All transcript variants in gene MSH2


Criteria used for classification are available from 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 We encourage submission of relevant unpublished information to assist in the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.

7709 entries on 78 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
+/. - c.(?_-68)_1076+?del pathogenic r.(?) p.? g.47630263_47643568del - (?_-68)_1076+?del Deletion exons 1–6 - MSH2_001644 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-68)_1076+?del pathogenic r.(?) p.? g.47630263_47643568del - (?_-68)_1076+?del Deletion exons 1–6 - MSH2_001644 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-68)_1076+?del pathogenic r.(?) p.? g.47630263_47643568del - (?_-68)_1076+?del Deletion exons 1–6 - MSH2_001644 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-68)_1076+?del pathogenic r.(?) p.? g.47630263_47643568del - (?_-68)_1076+?del Deletion exons 1–6 - MSH2_001644 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-68)_1076+?del pathogenic r.(?) p.? g.47630263_47643568del - (?_-68)_1076+?del Deletion exons 1–6 - MSH2_001644 - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-68)_1076+?del pathogenic r.(?) p.? g.47630263_47643568del - (?_-68)_1076+?del Deletion exons 1–6 - MSH2_001644 - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-68)_1076+?del pathogenic r.(?) p.? g.47630263_47643568del - (?_-68)_1076+?del Deletion exons 1–6 - MSH2_001644 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-68)_1076+?del pathogenic r.(?) p.? g.47630263_47643568del - (?_-68)_1076+?del Deletion exons 1–6 - MSH2_001644 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-68)_1076+?del pathogenic r.(?) p.? g.47630263_47643568del - (?_-68)_1076+?del Deletion exons 1–6 - MSH2_001644 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-68)_1076+?del pathogenic r.(?) p.? g.47630263_47643568del - (?_-68)_1076+?del Deletion exons 1–6 - MSH2_001644 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-68)_1276+?del pathogenic r.(?) p.? g.47630263_47657080del - (?_-68)_1276+?del Deletion exons 1–7 - MSH2_001645 - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-68)_1276+?del pathogenic r.(?) p.? g.47630263_47657080del - (?_-68)_1276+?del Deletion exons 1–7 - MSH2_001645 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-68)_1386+?del pathogenic r.(?) p.? g.47630263_47672796del - (?_-68)_1386+?del Deletion exons 1–8 - MSH2_001646 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-68)_1386+?del pathogenic r.(?) p.? g.47630263_47672796del - (?_-68)_1386+?del Deletion exons 1–8 - MSH2_001646 - PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-68)_1386+?del pathogenic r.(?) p.? g.47630263_47672796del - (?_-68)_1386+?del Deletion exons 1–8 - MSH2_001646 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-68)_1386+?del pathogenic r.(?) p.? g.47630263_47672796del - (?_-68)_1386+?del Deletion exons 1–8 - MSH2_001646 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-68)_1386+?del pathogenic r.(?) p.? g.47630263_47672796del - (?_-68)_1386+?del Deletion exons 1–8 - MSH2_001646 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-68)_1386+?del pathogenic r.(?) p.? g.47630263_47672796del - (?_-68)_1386+?del Deletion exons 1–8 - MSH2_001646 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-68)_1386+?del pathogenic r.(?) p.? g.47630263_47672796del - (?_-68)_1386+?del Deletion exons 1–8 - MSH2_001646 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.(?_-68)_1661+?del pathogenic r.(?) p.? g.47630263_47693947del - (?_-68)_1661+?del Deletion exons 1–11 - MSH2_001647 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/+ 1_11i c.-75398_1759+1708del pathogenic r.spl p.? g.47554933_47699909del - - - MSH2_001624 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1_11i c.-75398_1759+1708del pathogenic r.spl p.(=) g.47554933_47699909del - Deletion of Exon 1-11; g.26446264-?_26514134+?del - MSH2_001624 - PubMed: Hampel 2005 - - Germline - - - 0 - Michael Woods
