolito 2016, 1 more item - - Germline - - - - - Mamata Sivagnanam, Daniel Trujillano
+/. 2 6 c.579del r.(?) p.(Ile193Metfs*17) - pathogenic g.47606115del g.47378976del 579delT - EPCAM_000053 - Sivagnanam, submitted - - Germline - - - - - Mamata Sivagnanam
?/. 1 6 c.583C>G r.(?) p.(Leu195Val) - VUS g.47606119C>G g.47378980C>G - - EPCAM_000086 - - - - Germline - - - - - Mev Dominguez-Valentin
+/. 1 6 c.589C>T r.(?) p.(Gln197*) - pathogenic g.47606125C>T g.47378986C>T - - EPCAM_000054 - Sivagnanam, submitted - - Germline - - - - - Mamata Sivagnanam
+/. 2 6 c.589del r.(?) p.(Gln197Lysfs*13) - pathogenic g.47606125del g.47378986del 589delT - EPCAM_000061 - Sivagnanam, submitted - - Germline - - - - - Mamata Sivagnanam
+/. 4 6 c.654del r.(?) p.(Asp219Metfs*15) - pathogenic g.47606190del g.47379051del 654delA - EPCAM_000048 - Salomon 2014, d'Apolito 2016 - - Germline - - - - - Mamata Sivagnanam
+/. 1 7 c.757G>A r.0 p.(Asp253Asn) - pathogenic g.47607007G>A g.47379868G>A - - EPCAM_000055 - Sivagnanam, submitted - - Germline - - - - - Mamata Sivagnanam
+?/. 1 - c.823del r.(?) p.(Val275Trpfs*2) - likely pathogenic g.47607073del - 823delG - EPCAM_000095 - - - - Germline - - - - - Sha Hong
?/., -/. 2 - c.831A>G r.(?) p.(Ile277Met) - VUS, benign g.47607081A>G g.47379942A>G EPCAM(NM_002354.2):c.831A>G (p.I277M) - EPCAM_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/. 1 7i_9_ c.858+1211_*4529del r.? p.? - pathogenic (dominant) g.47608319_47618281del g.47381180_47391143del c.85811211_4529del - EPCAM_000073 1 more item PubMed: Kuiper 2011 - - Germline - - - - - Mamata Sivagnanam
+/. 1 7i_9_ c.858+1244_*4562del r.? p.? - pathogenic (dominant) g.47608352_47618314del g.47381213_47391176del - - EPCAM_000025 1 more item PubMed: Kuiper 2011 - - Germline - - - - - Mamata Sivagnanam
+/. 1 7i_9_ c.858+1358_*4793delinsAG r.? p.? - pathogenic (dominant) g.47608466_47618545delinsAG g.47381327_47391407del c.858+1364_*4793delinsAG - EPCAM_000074 1 more item PubMed: Kuiper 2011 - - Germline - - - - - Mamata Sivagnanam
+/. 10 7i_9_ c.858+2478_*4507del r.? p.? - pathogenic (dominant) g.47609586_47618259del g.47382447_47391120del AC079775.6:g.77436_86109del8674 - EPCAM_000075 8674 bp deletion +_AluSp to +_AluSp PubMed: Kuiper 2011, PubMed: Dymerska 2017, PubMed: Kovacs 2009 - - Germline - - - - - Mamata Sivagnanam
+/. 2 7i_9_ c.858+2488_*7469del r.? p.? - pathogenic (dominant) g.47609596_47621221del g.47382457_47394083del - - EPCAM_000076 1 more item PubMed: Mur 2014 - - Germline - - - - - Mamata Sivagnanam
+/. 4 7i_9_ c.858+2568_*4596del r.? p.? - pathogenic (dominant) g.47609676_47618348del g.47382537_47391210del - - EPCAM_000077 1 more item PubMed: Mur 2014, PubMed: Guarinos 2010 - - Germline - - - - - Mamata Sivagnanam
+/. 1 7i_9_ c.859-2524_*10762del r.? p.? - pathogenic (dominant) g.47609781_47624514del g.47382642_47397376del AC079775.6:g.77631_92364del14734 - EPCAM_000078 1 more item PubMed: Kovacs 2009 - - Germline - - - - - Mamata Sivagnanam
+/. 1 7i_9_ c.859-1860_*25547del r.0? p.0? - pathogenic (dominant) g.47610449_47639303del g.47383310_47412164del - - EPCAM_000062 28854 bp deletion +_AluY to +_AluSx PubMed: Perez-Cabornero 2011 - - Germline - - - - - Mamata Sivagnanam
+/. 1 7i_9_ c.859-1682_*2116del r.? p.? - pathogenic (dominant) g.47610623_47615868del g.47383484_47388730del - - EPCAM_000079 1 more item PubMed: Kuiper 2011 - - Germline - - - - - Mamata Sivagnanam
+/. 1 7i_9_ c.859-1605_*5826del r.? p.? - pathogenic (dominant) g.47610700_47619578del g.47383561_47392440del c.859-1605_5862del - EPCAM_000080 1 more item PubMed: Kuiper 2011 - - Germline - - - - - Mamata Sivagnanam
+/. 18 7i_9_ c.859-1462_*1999del r.?, r.[-358_858::NM_000251.2:r.212_*279, -358_858::NM_000251.2:r.-4237_-4127ins212_*279], 1 more item p.?, p.[Val287GlufsX13, Val287_Ala314delins37insMSH2:Ala72_Thr934] - pathogenic (dominant), pathogenic g.47610843_47615751del g.47383704_47388613del, g.47383704_47388612del c.859-1462_*1999del, MSH2:c.373C>T + EPCAM:c.859-1462_*1999del - EPCAM_000001 4 more items PubMed: Kuiper 2011, PubMed: Lynch 2011, PubMed: Niessen 2009, PubMed: Ligtenberg 2009, 1 more item - - Germline yes - - - - Mamata Sivagnanam, Johan den Dunnen, INSiGHT group
