Unique 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 We encourage submission of relevant unpublished information to assist in the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.

1401 entries on 15 pages. Showing entries 1 - 100.
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Effect     

Reported     

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     
+/. 10 - c.(?_-68)_1076+?del pathogenic r.(?) p.? g.47630263_47643568del - (?_-68)_1076+?del Deletion exons 1–6 - MSH2_001644 - PubMed: Lagerstedt-Robinson 2016, PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - Kristina Lagerstedt Robinson
+/. 2 - 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, PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - Kristina Lagerstedt Robinson
+/. 7 - c.(?_-68)_1386+?del pathogenic r.(?) p.? g.47630263_47672796del - (?_-68)_1386+?del Deletion exons 1–8 - MSH2_001646 - PubMed: Lagerstedt-Robinson 2016, PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - Kristina Lagerstedt Robinson
+/. 1 - c.(?_-68)_1661+?del pathogenic r.(?) p.? g.47630263_47693947del - (?_-68)_1661+?del Deletion exons 1–11 - MSH2_001647 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - Kristina Lagerstedt Robinson
+/+, +/. 3 1_11i c.-75398_1759+1708del pathogenic r.spl p.?, p.(=) g.47554933_47699909del - Deletion of Exon 1-11; g.26446264-?_26514134+?del, 1 more item - MSH2_001624 Insight class: 5 InSiGHT, PubMed: Hampel 2005, PubMed: Hampel 2006 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/., +/+ 3 1_7i c.-47156_1277-4980del pathogenic r.spl, r.spl? p.(=) g.47583175_47667707del - Deletion of Exon 1-7, g.26399108_26483640del84533 (NT_022184) - MSH2_000856 Insight class: 5 PubMed: Nakagawa 2003, PubMed: Hampel 2005, InSiGHT - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
+/+, +/. 4 1_7i c.-35298_1276+5697del pathogenic r.spl?, r.spl p.(=) g.47595033_47662777del - Deletion of Exon 1-7 - MSH2_000938 Insight class: 5 InSiGHT, PubMed: Nilbert 2002, PubMed: Lagerstedt Robinson 2007; PubMed: Di Fiore 2004, 1 more item - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/. 1 _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 - - - - - Mamata Sivagnanam
+/. 2 _1 c.-25189_-2353del pathogenic NM_002354.2:r.-358_555::r.212_*279, 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, 1 more item PubMed: Ligtenberg 2009 - - Germline yes - - - - Johan den Dunnen
+/. 1 _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 - - - - - Mamata Sivagnanam
+/. 5 _1 c.-19488_-14580del pathogenic r.[NM_002354.2:r.-358_858::212_*279, NM_002354.2:r.-358_858::-4237_-4127ins212_*279], r.? p.? g.47610843_47615751del g.47383704_47388612del c.859-1462_*1999del, MSH2:c.373C>T + EPCAM:c.859-1462_*1999del - EPCAM_000001 3 more items PubMed: Ligtenberg 2009, Mensenkamp and Ligtenberg - - Germline yes - - - - Johan den Dunnen, INSiGHT group
+/., +/+ 6 1_6i c.-11844_1077-6021delins(155) pathogenic r.spl, r.spl? p.(=) g.47618487_47650860delins(155) - Deletion of Exon 1-6; g.26440374_26472747 (del 32373 + ins 155), Deletion of Exon 1-6, 2 more items - MSH2_001602 Insight class: 5 PubMed: Stella 2007, PubMed: Barana 2004, InSiGHT, PubMed: van der Klift 2005 - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer, Juul Wijnen
+/., +/+ 3 1_2i c.-4729_367-353del pathogenic r.? p.? g.47625602_47636880del - Deletion of Exon 1-2, Deletion of Exon 1-2, g.26441535_26452813del11279 (NT_022184) - MSH2_000862 Insight class: 5 PubMed: Pyatt 2003, PubMed: Nakagawa 2003, InSiGHT - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
