View all genomic variants

15645 entries on 157 pages. Showing entries 1 - 100.
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Variant ID     

Effect     

Chr     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Owner     
0000004874 ?/. 1 g.45797846G>A - MUTYH_000001 - - Germline (inherited) ? Esther Sarasola
0000018153 +/. 2 g.(47600710_47600946)_(47710089_?)del {microatt:1003310, Desiree du Sart} chr2_001648 - - Germline (inherited) - InSiGHT group
0000018161 +/. 2 g.(47612350_47613710)_(47643569_47656880)del - chr2_001652 - - Germline (inherited) - InSiGHT group
0000002494 +/+ 2 g.(?_47630263)_(47657081_47672686)del Liu 2001, {OMIM600258:0001} MSH2_000038 - - Germline (inherited) yes Johan den Dunnen
0000002495 +/+ 2 g.(?_47630263)_(47657081_47672686)del Liu 2001, {OMIM600258:0001} MSH2_000038 - - Germline (inherited) yes Johan den Dunnen
0000002762 +?/+ 2 g.? - chr2_000033 - - Germline (inherited) - Carli Tops
0000002763 ?/+ 2 g.? Nilbert et al., 2008 chr2_000033 - deletion entire gene Germline (inherited) - Michael Woods
0000002764 ?/+ 2 g.? - chr2_000033 - - Germline (inherited) - Amanda Spurdle
0000002765 ?/+ 2 g.? Kets et al., 2006 chr2_000033 - deletion of exon 1-2 Germline (inherited) - Michael Woods
0000002766 ?/+ 2 g.? Overbeek et al., 2007 chr2_000033 - - Germline (inherited) - Michael Woods
0000002767 -/? 2 g.? {microatt:1002595, Carli Tops} chr2_000033 - deletion of 21.6 kb around exon 1+2, in cis with c.2008G>A,p.Gly670Arg Germline (inherited) - InSiGHT group
0000002768 -/? 2 g.? {microatt:1003589, Daniela Barana} chr2_000033 - - Germline (inherited) - InSiGHT group
0000002769 -/? 2 g.? Ligtenberg et al., 2009 chr2_000033 - - Germline (inherited) - Johan den Dunnen
0000002770 -/? 2 g.? Ligtenberg et al., 2009 chr2_000033 - - Germline (inherited) - Johan den Dunnen
0000002771 -/? 2 g.? Ligtenberg et al., 2009 chr2_000033 - - Germline (inherited) - Johan den Dunnen
0000002772 -/? 2 g.? Ligtenberg et al., 2009 chr2_000033 - - Germline (inherited) - Johan den Dunnen
0000002773 +/? 2 g.? Ligtenberg et al., 2009 chr2_000033 - - Germline (inherited) - Johan den Dunnen
0000002774 ?/? 2 g.? Ligtenberg et al., 2009 chr2_000033 - - Germline (inherited) - Johan den Dunnen
0000002775 ?/? 2 g.? - chr2_000033 - Submitter has reported the nomenclature for deletion of MSH2 exon 1 to 3 not MSH6 Germline (inherited) - José Luis Soto
0000002833 ?/? 2 g.? Maxwell et al., 2008 chr2_000033 - identified in a glioblastoma multiforme tumour sample Somatic - Michael Woods
0000002834 ?/? 2 g.? - chr2_000033 - - Germline (inherited) - Felipe Silva
0000002835 ?/? 2 g.? {dbSNP1042821 chr2_000033 - - Germline (inherited) - Felipe Silva
0000003131 ?/? 2 g.? Maxwell et al., 2008 chr2_000033 - identified in a glioblastoma multiforme tumour sample Somatic - Michael Woods
0000003958 ?/? 2 g.? Plaschke et al., 2003 chr2_000033 - - Germline (inherited) - Michael Woods
0000003959 ?/? 2 g.? Plaschke et al., 2004 chr2_000033 - 4.9 kb dup exon 4-5; aberrant splicing Germline (inherited) - Michael Woods
0000004035 +/? 2 g.? - chr2_000033 - - Germline (inherited) - Prof. Dr. med. Peter Propping
0000004285 ?/? 2 g.? {microatt:1003203, Desiree du Sart} chr2_000033 - - Germline (inherited) - InSiGHT group