+/. 1_11i c.-75398_1759+1708del pathogenic r.spl p.(=) g.47554933_47699909del - Deletion of Exon 1-11; g.26370866_26515842del144977 - MSH2_001624 - PubMed: Hampel 2006 - - Germline - - - 0 - Michael Woods
+/+ 1_7i c.-47156_1277-4980del pathogenic r.spl? p.(=) g.47583175_47667707del - - - MSH2_000856 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1_7i c.-47156_1277-4980del pathogenic r.spl p.(=) g.47583175_47667707del - Deletion of Exon 1-7, g.26399108_26483640del84533 (NT_022184) - MSH2_000856 - PubMed: Nakagawa 2003 - - Germline - - - 0 - Michael Woods
+/. 1_7i c.-47156_1277-4980del pathogenic r.spl p.(=) g.47583175_47667707del - Deletion of Exon 1-7, g.26399108_26483640del84533 (NT_022184) - MSH2_000856 - PubMed: Hampel 2005 - - Germline - - - 0 - Michael Woods
+/+ 1_7i c.-35298_1276+5697del pathogenic r.spl? p.(=) g.47595033_47662777del - - - MSH2_000938 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1_7i c.-35298_1276+5697del pathogenic r.spl p.(=) g.47595033_47662777del - Deletion of Exon 1-7 - MSH2_000938 - PubMed: Staaf 2008; PubMed: Charbonnier 2005 - - Germline - - - 0 - Michael Woods
+/. 1_7i c.-35298_1276+5697del pathogenic r.spl p.(=) g.47595033_47662777del - Deletion of Exon 1-7 - MSH2_000938 - PubMed: Nilbert 2002 - - Germline - - - 0 - Michael Woods
+/. 1_7i c.-35298_1276+5697del pathogenic r.spl p.(=) g.47595033_47662777del - Deletion of Exon 1-7 - MSH2_000938 - PubMed: Lagerstedt Robinson 2007; PubMed: Di Fiore 2004 - - Germline - - - 0 - Michael Woods
+/. _1_4i c.-33687_-16578del pathogenic (dominant) r.0? p.0? g.(?_47596644)_(47639700_47641407)del g.(?_47369505)_(47412561_47414268)del - - EPCAM_000064 56290 bp deletion PubMed: Villacis 2017 - - Germline - - - 0 - Mamata Sivagnanam
+/. _1 c.-25189_-2353del pathogenic NM_002354.2:r.-358_555::r.212_*279 p.? 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 - Johan den Dunnen
+/. _1 c.-25189_-2353del pathogenic r.-125_211delinsNM_002354.2:-358_555] p.? 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 - Johan den Dunnen
+/. _1_3i c.-19886_646-254del pathogenic (dominant) r.0? p.0? g.47610445_47639299del g.47383306_47412160del - - EPCAM_000062 28854 bp deletion +_AluY to +_AluSx PubMed: Perez-Cabornero 2011 - - Germline - - - 0 - Mamata Sivagnanam
+/. _1 c.-19488_-14580del pathogenic r.[NM_002354.2:r.-358_858::212_*279, NM_002354.2:r.-358_858::-4237_-4127ins212_*279] p.? 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 - Johan den Dunnen
+/. _1 c.-19488_-14580del pathogenic r.? p.? 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 - Johan den Dunnen
+/. _1 c.-19488_-14580del pathogenic r.? p.? 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 - Johan den Dunnen
+/. _1 c.-19488_-14580del pathogenic r.? p.? 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 - Johan den Dunnen
+/. _1 c.-19488_-14580del pathogenic r.? p.? g.47610843_47615751del g.47383704_47388612del MSH2:c.373C>T + EPCAM:c.859-1462_*1999del - EPCAM_000001 - Mensenkamp and Ligtenberg - - Germline - - - 0 - INSiGHT group
+/+ 1_6i c.-11844_1077-6021delins(155) pathogenic r.spl? p.(=) g.47618487_47650860delins(155) - - - MSH2_001602 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1_6i c.-11844_1077-6021delins(155) pathogenic r.spl p.(=) g.47618487_47650860delins(155) - del ex1_6, 32372 bp - MSH2_001602 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
+/. 1_6i c.-11844_1077-6021delins(155) pathogenic r.spl p.(=) g.47618487_47650860delins(155) - del ex1_6, 32372 bp - MSH2_001602 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
+/. 1_6i c.-11844_1077-6021delins(155) pathogenic r.spl p.(=) g.47618487_47650860delins(155) - Deletion of Exon 1-6; g.26440374_26472747 (del 32373 + ins 155) - MSH2_001602 - PubMed: Stella 2007 - - Germline - - - 0 - Michael Woods