+/., +/+ 3 1_3i c.-1753_645+922del pathogenic r.spl p.(=), p.? g.47628578_47638433del - Deletion of Exon 1-3; g.26444511_26454366 (del 9855), Deletion of Exon 1-3; g.2644511_26454366del9855 - MSH2_001625 Insight class: 5 PubMed: Stella 2007, InSiGHT - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
+/+, +/. 2 1_6i c.-956_1077-5607del pathogenic r.spl?, r.spl p.(=) g.47629375_47651274del - del ex1_6, 21899 bp - MSH2_001603 Insight class: 5 InSiGHT, PubMed: van der Klift 2005; PubMed: Wagner 2003 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Juul Wijnen
+/+, +/. 15 1_6i c.-823_1076+5984del pathogenic r.spl?, r.spl p.(=) g.47629508_47649552del - Deletion of Exon 1-6, g.5330483_5349647del19165 (NT_034483), Deletion of Exon 1-6, del ex1_6, 20045 bp, 2 more items - MSH2_001604 Insight class: 5 InSiGHT, PubMed: Lynch 2004, PubMed: Nakagawa 2003, PubMed: Baudhuin 2005, PubMed: Lynch 2006, 4 more items - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Juul Wijnen
-/-, ?/. 3 1 c.-433T>G InSiGHT: 1, VUS r.(?) p.(=) g.47629898T>G - - - MSH2_001224 Insight class: 1 InSiGHT, PubMed: Schafmayer 2007 - rs1863332 SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/., ?/? 3 1 c.-225G>C VUS r.(?) p.(=) g.47630106G>C - - - MSH2_001140 Functional studies indicated that activity increased by 466%, Gene regulation defect, Insight class: 3 PubMed: Shin 2002, PubMed: Shin 2004, InSiGHT - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
?/., ?/? 3 1 c.-190C>T VUS r.(?) p.(=) g.47630141C>T - - - MSH2_001054 Authors describe this as a gene regulation defect, Insight class: 3, 1 more item PubMed: Shin 2004, PubMed: Shin 2002, InSiGHT - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
?/. 1 1 c.-185C>A VUS r.(?) p.(=) g.47630146C>A - - - MSH2_001590 - - - - Unknown - - - - - Tatiane Pastor
?/. 1 1 c.-140G>T VUS r.(?) p.(=) g.47630191G>T - - - MSH2_000112 - - - - Unknown - - - - - InSiGHT - John-Paul Plazzer
+/., +/+ 41 _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - (?_-68)_211+?del, 1-?_211+?del, del ex1, >19kb, del at least 15 kb upstream exon 1_ exon 1, ex01del, 5 more items - MSH2_000040 Submitted by ICCon South Australia, Maternal Inferred, Insight class: 5, 5 more items InSiGHT, PubMed: Rossi 2017, PubMed: van der Klift 2005, PubMed: Becouarn 2005, PubMed: Wijnen 1998, 24 more items - - Germline, SUMMARY record - - - - - Mev Dominguez Valentin, ICCon, Juul Wijnen, Carli Tops, Peter Propping, Prof. Dr. med., Beate Dr. Betz, Michael Woods, INSiGHT group, InSiGHT - John-Paul Plazzer
+/. 1 _1_1i c.(?_-125)_(211+1_212-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - - - MSH2_000040 Submitted by ICCon South Australia - - - Germline - - - - - ICCon
+/. 1 _1_2i c.-125_367-519del pathogenic (dominant) r.-125_366delinsNM_002354.2:-358_555 p.Val3_Lys122delinsNP_002345.2:Pro3_Leu185 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
+/., +/+ 32 _1_2i c.(?_-125)_(366+1_367-1)del pathogenic r.0?, r.spl p.0?, p.Met1_Lys122del g.(?_47630206)_(47635695_47637232)del - del ex01-02, 1-?_366+?del, Del at least 27 kb upstream MSH2_ MSH2 ex2, genomic del ex1-2, 1_366del, 7 more items - MSH2_000041 Submitted by ICCon South Australia, del promoter - exon 2, Unknown, Exon 1 and 2 deleted, 7 more items José Luis Soto, Mark Jenkins; John Hopper, Elke Holinski-Feder and Monika Morak, Desiree du Sart, 14 more items - - Germline, SUMMARY record - - - - - Peter Propping, Prof. Dr. med., ICCon, Carli Tops, Juul Wijnen, Elke Holinski-Feder, INSiGHT group, Daniel Rueda, Michael Woods, InSiGHT - John-Paul Plazzer, Thomas Hansen
