Unique variants in gene MSH2

Information The variants shown are described using the NM_000251.2 transcript reference sequence.

1386 entries on 14 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

InSiGHT Class     

Splicing/transcript expression     

DNA change (genomic) (hg19)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Owner     
?/? 1 7 c.1275A>G - r.(=) p.(=) Class 3 - g.47657079A>G - Haraldsdottir et al. Accepted into Nature Communications MSH2_000328 0.26 Carrier frequency in Iceland (%): 0.26; Odds ratio for CRC (95%CI): 0.62 (0.26-1.45) Germline (inherited) - Sigurdis Haraldsdottir
?/? 1 8 c.1284C>G - r.(?) p.(His428Gln) - - g.47672694C>G - Haraldsdottir et al. Accepted into Nature Communications MSH2_000044 0.07 Carrier frequency in Iceland (%): 0.07; Odds ratio for CRC (95%CI): 1.85 (0.65-5.25) Germline (inherited) - Sigurdis Haraldsdottir
?/? 1 13 c.2164G>A - r.(?) p.(Val722Ile) - - g.47703664G>A - Haraldsdottir et al. Accepted into Nature Communications MSH2_001114 0.74 Carrier frequency in Iceland (%): 0.74; Odds ratio for CRC (95%CI): 0.79 (0.48-1.3) Germline (inherited) - Sigurdis Haraldsdottir
?/? 1 13i c.2210+7G>T - r.spl p.(=) - - g.47703717G>T - Haraldsdottir et al. Accepted into Nature Communications MSH2_000175 1.94 Carrier frequency in Iceland (%): 1.94; Odds ratio for CRC (95%CI): 0.68 (0.50-0.93) Germline (inherited) - Sigurdis Haraldsdottir
?/? 1 14 c.2445T>A - r.(?) p.(Tyr815*) - - g.47705645T>A - Haraldsdottir et al. Accepted into Nature Communications MSH2_000182 - Found in 1 family Germline (inherited) - Sigurdis Haraldsdottir
?/+ 5 6i_16_ c.(1076+1_1077-1)_(*279_?)del Deletion of Exon 7-16, del Ex7_16, =153 kb r.spl p.? Class 5 - g.(47643569_47656880)_(47710367_?)del - Oh et al., 1999, Baudhuin et al., 2005, Martinez-Bouzas et al., 2007, Kurzawski et al., 2006, 1 more item MSH2_000306 - - In vitro (cloned), Germline (inherited) - Michael Woods, Carli Tops
?/+ 5 7i_16_ c.(1276+1_1277-1)_(*279_?)del Deletion of Exon 8-16, Deletion of Exon 8-16, =47 kb r.spl p.? Class 5 - g.(47657081_47672686)_(47710367_?)del - Pistorius et al., 2007, Zhang et al., 2006, Bujalkova et al., 2008, van der Klift et al., 2005 MSH2_000372 - - Germline (inherited) - Michael Woods, Carli Tops
?/+ 3 7i_16_ c.(1276+1_1277-1)_(*279_?)inv Inversion of Exon 8-16, 1 more item r.spl p.? Class 5 - g.(47657081_47672686)_(47710367_?)inv - Wagner et al., 2003, Wagner et al., 2002, van der Klift et al., 2005 MSH2_000000 - - Germline (inherited) - Michael Woods, Juul Wijnen
?/+ 8 8i_16_ c.(1386+1_1387-1)_(*279_?)del Exon 9 to Exon 16 c.1387-?_2805+?del p.Val463_*935del, Deletion of Exon 9-16, 1 more item r.spl p.? Class 5 - g.(47672797_47690169)_(47710367_?)del - {microatt:1003105, Desiree du Sart}, Akrami et al., 2005, Castellvi-Bel et al., 2005, 5 more items MSH2_000948 - - Germline (inherited) - InSiGHT group, Michael Woods
?/+ 3 10i_16_ c.(1661+1_1662-1)_(*279_?)del c.1662-?_2805+?del (Del ex11-16 (18 Kb)), Deletion of Exon 11-16 r.spl p.Lys555_*935del, p.? Class 5 - g.(47693948_47698103)_(47710367_?)del - {microatt:1000355, José Luis Soto}, Sanchez de Abajo et al., 2006, Martinez-Bouzas et al., 2007 MSH2_001001 - Unknown Germline (inherited) - InSiGHT group, Michael Woods
?/? 1 10i_16_ c.(1661+1_1662-1)_(*279_?)dup Duplication of Exon 11-16 r.spl p.? Class 3 - g.(47693948_47698103)_(47710367_?)dup - Castellvi-Bel et al., 2005 MSH2_001002 - - Germline (inherited) - Michael Woods
?/+ 2 11i_16_ c.(1759+1_1760-1)_(*279_?)del Deletion of Exon 12-16 r.spl p.? Class 5 - g.(47698202_47702163)_(47710367_?)del - Ainsworth et al., 2004, Niessen et al., 2006 MSH2_001034 - - Germline (inherited) - Michael Woods
+/+, ?/+ 5 14i_16_ c.(2458+1_2459-1)_(*279_?)del del ex15-16, Deletion of Exon 15-16, c.2459-?_(*272_?)del r.spl p.? Class 5 - g.(47705659_47707834)_(47710367_?)del - Mangold et al., 2004, Mangold et al., 2005, Grabowski et al., 2005, 1 more item MSH2_000681 - 1 more item Germline (inherited) - Prof. Dr. med. Peter Propping, Michael Woods, InSiGHT group
?/+ 6 15i_16_ c.(2634+1_2635-1)_(*279_?)del c.2635-?_2805+?del, Exon 16 c.2635-?_2805+?del p.Gln879_*935del, Deletion of Exon 16, =3.5 kb, 1 more item r.spl p.? Class 5 - g.(47708011_47709917)_(47710367_?)del - {microatt:1000181, Nicola Poplawski}, {microatt:1002993, Desiree du Sart}, van der Klift et al., 2005, 3 more items MSH2_000195 - - Germline (inherited) - InSiGHT group, Juul Wijnen, Michael Woods
?/+ 3 3i_16_ c.(645+1_646-1)_(*279_?)del Deletion of Exon 4-16 r.spl p.? Class 5 - g.(47637512_47639552)_(47710367_?)del - Bunyan et al., 2004, Woods et al., 2005, Stuckless et al., 2007 MSH2_001255 - - Germline (inherited) - Michael Woods
?/+, +/+ 26 _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16, deletion EPCAM exon 3 (c.185-?) to MSH2 exon 16 (*272_?), Deletion exons 1-16, 7 more items r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - Mangold et al., 2005, van der Klift et al., 2005, