Full data view for gene MSH2


MSH2 variants classified by the InSiGHT consortium: criteria used for classification are available here. We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.
Information The variants shown are described using the NM_000251.2 transcript reference sequence.

7814 entries on 79 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.(?_-68)_(1076+1_1077-1)del r.(?) p.? Unknown - pathogenic g.(?_47630263)_(47643569_47656880)del - (?_-68)_1076+?del Deletion exons 1–6 - MSH2_001644 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-68)_(1076+1_1077-1)del r.(?) p.? Unknown - pathogenic g.(?_47630263)_(47643569_47656880)del - (?_-68)_1076+?del Deletion exons 1–6 - MSH2_001644 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-68)_(1076+1_1077-1)del r.(?) p.? Unknown - pathogenic g.(?_47630263)_(47643569_47656880)del - (?_-68)_1076+?del Deletion exons 1–6 - MSH2_001644 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-68)_(1076+1_1077-1)del r.(?) p.? Unknown - pathogenic g.(?_47630263)_(47643569_47656880)del - (?_-68)_1076+?del Deletion exons 1–6 - MSH2_001644 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-68)_(1076+1_1077-1)del r.(?) p.? Unknown - pathogenic g.(?_47630263)_(47643569_47656880)del - (?_-68)_1076+?del Deletion exons 1–6 - MSH2_001644 - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-68)_(1076+1_1077-1)del r.(?) p.? Unknown - pathogenic g.(?_47630263)_(47643569_47656880)del - (?_-68)_1076+?del Deletion exons 1–6 - MSH2_001644 - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-68)_(1076+1_1077-1)del r.(?) p.? Unknown - pathogenic g.(?_47630263)_(47643569_47656880)del - (?_-68)_1076+?del Deletion exons 1–6 - MSH2_001644 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-68)_(1076+1_1077-1)del r.(?) p.? Unknown - pathogenic g.(?_47630263)_(47643569_47656880)del - (?_-68)_1076+?del Deletion exons 1–6 - MSH2_001644 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-68)_(1076+1_1077-1)del r.(?) p.? Unknown - pathogenic g.(?_47630263)_(47643569_47656880)del - (?_-68)_1076+?del Deletion exons 1–6 - MSH2_001644 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-68)_(1076+1_1077-1)del r.(?) p.? Unknown - pathogenic g.(?_47630263)_(47643569_47656880)del - (?_-68)_1076+?del Deletion exons 1–6 - MSH2_001644 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-68)_(1276+1_1277-1)del r.(?) p.? Unknown - pathogenic g.(?_47630263)_(47657081_47672686)del - (?_-68)_1276+?del Deletion exons 1–7 - MSH2_001645 - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-68)_(1276+1_1277-1)del r.(?) p.? Unknown - pathogenic g.(?_47630263)_(47657081_47672686)del - (?_-68)_1276+?del Deletion exons 1–7 - MSH2_001645 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-68)_(1386+1_1387-1)del r.(?) p.? Unknown - pathogenic g.(?_47630263)_(47672797_47690169)del - (?_-68)_1386+?del Deletion exons 1–8 - MSH2_001646 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-68)_(1386+1_1387-1)del r.(?) p.? Unknown - pathogenic g.(?_47630263)_(47672797_47690169)del - (?_-68)_1386+?del Deletion exons 1–8 - MSH2_001646 - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-68)_(1386+1_1387-1)del r.(?) p.? Unknown - pathogenic g.(?_47630263)_(47672797_47690169)del - (?_-68)_1386+?del Deletion exons 1–8 - MSH2_001646 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-68)_(1386+1_1387-1)del r.(?) p.? Unknown - pathogenic g.(?_47630263)_(47672797_47690169)del - (?_-68)_1386+?del Deletion exons 1–8 - MSH2_001646 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-68)_(1386+1_1387-1)del r.