+/., +/+ 11 _1_3i c.(?_-125)_(645+1_646-1)del pathogenic r.0? p.0? g.(?_47630206)_(47637512_47639552)del - (?_-68)_645+?del, 1-?_645+?del (Del ex01-03), 1?_645+?del, Deletion of Exon 1-3 - MSH2_000863 Maternal Inferred, Occurs with an MYH mutation., Insight class: 5, 1 more item InSiGHT, PubMed: Rossi 2017, José Luis Soto, PubMed: Gille 2002, PubMed: Niessen 2006, InSiGHT, 4 more items - - Germline, SUMMARY record - - - - - Mev Dominguez Valentin, INSiGHT group, José Luis Soto, Michael Woods, InSiGHT - John-Paul Plazzer
+/., +/+ 8 _1_4i c.(?_-125)_(792+1_793-1)del pathogenic r.spl, r.0? p.Met1_Gln264del, p.0? g.(?_47630206)_(47639700_47641407)del - Exon 1 to Exon 4 1-?_792+?del p.Met1_Gln264del, Deletion of Exon 1-4, 1 more item - MSH2_000864 Insight class: 5 Desiree du Sart, PubMed: Charbonnier 2002, PubMed: Charbonnier 2005, PubMed: Di Fiore 2004, InSiGHT, 3 more items - - Germline, SUMMARY record - - - - - INSiGHT group, Michael Woods, InSiGHT - John-Paul Plazzer
+/., +/+ 4 _1_5i c.(?_-125)_(942+1_943-1)del pathogenic r.0? p.0? g.(?_47630206)_(47641558_47643434)del - genomic del ex1-5, ex01_ex05del, Deletion of Exon 1-5 - MSH2_000035 Insight class: 5 InSiGHT, PubMed: Soravia 2001 - - Germline, SUMMARY record - - - - - Juul Wijnen, Beate Dr. Betz, InSiGHT - John-Paul Plazzer, Michael Woods
+/. 37 _1_6i c.(?_-125)_(1076+1_1077-1)del pathogenic r.0? p.0? g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6, (?_-68)_1076+?del, del ex1_6, =78 kb, del ex1_6, >25 kb, del ex1_6, =15 kb, 3 more items - MSH2_000235 Authors describe the 26bp Alu core sequence as being located 1bp upstream from the breakpoint., 5 more items PubMed: Charbonnier 2005, PubMed: Kurzawski 2006, PubMed: Barnetson 2006, PubMed: Pistorius 2007, 18 more items - - Germline - - - - - Michael Woods, Mev Dominguez Valentin, INSiGHT group, Juul Wijnen, Peter Propping, Prof. Dr. med., Beate Dr. Betz
+/. 19 _1_6i c.(?_-125)_(1076+1_1077-1)del pathogenic r.0? p.0? g.(?_47630206)_(47643569_47656880)del - ex1-6del, (?_-68)_1076+?del, Exon 1 to Exon 6 1-?_1076+?del p.Met1Ilefs*29 (reported as p.Met1?), 2 more items - MSH2_000235 Submitted by ICCon South Australia, Nº affected carriers / family:1, 1 more item PubMed: van der Klift 2005, Elke Holinski-Feder and Monika Morak, Desiree du Sart, Desiree du Sart, 8 more items - - Germline - - - - - ICCon, INSiGHT group
+/. 7 _1_6i c.(?_-125)_(1076+1_1077-1)del pathogenic r.0? p.0? g.(?_47630206)_(47643569_47656880)del - deletion EPCAM exon 9 (904-?) to MSH2 exon 6 (1076+?), del ex01-06 - MSH2_000235 - PubMed: van der Klift 2005, Desiree du Sart - - Germline - - - - - INSiGHT group, Peter Propping, Prof. Dr. med.
+/. 3 _1_6i c.(?_-125)_(1076+1_1077-1)del pathogenic r.0? p.0? g.(?_47630206)_(47643569_47656880)del - Deletion of Exon 1-6 - MSH2_000235 1 more item PubMed: Overbeek 2007; PubMed: Kets 2009, PubMed: Liu 1995, PubMed: de Vos 2005 - - Germline, In vitro (cloned) - - - - - Michael Woods
+/. 15 _1_6i c.(?_-125)_(1076+1_1077-1)del pathogenic r.0? p.0? g.(?_47630206)_(47643569_47656880)del - codon 153., Deletion of Exon 1-6 - MSH2_000235 1 more item PubMed: Bougeard 2003, PubMed: Scott 2007, PubMed: Grindedal 2009, PubMed: Mangold 2007, 10 more items - - Germline - - - - - Michael Woods
+/. 1 _1_6i c.(?_-125)_(1076+1_1077-1)dup pathogenic r.0? p.0? g.(?_47630206)_(47643569_47656880)dup - - - MSH2_000004 - - - - Germline - - - - - Peter Propping, Prof. Dr. med.