+/. 1_6i c.-11844_1077-6021delins(155) pathogenic r.spl p.(=) g.47618487_47650860delins(155) - Deletion of Exon 1-6; g.26440374_26472747del32373+ins155 - MSH2_001602 - PubMed: Stella 2007 - - Germline - - - 0 - Michael Woods
+/. 1_6i c.-11844_1077-6021delins(155) pathogenic r.spl p.(=) g.47618487_47650860delins(155) - Deletion of Exon 1-6 - MSH2_001602 - PubMed: Barana 2004 - - Germline - - - 0 - Michael Woods
+/+ 1_2i c.-4729_367-353del pathogenic r.? p.? g.47625602_47636880del - - - MSH2_000862 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1_2i c.-4729_367-353del pathogenic r.? p.? g.47625602_47636880del - Deletion of Exon 1-2 - MSH2_000862 - PubMed: Pyatt 2003 - - Germline - - - 0 - Michael Woods
+/. 1_2i c.-4729_367-353del pathogenic r.? p.? g.47625602_47636880del - Deletion of Exon 1-2, g.26441535_26452813del11279 (NT_022184) - MSH2_000862 - PubMed: Nakagawa 2003 - - Germline - - - 0 - Michael Woods
+/+ 1_3i c.-1753_645+922del pathogenic r.spl p.? g.47628578_47638433del - - - MSH2_001625 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1_3i c.-1753_645+922del pathogenic r.spl p.(=) g.47628578_47638433del - Deletion of Exon 1-3; g.26444511_26454366 (del 9855) - MSH2_001625 - PubMed: Stella 2007 - - Germline - - - 0 - Michael Woods
+/. 1_3i c.-1753_645+922del pathogenic r.spl p.(=) g.47628578_47638433del - Deletion of Exon 1-3; g.2644511_26454366del9855 - MSH2_001625 - PubMed: Stella 2007 - - Germline - - - 0 - Michael Woods
+/+ 1_6i c.-956_1077-5607del pathogenic r.spl? p.(=) g.47629375_47651274del - - - MSH2_001603 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1_6i c.-956_1077-5607del pathogenic r.spl p.(=) g.47629375_47651274del - del ex1_6, 21899 bp - MSH2_001603 - PubMed: van der Klift 2005; PubMed: Wagner 2003 - - Germline - - - 0 - Juul Wijnen
+/+ 1_6i c.-823_1076+5984del pathogenic r.spl? p.(=) g.47629508_47649552del - - - MSH2_001604 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) g.47629508_47649552del - del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) g.47629508_47649552del - del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) g.47629508_47649552del - del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) g.47629508_47649552del - del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) g.47629508_47649552del - del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) g.47629508_47649552del - del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) g.47629508_47649552del - del ex1_6, 20045 bp - MSH2_001604 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) g.47629508_47649552del - Deletion of Exon 1-6, g.5330483_5349647del19165 (NT_034483) - MSH2_001604 - PubMed: Lynch 2004 - - Germline - - - 0 - Michael Woods
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) g.47629508_47649552del - Deletion of Exon 1-6, g.26445441_26465485del20045 (NT_022184) - MSH2_001604 - PubMed: Nakagawa 2003 - - Germline - - - 0 - Michael Woods
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) g.47629508_47649552del - Deletion of Exon 1-6 - MSH2_001604 - PubMed: Baudhuin 2005 - - Germline - - - 0 - Michael Woods
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) g.47629508_47649552del - Deletion of Exon 1-6 - MSH2_001604 - PubMed: Lynch 2006 - - Germline - - - 0 - Michael Woods
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) g.47629508_47649552del - Deletion of Exon 1-6; g.26445441_26465485del20045 - MSH2_001604 - PubMed: Hampel 2006 - - Germline - - - 0 - Michael Woods
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) g.47629508_47649552del - Deletion of Exon 1-6 - MSH2_001604 - PubMed: Clendenning 2008; PubMed: Hampel 2008 - - Germline - - - 0 - Michael Woods
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=) g.47629508_47649552del - Deletion of Exon 1-6 - MSH2_001604 - PubMed: Wagner 2003 - - Germline - - - 0 - Michael Woods
-/- 1 c.-433T>G InSiGHT: 1 r.(?) p.(=) g.47629898T>G - - - MSH2_001224 Insight class: 1 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.-433T>G VUS r.(?) p.(=) g.47629898T>G - - - MSH2_001224 - PubMed: Schafmayer 2007 - - Germline - - - 0 - Michael Woods