+/. 1 7i_9_ c.859-696_*3914del r.? p.? - pathogenic (dominant) g.47611609_47617666del g.47384470_47390528del AC079775.6:g.79459_85516del6058 - EPCAM_000081 1 more item PubMed: Kovacs 2009 - - Germline - - - - - Mamata Sivagnanam
+/. 1 7i_9_ c.859-692_*1991del r.? p.? - pathogenic (dominant) g.47611613_47615743del g.47384474_47388604del 859-672_*2170del - EPCAM_000065 4130 bp deletion C_AluSx1 to C_AluSq2; MSH2 gene not expressed (methylated) PubMed: Eguchi 2015 - - Germline - - - - allele methylated Mamata Sivagnanam
+/. 5 7i_9_ c.859-689_*14697del r.? p.? - pathogenic (dominant) g.47611616_47628449del g.47384477_47401311del AC079775.6:g.79465_96299del16834 - EPCAM_000082 1 more item PubMed: Kuiper 2011, PubMed: Spaepen 2013, PubMed: Van der Klift 2005 - - Germline - - - - - Mamata Sivagnanam
+/. 1 7i_9_ c.859-670_*530del r.? p.? - pathogenic (dominant) g.47611635_47614282del g.47384496_47387144del - - EPCAM_000083 1 more item PubMed: Kuiper 2011 - - Germline - - - - - Mamata Sivagnanam
+/. 1 7i_9_ c.859-645_*10911del r.? p.? - pathogenic (dominant) g.47611660_47624663del g.47384521_47397525del AC079775.6:g.79509_92513del13004 - EPCAM_000084 1 more item PubMed: Van der Klift 2005 - - Germline - - - - - Mamata Sivagnanam
+/. 1 7i_9_ c.859-353_*618del r.? p.? - pathogenic (dominant) g.47611952_47614370del g.47384813_47387232del - - EPCAM_000085 1 more item PubMed: Kuiper 2011 - - Germline - - - - - Mamata Sivagnanam
?/. 1 7i c.859-81C>T r.(?) p.(=) - VUS g.47612224C>T g.47385085C>T - - EPCAM_000029 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - Angela Solano & F Cardoso
-/., -?/. 2 - c.859-7C>T r.(=) p.(=) - benign, likely benign g.47612298C>T g.47385159C>T EPCAM(NM_002354.2):c.859-7C>T - EPCAM_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
-/. 2 - c.859-6A>G r.(=) p.(=) - benign g.47612299A>G - EPCAM(NM_002354.2):c.859-6A>G - EPCAM_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_VUmc
-/. 1 - c.903+516_903+517insGT r.(=) p.(=) - benign g.47612865_47612866insGT g.47385726_47385727insGT EPCAM(NM_002354.2):c.903+515_903+516insTG - EPCAM_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-/. 1 - c.903+529G>A r.(=) p.(=) - benign g.47612878G>A g.47385739G>A EPCAM(NM_002354.2):c.903+529G>A - EPCAM_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-?/. 1 - c.903+573T>C r.(=) p.(=) - likely benign g.47612922T>C - EPCAM(NM_002354.2):c.903+573T>C - EPCAM_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-/. 2 - c.904-12T>C r.(?), r.(=) p.(=) - benign g.47613699T>C g.47386560T>C EPCAM(NM_002354.2):c.904-12T>C - EPCAM_000021 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Carlos Vaccaro, VKGL-NL_AMC
+/. 2 8i_9_ c.(903+1_904-1)_(*1_?)del r.? p.? - pathogenic g.(47612350_47613710)_(47643569_47656880)del, g.(47612350_47613710)_(47613753_47630323)del - deletion EPCAM exon 9 to MSH2 exon 6 - EPCAM_000005, EPCAM_000087 Suppresses expression of MSH2 - - - Germline - - - - - INSiGHT group, Nancy Uhrhammer
-/. 1 - c.*36G>A r.(=) p.(=) - benign g.47613788G>A g.47386649G>A - - EPCAM_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*73C>T r.(=) p.(=) - likely benign g.47613825C>T g.47386686C>T - - EPCAM_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*74G>A r.(=) p.(=) - likely benign g.47613826G>A g.47386687G>A - - EPCAM_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., +/., -?/. 4 9 c.*118T>C r.(=), r.spl?, r.(?) p.(=) - benign, pathogenic, likely benign g.47613870T>C g.47386731T>C EPCAM(NM_002354.2):c.*118T>C, 945+118T>C - EPCAM_000022 VKGL data sharing initiative Nederland Sivagnanam, submitted, contributed by Dept. of Dr Vaccaro - - CLASSIFICATION record, Germline - - - - - VKGL-NL_NKI, Mamata Sivagnanam, Angela Solano & F Cardoso, VKGL-NL_Nijmegen
-?/. 1 - c.*246G>A r.(=) p.(=) - likely benign g.47613998G>A g.47386859G>A - - EPCAM_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.*265A>T r.(=) p.(=) - benign g.47614017A>T g.47386878A>T EPCAM(NM_002354.2):c.*265A>T - EPCAM_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_NKI
-/. 1 - c.*572C>G r.(?) p.(=) - benign g.47614324C>G g.47387185C>G - - EPCAM_000093 - - - - Germline - - - - - Carlos Vaccaro
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