?/. 1 _1_6i c.(?_-125)_(1076+1_1077-1)dup VUS r.0? p.0? g.(?_47630206)_(47643569_47656880)dup - Exon 1 to Exon 6 1-?_1076+?dup p.Leu360Trpfs*63 (?should be p.Met1?) - MSH2_000004 - Desiree du Sart - - Germline - - - - - INSiGHT group
?/? 1 _1_6i c.(?_-125)_(1076+1_1077-1)dup VUS r.0? p.0? g.(?_47630206)_(47643569_47656880)dup - - - MSH2_000004 Insight class: 3 InSiGHT - - SUMMARY record - - - - - InSiGHT - John-Paul Plazzer
?/? 1 _1_6i c.(?_-125)_(1076+1_1077-1)dup VUS r.0? p.0? g.(?_47630206)_(47643569_47656880)dup - - - MSH2_000004 - - - - Germline - - - - - InSiGHT - John-Paul Plazzer
+/. 22 _1_6i, _1_7i c.(?_-125)_(1276+1_1277-1)del pathogenic r.0? p.0? g.(?_47630206)_(47657081_47672686)del - ex 1-7 del, Deletion of Exon 1-7, Deletion of Exon 1-7, >25Kb deletion, MSH2 del ex1-7, 2 more items - MSH2_000038 Authors describe the 26bp Alu core sequence as being located 72bp downstream from the breakpoint., 1 more item PubMed: Liu 2001, OMIM:var0001, PubMed: Zhu 2005, PubMed: Charbonnier 2002, PubMed: Gille 2002, 14 more items - - Germline yes 1/2134 cases BRCA - - - Johan den Dunnen, Michael Woods, ICCon, Carli Tops, José Luis Soto
+/., +/+ 30 _1_8i c.(?_-125)_(1386+1_1387-1)del pathogenic r.0? p.0? g.(?_47630206)_(47672797_47690169)del - Deletion of Exon 1-8, Deletion of Exon 1-8, >34Kb Deletion, (?_-68)_1386+?del/Del exon 1-8, 3 more items - MSH2_000238 Authors describe the 26bp Alu core sequence as being located 31bp downstream of the breakpoint., 4 more items PubMed: Charbonnier 2002, PubMed: Taylor 2003, PubMed: Ainsworth 2004, PubMed: Bunyan 2004, InSiGHT, 19 more items - - Germline, SUMMARY record, De novo - - - - - Michael Woods, Elke Holinski-Feder, Amanda Spurdle, ICCon, InSiGHT - John-Paul Plazzer, Thomas Hansen, INSiGHT group, Ian Frayling
+/., +/+ 6 _1_10i c.(?_-125)_(1661+1_1662-1)del pathogenic r.0? p.0? g.(?_47630206)_(47693948_47698103)del - Deletion of Exon 1-10, del ex01-10 - MSH2_000042 Insight class: 5 PubMed: Wang 2002, PubMed: Wang 2003, PubMed: Mangold 2005, PubMed: Mangold 2005, InSiGHT - - Germline, SUMMARY record - - - - - Michael Woods, Peter Propping, Prof. Dr. med., InSiGHT - John-Paul Plazzer
+/., +/+ 2 _1_11i c.(?_-125)_(1759+1_1760-1)del pathogenic r.0? p.0? g.(?_47630206)_(47698202_47702163)del - Deletion of Exon 1-11 - MSH2_000859 Insight class: 5 PubMed: Di Fiore 2004, InSiGHT - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
+/. 1 _1_14i c.(?_-125)_(2458+1_2459-1)del pathogenic r.? p.0? g.(?_47630206)_(47705659_47707834)del - 1_2458del - MSH2_000046 Exon deletion (1-14) 1 more item - - Germline ? - - - - InSiGHT - John-Paul Plazzer
+/., +/+ 4 _1_15i c.(?_-125)_(2634+1_2635-1)del pathogenic r.0? p.0? g.(?_47630206)_(47708011_47709917)del - Deletion of Exon 1-15 - MSH2_000861 Insight class: 5 PubMed: Charbonnier 2005, PubMed: Parc 2003, PubMed: Di Fiore 2004, InSiGHT - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
+/., +/+ 27 _1_16_ c.(?_-125)_(*279_?)del pathogenic r.0? p.0? g.(?_47630206)_(47710367_?)del - del ex 1_16, >80kb, del 1_16, Deletion of Exon 1-16, del MSH2 ex1_16, delTACSTD1-15,-27, del MSH6, 6 more items - MSH2_000043 Insight class: 5, 1 more item PubMed: van der Klift 2005, PubMed: Wang 2003, PubMed: Grabowski 2005, PubMed: Wang 2002, InSiGHT, 13 more items - - Germline, Unknown, In vitro (cloned), SUMMARY record - - - - - Juul Wijnen, Carli Tops, Michael Woods, Peter Propping, Prof. Dr. med., Maurizio Genuardi, INSiGHT group, James Whitworth, InSiGHT - John-Paul Plazzer
-/-, -/., ?/. 21 1 c.-118T>C InSiGHT: 1, benign, VUS r.(?) p.(=), p.? g.47630213T>C - MSH2(NM_000251.2):c.-118T>C (p.?), -118 C>T., Authors describe this variant as -118C>T., 2 more items - MSH2_000892 Insight class: 1, VKGL data sharing initiative Nederland, 2 more items InSiGHT, PubMed: Chen 2008, PubMed: Christensen 2008, PubMed: Iwahashi 1998, PubMed: Lee 2005, 6 more items - - SUMMARY record, CLASSIFICATION record, Germline - - - - - InSiGHT - John-Paul Plazzer, VKGL-NL, Michael Woods, Thomas Hansen, Angela Solano & F Cardoso, INSiGHT group
?/. 1 1 c.-116G>T VUS r.(?) p.(=) g.47630215G>T - -116G>T - MSH2_000027 - - - - Germline - - - - - Thomas Hansen
?/., ?/? 3 1 c.-81dup VUS r.(?) p.(=) g.47630250dup - -80 ins A. - MSH2_001288 Functional studies indicated that activity decreased by 82%., Insight class: 3, 1 more item PubMed: Shin 2002, PubMed: Shin 2004, InSiGHT - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
+/., +?/+? 2 1 c.-78_-77del pathogenic, likely pathogenic r.(?) p.(=) g.47630253_47630254del - - - MSH2_001272 Insight class: 4, 1 more item PubMed: Yan 2007, InSiGHT - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
?/. 1 1 c.-73G>A VUS r.(?) p.(=) g.47630258G>A - -73G>A - MSH2_000250 - - - - Germline - - - - - Thomas Hansen
+/+ 1 - c.(?_-68)_(1076+1_1077-1)del pathogenic r.(?) p.? g.47630263_47643568del - - - MSH2_001644 Insight class: 5 InSiGHT - - SUMMARY record - - - - - InSiGHT - John-Paul Plazzer
+/+ 1 - c.(?_-68)_(1276+1_1277-1)del pathogenic r.(?) p.? g.47630263_47657080del - - - MSH2_001645 Insight class: 5 InSiGHT - - SUMMARY record - - - - - InSiGHT - John-Paul Plazzer
+/+ 1 - c.(?_-68)_(1386+1_1387-1)del pathogenic r.(?) p.? g.47630263_47672796del - - - MSH2_001646 Insight class: 5 InSiGHT - - SUMMARY record - - - - - InSiGHT - John-Paul Plazzer
+/+ 1 - c.(?_-68)_(1661+1_1662-1)del pathogenic r.(?) p.? g.47630263_47693947del - - - MSH2_001647 Insight class: 5 InSiGHT - - SUMMARY record - - - - - InSiGHT - John-Paul Plazzer
+/. 3 _1_1i c.(?_-1)_(211+1_212-1)del pathogenic r.0? p.0? g.(?_47630330)_(47630542_47635539)del - deletion exon 1 - MSH2_000005 ICCON data, Royal Prince Alfred/Liverpool, NSW, ICCON data, Westmead, NSW contributed by Dept. of Dr Vaccaro - - Germline - - - - - Angela Solano & F Cardoso, InSiGHT - John-Paul Plazzer
+/. 2 _1_2i c.(?_-1)_(366+1_367-1)del pathogenic r.0? p.0? g.(?_47630330)_(47635695_47637232)del - - - MSH2_000006 ICCON data, Prince of Wales Hospital, NSW, ICCON data, Royal Prince Alfred/Liverpool, NSW - - - Germline - - - - - InSiGHT - John-Paul Plazzer
+/. 1 _1_4i c.(?_-1)_(792+1_793-1)del pathogenic r.0? p.0? g.(?_47630330)_(47639700_47641407)del - - - MSH2_000008 ICCON data, Westmead, NSW - - - Germline - - - - - InSiGHT - John-Paul Plazzer
+/., ?/. 2 _1_6i c.(?_-1)_(1076+1_1077-1)del pathogenic (dominant), VUS r.0?, r.? p.0?, p.? g.(?_47596644)_(47643569_47656880)del, g.(47612350_47613710)_(47643569_47656880)del g.? deletion EPCAM exon 9 to MSH2 exon 6 - EPCAM_000005 - PubMed: Rossi 2017 - - Germline - - - - - Mamata Sivagnanam, INSiGHT group
+/. 2 1_7 c.(?_-1)_(1276+1_1277-1)del pathogenic r.0? p.0? g.(?_47630330)_(47657081_47672686)del - - - MSH2_000002 ICCON data, Prince of Wales Hospital, NSW, ICCON data, Westmead, NSW - - - Germline - - - - - InSiGHT - John-Paul Plazzer