?/. 1 c.-433T>G VUS r.(?) p.(=) g.47629898T>G - - - MSH2_001224 - - - rs1863332 Germline - - - 0 - Michael Woods
?/? 1 c.-225G>C VUS r.(?) p.(=) g.47630106G>C - - - MSH2_001140 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.-225G>C VUS r.(?) p.(=) g.47630106G>C - - - MSH2_001140 Functional studies indicated that activity increased by 466% PubMed: Shin 2002 - - Germline - - - 0 - Michael Woods
?/. 1 c.-225G>C VUS r.(?) p.(=) g.47630106G>C - - - MSH2_001140 Gene regulation defect PubMed: Shin 2004 - - Germline - - - 0 - Michael Woods
?/? 1 c.-190C>T VUS r.(?) p.(=) g.47630141C>T - - - MSH2_001054 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.-190C>T VUS r.(?) p.(=) g.47630141C>T - - - MSH2_001054 Authors describe this as a gene regulation defect PubMed: Shin 2004 - - Germline - - - 0 - Michael Woods
?/. 1 c.-190C>T VUS r.(?) p.(=) g.47630141C>T - - - MSH2_001054 Functional studies indicated that activity decreased by 77% PubMed: Shin 2002 - - Germline - - - 0 - Michael Woods
?/. 1 c.-185C>A VUS r.(?) p.(=) g.47630146C>A - - - MSH2_001590 - - - - Unknown - - - 0 - Tatiane Pastor
?/. 1 c.-140G>T VUS r.(?) p.(=) g.47630191G>T - - - MSH2_000112 - - - - Unknown - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - - - MSH2_000040 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - 1-?_211+?del - MSH2_000040 Submitted by ICCon South Australia - - - Germline - - - 0 - ICCon
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - 1-?_211+?del - MSH2_000040 Submitted by ICCon South Australia - - - Germline - - - 0 - ICCon
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - del ex1, >19kb - MSH2_000040 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - del ex1, >19kb - MSH2_000040 - PubMed: Wijnen 1998, PubMed: van der Klift 2005, PubMed: Wagner 2002 - - Germline - - - 0 - Carli Tops
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - del ex1, >19kb - MSH2_000040 - PubMed: van der Klift 2005 - - Germline - - - 0 - Juul Wijnen
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - del at least 15 kb upstream exon 1_ exon 1 - MSH2_000040 - - - - Germline - - - 0 - Carli Tops
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - del at least 15 kb upstream exon 1 and exon 2 - MSH2_000040 - - - - Germline - - - 0 - Carli Tops
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - del ex01 - MSH2_000040 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - del ex01 - MSH2_000040 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - del ex01 - MSH2_000040 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - ex01del - MSH2_000040 - - - - Germline - - - 0 - Beate Dr. Betz
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - Deletion of Promoter - Exon 1 - MSH2_000040 - PubMed: Becouarn 2005 - - Germline - - - 0 - Michael Woods
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - - - MSH2_000040 - PubMed: Wijnen 1998 - - Germline - - - 0 - INSiGHT group
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - 1-?_211+?del (Del ex01) - MSH2_000040 Maternal Inferred José Luis Soto - - Germline - - - 0 - INSiGHT group
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - (?_-68)_211+?del - MSH2_000040 - Mark Jenkins; John Hopper - - Germline - - - 0 - INSiGHT group
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? 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 - INSiGHT group
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Grabowski 2005 - - Germline - - - 0 - Michael Woods
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Wijnen 1998 - - Germline - - - 0 - Michael Woods
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Charbonnier 2002 - - Germline - - - 0 - Michael Woods
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - Deletion of Exon 1 - MSH2_000040 - PubMed: Wagner 2002 - - Germline - - - 0 - Michael Woods
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