0000004286 ?/? 2 g.? {microatt:1003281, Desiree du Sart} chr2_000033 - - Germline (inherited) - InSiGHT group
0000004287 ?/? 2 g.? {microatt:1003159, Desiree du Sart} chr2_000033 - - Germline (inherited) - InSiGHT group
0000004288 ?/? 2 g.? {microatt:1003165, Desiree du Sart} chr2_000033 - - Germline (inherited) - InSiGHT group
0000004289 ?/? 2 g.? {microatt:1003196, Desiree du Sart} chr2_000033 - - Germline (inherited) - InSiGHT group
0000004290 ?/? 2 g.? {microatt:1003281, Desiree du Sart} chr2_000033 - - Germline (inherited) - InSiGHT group
0000004291 ?/? 2 g.? {microatt:1003159, Desiree du Sart} chr2_000033 - - Germline (inherited) - InSiGHT group
0000004292 ?/? 2 g.? {microatt:1003165, Desiree du Sart} chr2_000033 - - Germline (inherited) - InSiGHT group
0000004293 ?/? 2 g.? {microatt:1003196, Desiree du Sart} chr2_000033 - - Germline (inherited) - InSiGHT group
0000004294 ?/? 2 g.? {microatt:1003281, Desiree du Sart} chr2_000033 - - Germline (inherited) - InSiGHT group
0000004295 ?/? 2 g.? {microatt:1003203, Desiree du Sart} chr2_000033 - - Germline (inherited) - InSiGHT group
0000004296 ?/? 2 g.? {microatt:1003159, Desiree du Sart} chr2_000033 - - Germline (inherited) - InSiGHT group
0000004297 ?/? 2 g.? {microatt:1003165, Desiree du Sart} chr2_000033 - - Germline (inherited) - InSiGHT group
0000004298 ?/? 2 g.? {microatt:1003196, Desiree du Sart} chr2_000033 - - Germline (inherited) - InSiGHT group
0000004299 ?/? 2 g.? {microatt:1003204, Desiree du Sart} chr2_000033 - - Germline (inherited) - InSiGHT group
0000004300 ?/? 2 g.? {microatt:1003281, Desiree du Sart} chr2_000033 - - Germline (inherited) - InSiGHT group
0000004301 ?/? 2 g.? {microatt:1003159, Desiree du Sart} chr2_000033 - - Germline (inherited) - InSiGHT group
0000004302 ?/? 2 g.? {microatt:1003165, Desiree du Sart} chr2_000033 - - Germline (inherited) - InSiGHT group
0000004303 ?/? 2 g.? {microatt:1003196, Desiree du Sart} chr2_000033 - - Germline (inherited) - InSiGHT group
0000004304 ?/? 2 g.? {microatt:1003281, Desiree du Sart} chr2_000033 - - Germline (inherited) - InSiGHT group
0000004305 ?/? 2 g.? {microatt:1002880, Mensenkamp and Ligtenberg} chr2_000033 - - Germline (inherited) - InSiGHT group
0000005023 ?/. 2 NA - EPCAM_000001 - - Germline (inherited) - Dominguez-Valentin M
0000005024 ?/. 2 NA - EPCAM_000001 - - Germline (inherited) - Dominguez-Valentin M
0000014281 +/+ 2 g.4765881_47656882ins173 {PMID08574961:Liu et al., 1996} chr2_001103 - - Germline (inherited) - InSiGHT group
0000012279 ?/+ 2 g.47554933_47699909del {PMID15872200:Hampel et al., 2005} chr2_000770 - - Germline (inherited) - Michael Woods
0000012280 ?/+ 2 g.47554933_47699909del {PMID16885385:Hampel et al., 2006} chr2_000770 - - Germline (inherited) - Michael Woods
0000012255 ?/+ 2 g.47583175_47667707del {PMID12938096:Nakagawa et al., 2003} chr2_000768 - - Germline (inherited) - Michael Woods
0000012256 ?/+ 2 g.47583175_47667707del {PMID15872200:Hampel et al., 2005} chr2_000768 - - Germline (inherited) - Michael Woods
0000012131 ?/+ 2 g.47595033_47662777del {PMID18330910:Staaf et al., 2008}; {PMID16086322:Charbonnier et al., 2005} chr2_000765 - - Germline (inherited) - Michael Woods
0000012253 ?/+ 2 g.47595033_47662777del {PMID12362848:Nilbert et al., 2002} chr2_000765 - - Germline (inherited) - Michael Woods
0000012254 ?/+ 2 g.47595033_47662777del {PMID17312306:Lagerstedt Robinson et al., 2007}; {PMID14729822:Di Fiore et al., 2004} chr2_000765 - - Germline (inherited) - Michael Woods
0000018154 +/. 2 g.47602439G>A Sivagnanam 2008 chr2_001649 - SNP homozygosity mapping; RNA duodenal; IHC intestinal tissue EPCAM decreased Germline (inherited) - Johan den Dunnen
0000018155 +/. 2 g.47605142_47627978del Ligtenberg 2009 chr2_001650 - linked family, 22.8 Kb deletion; fusion transcript EPCAM/MSH2; MSH2 promoter methylation; haplotype differs from FamHK-A Germline (inherited) yes Johan den Dunnen
0000018156 +/. 2 g.47605142_47627978del Ligtenberg 2009 chr2_001650 - haplotype differs from FamHK-A; fusion transcript EPCAM/MSH2 Germline (inherited) - Johan den Dunnen
0000018152 +/. 2 g.47606078A>G Copy of Trujillano submitted to LOVD shared database chr2_001647 - - Germline (inherited) - LOVD_Shared
0000018157 +/. 2 g.47610843_47615751del Ligtenberg 2009 chr2_001651 - 4909 bp deletion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes; fusion transcript EPCAM/MSH2; MSH2 variants in tumor Germline (inherited) yes Johan den Dunnen
0000018158 +/. 2 g.47610843_47615751del Ligtenberg 2009 chr2_001651 - 4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes Germline (inherited) yes Johan den Dunnen
0000018159 +/. 2 g.47610843_47615751del Ligtenberg 2009 chr2_001651 - 4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes; wt allele lost in tumor Germline (inherited) - Johan den Dunnen
0000018160 +/. 2 g.47610843_47615751del Ligtenberg 2009 chr2_001651 - 4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes Germline (inherited) - Johan den Dunnen
0000018162 +/. 2 g.47610843_47615751del {microatt:1002906, Mensenkamp and Ligtenberg} chr2_001651 - - Germline (inherited) - InSiGHT group
0000012057 ?/+ 2 g.47618487_47650860delins155 {PMID15942939:van der Klift et al., 2005} chr2_000754 - - Germline (inherited) - Juul Wijnen
0000012058 ?/+ 2 g.47618487_47650860delins155 {PMID15942939:van der Klift et al., 2005} chr2_000754 - - Germline (inherited) - Juul Wijnen
0000012227 ?/+ 2 g.47618487_47650860delins155 {PMID17250661:Stella et al., 2007} chr2_000754 - - Germline (inherited) - Michael Woods
0000012228 ?/+ 2 g.47618487_47650860delins155 {PMID17250661:Stella et al., 2007} chr2_000754 - - Germline (inherited) - Michael Woods
0000012236 ?/+ 2 g.47618487_47650860delins155 {PMID14994245:Barana et al., 2004} chr2_000754 - - Germline (inherited) - Michael Woods
0000012170 ?/+ 2 g.47625602_47636880del {PMID12694232:Pyatt et al., 2003} chr2_000766 - - Germline (inherited) - Michael Woods
0000012171 ?/+ 2 g.47625602_47636880del {PMID12938096:Nakagawa et al., 2003} chr2_000766 - - Germline (inherited) - Michael Woods
0000012179 ?/+ 2 g.47628578_47638433del {PMID17250661:Stella et al., 2007} chr2_000767 - - Germline (inherited) - Michael Woods
0000012180 ?/+ 2 g.47628578_47638433del {PMID17250661:Stella et al., 2007} chr2_000767 - - Germline (inherited) - Michael Woods
0000012066 ?/+ 2 g.47629375_47651274del {PMID15942939:van der Klift et al., 2005}; {PMID12658575:Wagner et al., 2003} chr2_000756 - - Germline (inherited) - Juul Wijnen
0000012059 ?/+ 2 g.47629508_47649552del {PMID15942939:van der Klift et al., 2005} chr2_000755 - - Germline (inherited) - Juul Wijnen
0000012060 ?/+ 2 g.47629508_47649552del {PMID15942939:van der Klift et al., 2005} chr2_000755 - - Germline (inherited) - Juul Wijnen
0000012061 ?/+ 2 g.47629508_47649552del {PMID15942939:van der Klift et al., 2005} chr2_000755 - - Germline (inherited) - Juul Wijnen
0000012062 ?/+ 2 g.47629508_47649552del {PMID15942939:van der Klift et al., 2005} chr2_000755 - - Germline (inherited) - Juul Wijnen
0000012063 ?/+ 2 g.47629508_47649552del {PMID15942939:van der Klift et al., 2005} chr2_000755 - - Germline (inherited) - Juul Wijnen
0000012064 ?/+ 2 g.47629508_47649552del {PMID15942939:van der Klift et al., 2005} chr2_000755 - - Germline (inherited) - Juul Wijnen
0000012065 ?/+ 2 g.47629508_47649552del {PMID15942939:van der Klift et al., 2005} chr2_000755 - - Germline (inherited) - Juul Wijnen
0000012229 ?/+ 2 g.47629508_47649552del {PMID14871915:Lynch et al., 2004} chr2_000755 - - Germline (inherited) - Michael Woods
0000012230 ?/+ 2 g.47629508_47649552del {PMID12938096:Nakagawa et al., 2003} chr2_000755 - - Germline (inherited) - Michael Woods
0000012231 ?/+ 2 g.47629508_47649552del {PMID16143124:Baudhuin et al., 2005} chr2_000755 - - Germline (inherited) - Michael Woods
0000012232 ?/+ 2 g.47629508_47649552del {PMID16353207:Lynch et al., 2006} chr2_000755 - - Germline (inherited) - Michael Woods
0000012233 ?/+ 2 g.47629508_47649552del {PMID16885385:Hampel et al., 2006} chr2_000755 - - Germline (inherited) - Michael Woods
0000012234 ?/+ 2 g.47629508_47649552del {PMID18381419:Clendenning et al., 2008}; {PMID18809606:Hampel et al., 2008} chr2_000755 - - Germline (inherited) - Michael Woods
0000012235 ?/+ 2 g.47629508_47649552del {PMID12658575:Wagner et al., 2003} chr2_000755 - - Germline (inherited) - Michael Woods
0000011999 ?/- 2 g.47629898T>G {PMID17417778:Schafmayer et al., 2007} chr2_000743 - - Germline (inherited) - Michael Woods
0000012000 ?/- 2 g.47629898T>G {dbSNP1863332} chr2_000743 - - Germline (inherited) - Michael Woods
0000012001 ?/? 2 g.47630106G>C {PMID11782355:Shin et al., 2002} chr2_000744 - Functional studies indicated that activity increased by 466% Germline (inherited) - Michael Woods
0000012002 ?/? 2 g.47630106G>C {PMID15365995:Shin et al., 2004} chr2_000744 - Gene regulation defect Germline (inherited) - Michael Woods
0000012003 ?/? 2 g.47630141C>T {PMID15365995:Shin et al., 2004} chr2_000745 - Authors describe this as a gene regulation defect Germline (inherited) - Michael Woods
0000012004 ?/? 2 g.47630141C>T {PMID11782355:Shin et al., 2002} chr2_000745 - Functional studies indicated that activity decreased by 77% Germline (inherited) - Michael Woods
0000013569 ?/? 2 g.47630146C>A - chr2_001020 - - Unknown - Tatiane Pastor
0000012005 ?/- 2 g.47630213T>C {PMID18186537:Chen et al., 2008} chr2_000746 - - Germline (inherited) - Michael Woods
0000012006 ?/- 2 g.47630213T>C {PMID18186537:Chen et al., 2008} chr2_000746 - - Germline (inherited) - Michael Woods
0000012007 ?/- 2 g.47630213T>C {PMID18547406:Christensen et al., 2008} chr2_000746 - Authors describe this variant as not leading to an increased susceptibility to sporadic colorectal cancer in the Danish population. Germline (inherited) - Michael Woods
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