+/. 1 1_10 c.(?_-1)_(1661+1_1662-1)del pathogenic r.0? p.0? g.(?_47630330)_(47693948_47698103)del - - - MSH2_000003 ICCON data, Royal Prince Alfred/Liverpool, NSW - - - Germline - - - - - InSiGHT - John-Paul Plazzer
+?/. 1 - (NM_002354.2):c.(184+1_185-1)::(NM_000251.2):c.(1386+1_1387-1) ACMG: 5 r.(?) p.(?) NC_000002.11(NM_002354.2):c.(184+1_185-1)::(NM_000251.2):c.(1386+1_1387-1) - - - MSH2_001887 1 more item - - - Germline ? - - - - Andreas Laner
+?/. 1 - (NM_002354.2):c.859-689::(NM_000251.2):c.-1906 ACMG: 5 r.(?) p.(?) g.47611616::47628425 - - - MSH2_001888 1 more item - - - Germline ? - - - - Andreas Laner
+/. 1 6 c. 1042C>T pathogenic r.(?) p.(Gln348*) g.47643534C>T - - - MSH2_000058 - - - - Germline - - - - - Takashi Takeda
+/. 1 _1_16_ c.0 pathogenic r.0 p.0 g.(47600710_47600946)_(47710089_?)del - deletion EPCAM exon 3 to MSH2 exon 16 (*272_?) - EPCAM_000006 - Desiree du Sart - - Germline - - - - - INSiGHT group
+/. 1 - c.= pathogenic r.0 p.0 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
+/. 1 _1 c.? pathogenic r.? p.? g.(47612350_47613710)_(47613753_47630323)del - - - EPCAM_000087 Suppresses expression of MSH2 - - - Germline - - - - - Nancy Uhrhammer
?/., ?/? 4 1 c.1A>C VUS r.(?) p.? g.47630331A>C - MSH2(NM_000251.2):c.1A>C (p.?) - MSH2_001065 VKGL data sharing initiative Nederland, Insight class: 3 PubMed: Barnetson 2006, PubMed: Barnetson 2008, InSiGHT - - CLASSIFICATION record, Germline, SUMMARY record - - - - - VKGL-NL, Michael Woods, InSiGHT - John-Paul Plazzer
?/., ?/? 3 1 c.1A>G VUS r.(?) p.? g.47630331A>G - Deletion of Exon 1-6; - MSH2_001066 Insight class: 3 PubMed: Kets 2009, InSiGHT - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
+/., ?/? 2 1 c.1A>T pathogenic, VUS r.? p.? g.47630331A>T - Authors suggest start codon at Met26. - MSH2_000030 Insight class: 3 PubMed: Farrington 1998, InSiGHT - - Germline, SUMMARY record - - - - - INSiGHT group, InSiGHT - John-Paul Plazzer
-?/., ?/., ?/?, +/. 23 1 c.4G>A likely benign, VUS, pathogenic r.(?), r.4g>a p.(Ala2Thr), p.Ala2Thr g.47630334G>A g.47403195G>A MSH2(NM_000251.2):c.4G>A (p.A2T), G>A at 4, A2T - MSH2_000276 VKGL data sharing initiative Nederland, {GR:344}, Insight class: 3 PubMed: Mangold 2005; PubMed: Mangold 2005, Myriad et al.,, PubMed: Mangold 2005, PubMed: Mangold 2005, 6 more items - - CLASSIFICATION record, Germline, Unknown, SUMMARY record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen, Peter Propping, Prof. Dr. med., INSiGHT group, Beate Dr. Betz, Rolf Sijmons, Michael Woods, Amie Blanco, InSiGHT - John-Paul Plazzer, Andreas Laner
?/?, ?/., +/. 3 1 c.4_21dup VUS, pathogenic r.(?) p.(Ala2_Glu7dup) g.47630334_47630351dup - ex2-7dup - MSH2_001221 Insight class: 3 InSiGHT, PubMed: Kruger 2003, PubMed: Kruger 2003; PubMed: Mangold 2005 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group
?/., -?/-? 2 1 c.6G>T VUS, likely benign r.(?) p.(=) g.47630336G>T - - - MSH2_001383 Insight class: 2 PubMed: Thompson 2013, InSiGHT - - Germline, SUMMARY record - - - - - Mark Jenkins, InSiGHT - John-Paul Plazzer
-/- 1 - c.7G>T benign r.(?) p.(Val3Leu) g.47630337G>T - - - MSH2_001830 Insight class: 1 - - - SUMMARY record - - - - - InSiGHT - John-Paul Plazzer
?/., +/., ?/? 5 1 c.14C>A VUS, pathogenic r.14c>a p.Pro5Gln g.47630344C>A - P5Q, A>C at 14 and Pro>His, C>A - MSH2_000277 {GR:531}, Insight class: 3 PubMed: Chao 2008, PubMed: Sun 2004, PubMed: Wang 2005, PubMed: Cai 2003, InSiGHT - - Germline, SUMMARY record - - - - - Rolf Sijmons, Michael Woods, INSiGHT group, InSiGHT - John-Paul Plazzer
+/. 1 - c.17_20del pathogenic r.(?) p.(Lys6Argfs*57) g.47630347_47630350del - Frameshift - MSH2_001648 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - Kristina Lagerstedt Robinson
+/. 1 1 c.19_20insT pathogenic r.(?) p.(Glu7Valfs*75) g.47630349_47630350insT - - - MSH2_000147 Submitted by ICCon South Australia - - - Germline - - - - - ICCon
+/., +/+ 2 1 c.20del pathogenic r.(?) p.(Glu7Glyfs*57) g.47630350del - - - MSH2_001103 Insight class: 5 PubMed: Julie 2008, InSiGHT - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
+/., +/+ 2 1 c.21dup pathogenic r.(?) p.(Thr8Aspfs*74) g.47630351dup - - - MSH2_001118 Insight class: 5 PubMed: Kim 2001, InSiGHT - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
-/., -?/., ?/., -/- 14 1 c.23C>T benign, likely benign, VUS, InSiGHT: 1 r.(?), r.23c>u p.(Thr8Met), p.Thr8Met g.47630353C>T - MSH2(NM_000251.2):c.23C>T (p.T8M), T8M - MSH2_000055 VKGL data sharing initiative Nederland, {GR:532}, Insight class: 1 PubMed: Zhang 2018, PubMed: Chao 2008, PubMed: Nomura 2000, PubMed: Yamada 2003, PubMed: Wang 2006, 2 more items - - CLASSIFICATION record, Germline, Unknown, SUMMARY record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc, Jack Ji, InSiGHT - John-Paul Plazzer, Rolf Sijmons, Michael Woods, Carli Tops, Peng Nan, VKGL-NL_Rotterdam
-?/. 1 - c.26T>C likely benign r.(?) p.(Leu9Pro) g.47630356T>C - MSH2(NM_000251,2):c.26T>C (p.Leu9Pro) - MSH2_001692 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+, +/. 2 1 c.28C>T pathogenic r.(?) p.(Gln10*) g.47630358C>T - - - MSH2_001199 Insight class: 5 InSiGHT, PubMed: Mangold 2005 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/+, +/. 2 1 c.29dup pathogenic r.(?) p.(Leu11Valfs*71) g.47630359dup - - - MSH2_001202 Insight class: 5 InSiGHT, PubMed: Mangold 2005 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/+, +/. 4 1 c.34dup pathogenic r.(?) p.(Glu12Glyfs*70) g.47630364dup - - - MSH2_001208 Insight class: 5 InSiGHT, PubMed: Colombino 2003, PubMed: Colombino 2005, 1 more item - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Maurizio Genuardi
?/., ?/? 5 1 c.38G>T VUS r.(?) p.(Ser13Ile) g.47630368G>T - S13I - MSH2_000049 {GR:436}, Insight class: 3 PubMed: Chao 2008, PubMed: Colombino 2003, PubMed: Colombino 2005, InSiGHT - - Unknown, Germline, SUMMARY record - - - - - Rolf Sijmons, Michael Woods, InSiGHT - John-Paul Plazzer
?/., +/., ?/? 7 1 c.49G>T VUS, pathogenic r.(?) p.(Val17Phe) g.47630379G>T - V17F - MSH2_000059 {GR:438}, Insight class: 3 PubMed: Chao 2008, PubMed: Kim 2004, PubMed: Kim 2001, InSiGHT - - Germline, Unknown, SUMMARY record - - - - - Rolf Sijmons, Michael Woods, InSiGHT - John-Paul Plazzer
?/?, ?/. 2 1 c.54C>G VUS r.(?) p.(=) g.47630384C>G - - - MSH2_001240 Insight class: 3 InSiGHT, PubMed: Wang 2006 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
-?/. 1 - c.55T>C likely benign r.(?) p.(Phe19Leu) g.47630385T>C - MSH2(NM_000251.2):c.55T>C (p.F19L) - MSH2_001811 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 1 c.71del pathogenic r.(?) p.(Gln24Argfs*40) g.47630401del - 71delA - MSH2_000244 1 more item PubMed: Dominguez-Valentin 2013, PubMed: Rossi 2017 - - Germline - - - - - Mev Dominguez Valentin
+/., +/+ 2 1 c.71dup pathogenic r.(?) p.(Met26Hisfs*56) g.47630401dup - 72insA causing a frameshift with a stop at codon 81. - MSH2_000847 Insight class: 5 PubMed: Becouarn 2005, InSiGHT - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
+/., +/+ 2 1 c.73_74insC pathogenic r.(?) p.(Gly25Alafs*57) g.47630403_47630404insC - 73ins - MSH2_000848 Insight class: 5 PubMed: Kim 2001, InSiGHT - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
+/. 1 1 c.79_82dup pathogenic r.(?) p.(Glu28Alafs*54) g.47630409_47630412dup - 79_82dup - MSH2_000251 - - - - De novo - - - - - Ian Frayling
+/+, +/. 2 1 c.82del pathogenic r.(?) p.(Glu28Argfs*36) g.47630412del - - - MSH2_001287 Insight class: 5 InSiGHT, PubMed: Becouarn 2005; PubMed: Bonadona 2011 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/., +/+ 4 1 c.82G>T pathogenic r.(?) p.(Glu28*) g.47630412G>T - - - MSH2_000018 Insight class: 5 PubMed: Mangold 2005, PubMed: Mangold 2005, InSiGHT - - Germline, SUMMARY record - - - - - Peter Propping, Prof. Dr. med., Michael Woods, InSiGHT - John-Paul Plazzer
?/. 1 1_3 c.89_641delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT VUS r.(?) p.? g.47630419_47637507delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT - an insertion of 36 bp Alu sequence resulting in a stop at nucleotide 648 - MSH2_001298 - PubMed: Marshall 1996 - - Somatic - - - - - Michael Woods
+/., +/+ 3 1 c.94_103del pathogenic r.(?) p.(Thr32Alafs*29) g.47630424_47630433del - - - MSH2_000050 Insight class: 5 PubMed: Mangold 2005, InSiGHT - - Germline, SUMMARY record - - - - - Peter Propping, Prof. Dr. med., Michael Woods, InSiGHT - John-Paul Plazzer
+/. 1 1 c.96dup pathogenic r.(?) p.(Thr33Hisfs*49) g.47630426dup - 96dupC - MSH2_000269 1 more item PubMed: Rossi 2017 - - Germline - - - - - Mev Dominguez Valentin
+?/., ?/., +/., ?/? 15 1 c.97A>C likely pathogenic, VUS, pathogenic r.(?) p.(Thr33Pro) g.47630427A>C - T33P, 97A>C - MSH2_000052 Authors describe this variant as displaying a slight defect in the efficiency of the MMR reaction., 2 more items PubMed: Ollila 2008, PubMed: Hegde 2005, PubMed: Hampel 2006, PubMed: Ollila 2006, PubMed: Chao 2008, 2 more items - - Germline, In vitro (cloned), Unknown, SUMMARY record, De novo - - - - - Michael Woods, Rolf Sijmons, InSiGHT - John-Paul Plazzer, Ian Frayling
?/., ?/? 7 1 c.97A>G VUS r.97a>g p.Thr33Ala g.47630427A>G - T33A - MSH2_000051 {GR:439}, Insight class: 3 PubMed: Chao 2008, PubMed: Auclair 2006, InSiGHT - - Germline, Unknown, In vitro (cloned), SUMMARY record - - - - - Rolf Sijmons, Michael Woods, InSiGHT - John-Paul Plazzer
+/., ?/. 4 1 c.101T>A pathogenic, VUS r.(?) p.(Val34Glu) g.47630431T>A - V34E - MSH2_000060 {GR:481} PubMed: Chao 2008, PubMed: Yamamoto 1999 - - Unknown, Somatic - - - - - Rolf Sijmons, Michael Woods
+/., +/+ 3 1 c.110del pathogenic r.(?) p.(Phe37Serfs*27) g.47630440del - p.L36fsX63., p.L36fsX63 - MSH2_000045 Insight class: 5 PubMed: Wolf 2005, PubMed: Wolf 2006, InSiGHT - - Germline, SUMMARY record - - - - - INSiGHT group, Michael Woods, InSiGHT - John-Paul Plazzer
?/. 2 1 c.112G>T VUS r.(?) p.(Asp38Tyr) g.47630442G>T - 112G>T - MSH2_000605, MSH2_001822 1 more item PubMed: Rossi 2017 - - Germline - - - - - Mev Dominguez Valentin, Mev Dominguez-Valentin
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