(?) p.? Unknown - pathogenic g.(?_47630263)_(47672797_47690169)del - (?_-68)_1386+?del Deletion exons 1–8 - MSH2_001646 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-68)_(1386+1_1387-1)del r.(?) p.? Unknown - pathogenic g.(?_47630263)_(47672797_47690169)del - (?_-68)_1386+?del Deletion exons 1–8 - MSH2_001646 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-68)_(1386+1_1387-1)del r.(?) p.? Unknown - pathogenic g.(?_47630263)_(47672797_47690169)del - (?_-68)_1386+?del Deletion exons 1–8 - MSH2_001646 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_-68)_(1661+1_1662-1)del r.(?) p.? Unknown - pathogenic g.(?_47630263)_(47693948_47698103)del - (?_-68)_1661+?del Deletion exons 1–11 - MSH2_001647 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/+ 1_11i c.-75398_1759+1708del r.spl p.? Unknown - pathogenic g.47554933_47699909del - - - MSH2_001624 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1_11i c.-75398_1759+1708del r.spl p.(=) Unknown - pathogenic g.47554933_47699909del - Deletion of Exon 1-11; g.26446264-?_26514134+?del - MSH2_001624 - PubMed: Hampel 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1_11i c.-75398_1759+1708del r.spl p.(=) Unknown - pathogenic g.47554933_47699909del - Deletion of Exon 1-11; g.26370866_26515842del144977 - MSH2_001624 - PubMed: Hampel 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/+ 1_7i c.-47156_1277-4980del r.spl? p.(=) Unknown - pathogenic g.47583175_47667707del - - - MSH2_000856 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1_7i c.-47156_1277-4980del r.spl p.(=) Unknown - pathogenic g.47583175_47667707del - Deletion of Exon 1-7, g.26399108_26483640del84533 (NT_022184) - MSH2_000856 - PubMed: Nakagawa 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1_7i c.-47156_1277-4980del r.spl p.(=) Unknown - pathogenic g.47583175_47667707del - Deletion of Exon 1-7, g.26399108_26483640del84533 (NT_022184) - MSH2_000856 - PubMed: Hampel 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/+ 1_7i c.-35298_1276+5697del r.spl? p.(=) Unknown - pathogenic g.47595033_47662777del - - - MSH2_000938 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1_7i c.-35298_1276+5697del r.spl p.(=) Unknown - pathogenic g.47595033_47662777del - Deletion of Exon 1-7 - MSH2_000938 - PubMed: Staaf 2008; PubMed: Charbonnier 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1_7i c.-35298_1276+5697del r.spl p.(=) Unknown - pathogenic g.47595033_47662777del - Deletion of Exon 1-7 - MSH2_000938 - PubMed: Nilbert 2002 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1_7i c.-35298_1276+5697del r.spl p.(=) Unknown - pathogenic g.47595033_47662777del - Deletion of Exon 1-7 - MSH2_000938 - PubMed: Lagerstedt Robinson 2007; PubMed: Di Fiore 2004 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_4i c.-33687_-16578del r.0? p.0? Unknown - pathogenic (dominant) g.(?_47596644)_(47639700_47641407)del g.(?_47369505)_(47412561_47414268)del - - EPCAM_000064 56290 bp deletion PubMed: Villacis 2017 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 28093616-Pat8 PubMed: Villacis 2017 - - - Brazil - - 0 - - 1 Mamata Sivagnanam
+/. _1 c.-25189_-2353del NM_002354.2:r.-358_555::r.212_*279 p.? Parent #1 - pathogenic g.47605142_47627978del g.47378003_47400839del c.555+894_*14194del - EPCAM_000002 linked family, 22.8 Kb deletion; fusion transcript EPCAM/MSH2; MSH2 promoter methylation; haplotype differs from FamHK-A PubMed: Ligtenberg 2009 - - Germline yes - - 0 - DNA, RNA MLPA, PCR, RT-PCR, SEQ - - CRC - PubMed: Ligtenberg et al., 2009 3-generation family, 3 affecteds - - China - - 0 - - 3 Johan den Dunnen
+/. _1 c.-25189_-2353del r.-125_211delinsNM_002354.2:-358_555] p.? Parent #1 - pathogenic g.47605142_47627978del g.47378003_47400839del c.555+894_*14194del - EPCAM_000002 haplotype differs from FamHK-A; fusion transcript EPCAM/MSH2 PubMed: Ligtenberg 2009 - - Germline - - - 0 - DNA MLPA, PCR, SEQ - - CRC - PubMed: Ligtenberg et al., 2009 - - - China - - 0 - - 1 Johan den Dunnen
+/. _1_3i c.-19886_646-254del r.0? p.0? Unknown - pathogenic (dominant) g.47610445_47639299del g.47383306_47412160del - - EPCAM_000062 28854 bp deletion +_AluY to +_AluSx PubMed: Perez-Cabornero 2011 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 21791569-VA-25 PubMed: Perez-Cabornero 2011 - - - Spain - - 0 - - 1 Mamata Sivagnanam
+/. _1 c.-19488_-14580del r.[NM_002354.2:r.-358_858::212_*279, NM_002354.2:r.-358_858::-4237_-4127ins212_*279] p.? Parent #1 - pathogenic g.47610843_47615751del g.47383704_47388612del - - EPCAM_000001 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 PubMed: Ligtenberg 2009 - - Germline yes - - 0 - DNA, RNA MLPA, RT-PCR, SEQ - - CRC - PubMed: Ligtenberg et al., 2009 5-generation family, 7 affecteds - - Netherlands - - 0 - - 7 Johan den Dunnen
+/. _1 c.-19488_-14580del r.? p.? Parent #1 - pathogenic g.47610843_47615751del g.47383704_47388612del - - EPCAM_000001 4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes PubMed: Ligtenberg 2009 - - Germline yes - - 0 - DNA MLPA, SEQ - - CRC - PubMed: Ligtenberg et al., 2009 - - - Netherlands - - 0 - - 1 Johan den Dunnen
+/. _1 c.-19488_-14580del r.? p.? Parent #1 - pathogenic g.47610843_47615751del g.47383704_47388612del c.859-1462_*1999del - EPCAM_000001 4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes; wt allele lost in tumor PubMed: Ligtenberg 2009 - - Germline - - - 0 - DNA MLPA, SEQ - - CRC - PubMed: Ligtenberg et al., 2009 - - - Netherlands - - 0 - - 1 Johan den Dunnen
+/. _1 c.-19488_-14580del r.? p.? Parent #1 - pathogenic g.47610843_47615751del g.47383704_47388612del c.859-1462_*1999del - EPCAM_000001 4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes PubMed: Ligtenberg 2009 - - Germline - - - 0 - DNA MLPA, SEQ - - CRC - PubMed: Ligtenberg et al., 2009 - - - Netherlands - - 0 - - 1 Johan den Dunnen
+/. _1 c.-19488_-14580del r.? p.? Unknown - pathogenic g.47610843_47615751del g.47383704_47388612del MSH2:c.373C>T + EPCAM:c.859-1462_*1999del - EPCAM_000001 - Mensenkamp and Ligtenberg - - Germline - - - 0 - DNA SEQ, MLPA - - ? - {microatt:1002906, Mensenkamp and Ligtenberg} - M - - - - 0 - - 1 INSiGHT group
+/+ 1_6i c.-11844_1077-6021delins(155) r.spl? p.(=) Unknown - pathogenic g.47618487_47650860delins(155) - - - MSH2_001602 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1_6i c.-11844_1077-6021delins(155) r.spl p.(=) Unknown - pathogenic g.47618487_47650860delins(155) - del ex1_6, 32372 bp - MSH2_001602 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern, SEQ - - ? - PubMed: van der Klift 2005 - ? - Italy - - 0 - - 1 Juul Wijnen
+/. 1_6i c.-11844_1077-6021delins(155) r.spl p.(=) Unknown - pathogenic g.47618487_47650860delins(155) - del ex1_6, 32372 bp - MSH2_001602 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern, SEQ - - ? - PubMed: van der Klift 2005 - ? - Italy - - 0 - - 1 Juul Wijnen
+/. 1_6i c.-11844_1077-6021delins(155) r.spl p.(=) Unknown - pathogenic g.47618487_47650860delins(155) - Deletion of Exon 1-6; g.26440374_26472747 (del 32373 + ins 155) - MSH2_001602 - PubMed: Stella 2007 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1_6i c.-11844_1077-6021delins(155) r.spl p.(=) Unknown - pathogenic g.47618487_47650860delins(155) - Deletion of Exon 1-6; g.26440374_26472747del32373+ins155 - MSH2_001602 - PubMed: Stella 2007 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1_6i c.-11844_1077-6021delins(155) r.spl p.(=) Unknown - pathogenic g.47618487_47650860delins(155) - Deletion of Exon 1-6 - MSH2_001602 - PubMed: Barana 2004 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/+ 1_2i c.-4729_367-353del r.? p.? Unknown - pathogenic g.47625602_47636880del - - - MSH2_000862 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1_2i c.-4729_367-353del r.? p.? Unknown - pathogenic g.47625602_47636880del - Deletion of Exon 1-2 - MSH2_000862 - PubMed: Pyatt 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1_2i c.-4729_367-353del r.? p.? Unknown - pathogenic g.47625602_47636880del - Deletion of Exon 1-2, g.26441535_26452813del11279 (NT_022184) - MSH2_000862 - PubMed: Nakagawa 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/+ 1_3i c.-1753_645+922del r.spl p.? Unknown - pathogenic g.47628578_47638433del - - - MSH2_001625 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1_3i c.-1753_645+922del r.spl p.(=) Unknown - pathogenic g.47628578_47638433del - Deletion of Exon 1-3; g.26444511_26454366 (del 9855) - MSH2_001625 - PubMed: Stella 2007 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1_3i c.-1753_645+922del r.spl p.(=) Unknown - pathogenic g.47628578_47638433del - Deletion of Exon 1-3; g.2644511_26454366del9855 - MSH2_001625 - PubMed: Stella 2007 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/+ 1_6i c.-956_1077-5607del r.spl? p.(=) Unknown - pathogenic g.47629375_47651274del - - - MSH2_001603 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1_6i c.-956_1077-5607del r.spl p.(=) Unknown - pathogenic g.47629375_47651274del - del ex1_6, 21899 bp - MSH2_001603 - PubMed: van der Klift 2005; PubMed: Wagner 2003 - - Germline - - - 0 - DNA Southern, SEQ - - ? - PubMed: van der Klift 2005 - ? - United States Jewish - 0 - - 1 Juul Wijnen
+/+ 1_6i c.-823_1076+5984del r.spl? p.(=) Unknown - pathogenic g.47629508_47649552del - - - MSH2_001604 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1_6i c.-823_1076+5984del r.spl p.(=) Unknown - pathogenic g.47629508_47649552del - del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern, SEQ - - ? - PubMed: van der Klift 2005 - ? - United States Jewish - 0 - - 1 Juul Wijnen
+/. 1_6i c.-823_1076+5984del r.spl p.(=) Unknown - pathogenic g.47629508_47649552del - del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern, SEQ - - ? - PubMed: van der Klift 2005 - ? - United States Jewish - 0 - - 1 Juul Wijnen
+/. 1_6i c.-823_1076+5984del r.spl p.(=) Unknown - pathogenic g.47629508_47649552del - del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern, SEQ - - ? - PubMed: van der Klift 2005 - ? - United States Jewish - 0 - - 1 Juul Wijnen
+/. 1_6i c.-823_1076+5984del r.spl p.(=) Unknown - pathogenic g.47629508_47649552del - del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern, SEQ - - ? - PubMed: van der Klift 2005 - ? - United States Jewish - 0 - - 1 Juul Wijnen
+/. 1_6i c.-823_1076+5984del r.spl p.(=) Unknown - pathogenic g.47629508_47649552del - del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern, SEQ - - ? - PubMed: van der Klift 2005 - ? - United States Jewish - 0 - - 1 Juul Wijnen
+/. 1_6i c.-823_1076+5984del r.spl p.(=) Unknown - pathogenic g.47629508_47649552del - del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern, SEQ - - ? - PubMed: van der Klift 2005 - ? - United States Jewish - 0 - - 1 Juul Wijnen
+/. 1_6i c.-823_1076+5984del r.spl p.(=) Unknown - pathogenic g.47629508_47649552del - del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern, SEQ - - ? - PubMed: van der Klift 2005 - ? - United States Jewish - 0 - - 1 Juul Wijnen
+/. 1_6i c.-823_1076+5984del r.spl p.(=) Unknown - pathogenic g.47629508_47649552del - Deletion of Exon 1-6, g.5330483_5349647del19165 (NT_034483) - MSH2_001604 - PubMed: Lynch 2004 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1_6i c.-823_1076+5984del r.spl p.(=) Unknown - pathogenic g.47629508_47649552del - Deletion of Exon 1-6, g.26445441_26465485del20045 (NT_022184) - MSH2_001604 - PubMed: Nakagawa 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1_6i c.-823_1076+5984del r.spl p.(=) Unknown - pathogenic g.47629508_47649552del - Deletion of Exon 1-6 - MSH2_001604 - PubMed: Baudhuin 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1_6i c.-823_1076+5984del r.spl p.(=) Unknown - pathogenic g.47629508_47649552del - Deletion of Exon 1-6 - MSH2_001604 - PubMed: Lynch 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1_6i c.-823_1076+5984del r.spl p.(=) Unknown - pathogenic g.47629508_47649552del - Deletion of Exon 1-6; g.26445441_26465485del20045 - MSH2_001604 - PubMed: Hampel 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1_6i c.-823_1076+5984del r.spl p.(=) Unknown - pathogenic g.47629508_47649552del - Deletion of Exon 1-6 - MSH2_001604 - PubMed: Clendenning 2008; PubMed: Hampel 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1_6i c.-823_1076+5984del r.spl p.(=) Unknown - pathogenic g.47629508_47649552del - Deletion of Exon 1-6 - MSH2_001604 - PubMed: Wagner 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
-/- 1 c.-433T>G r.(?) p.(=) Unknown InSiGHT benign g.47629898T>G - - - MSH2_001224 Insight class: 1 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.-433T>G r.(?) p.(=) Unknown - VUS g.47629898T>G - - - MSH2_001224 - PubMed: Schafmayer 2007 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.-433T>G r.(?) p.(=) Unknown - VUS g.47629898T>G - - - MSH2_001224 - - - rs1863332 Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/? 1 c.-225G>C r.(?) p.(=) Unknown - VUS g.47630106G>C - - - MSH2_001140 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.-225G>C r.(?) p.(=) Unknown - VUS g.47630106G>C - - - MSH2_001140 Functional studies indicated that activity increased by 466% PubMed: Shin 2002 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.-225G>C r.(?) p.(=) Unknown - VUS g.47630106G>C - - - MSH2_001140 Gene regulation defect PubMed: Shin 2004 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/? 1 c.-190C>T r.(?) p.(=) Unknown - VUS g.47630141C>T - - - MSH2_001054 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.-190C>T r.(?) p.(=) Unknown - VUS g.47630141C>T - - - MSH2_001054 Authors describe this as a gene regulation defect PubMed: Shin 2004 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.-190C>T r.(?) p.(=) Unknown - VUS g.47630141C>T - - - MSH2_001054 Functional studies indicated that activity decreased by 77% PubMed: Shin 2002 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.-185C>A r.(?) p.(=) Unknown - VUS g.47630146C>A - - - MSH2_001590 - - - - Unknown - - - 0 - DNA PCR - - CRC - - moderately differentiated tumor;InSiGHT LOVDv2 ID:1017196; M - Brazil - - 0 - - 1 Tatiane Pastor
?/. 1 c.-140G>T r.(?) p.(=) Unknown - VUS g.47630191G>T - - - MSH2_000112 - - - - Unknown - - - 0 - DNA ? - - cancer, breast - - 4 pat cousins with breast cancer >50; pat aunt with brain ? age - - - - - 0 - - 1 InSiGHT - John-Paul Plazzer
+/+ _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - - - MSH2_000040 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - 1-?_211+?del - MSH2_000040 Submitted by ICCon South Australia - - - Germline - - - 0 - DNA SEQ - - ? - - Submitted by ICCON South Australia - - Australia - - 0 - - 1 ICCon
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - 1-?_211+?del - MSH2_000040 Submitted by ICCon South Australia - - - Germline - - - 0 - DNA SEQ - - ? - - Submitted by ICCON South Australia - - Australia - - 0 - - 1 ICCon
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - del ex1, >19kb - MSH2_000040 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern - - ? - PubMed: van der Klift 2005 - ? - Netherlands - - 0 - - 1 Juul Wijnen
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - del ex1, >19kb - MSH2_000040 - PubMed: Wijnen 1998, PubMed: van der Klift 2005, PubMed: Wagner 2002 - - Germline - - - 0 - DNA Southern - - ? - PubMed: Wijnen , 1998, PubMed: van der Klift 2005, PubMed: Wagner,A. 2002 - ? - Netherlands - - 0 - - 1 Carli Tops
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - del ex1, >19kb - MSH2_000040 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern - - ? - PubMed: van der Klift 2005 - ? - Germany - - 0 - - 1 Juul Wijnen
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - del at least 15 kb upstream exon 1_ exon 1 - MSH2_000040 - - - - Germline - - - 0 - DNA Southern, MLPA - - ? - - - ? - Netherlands - - 0 - - 1 Carli Tops
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - del at least 15 kb upstream exon 1 and exon 2 - MSH2_000040 - - - - Germline - - - 0 - DNA MLPA - - ? - - - ? - Netherlands - - 0 - - 1 Carli Tops
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - del ex01 - MSH2_000040 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - del ex01 - MSH2_000040 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - del ex01 - MSH2_000040 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Parent #1 - pathogenic g.(?_47630206)_(47630542_47635539)del - ex01del - MSH2_000040 - - - - Germline - - - 0 - DNA SEQ - - HNPCC - - - ? - Germany - - 0 - - 1 Beate Dr. Betz
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Promoter - Exon 1 - MSH2_000040 - PubMed: Becouarn 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Parent #1 - pathogenic g.(?_47630206)_(47630542_47635539)del - - - MSH2_000040 - PubMed: Wijnen 1998 - - Germline - - - 0 - DNA SEQ - - ? - - - ? - Netherlands - - 0 - - 1 INSiGHT group
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - 1-?_211+?del (Del ex01) - MSH2_000040 Maternal Inferred José Luis Soto - - Germline - - - 0 - DNA MLPA - - cancer, endometrial - - - F - - - - 0 - - 1 INSiGHT group
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - (?_-68)_211+?del - MSH2_000040 - Mark Jenkins; John Hopper - - Germline - - - 0 - DNA SEQ - - ? - - 2 families: segregation LR 1.7 [Aus CCFR] - - - - - 0 - - 1 INSiGHT group
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - (?_-68)_211+?del - MSH2_000040 1x male 41 y synchr. CC Coecum+C.ascendens, MSI-H, IHC loss of MSH2 + MSH6, MLH1 positive, Bethesda-pos. Elke Holinski-Feder and Monika Morak - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 INSiGHT group
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Grabowski 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Wijnen 1998 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Charbonnier 2002 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? Unknown - pathogenic g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Wagner 2002 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
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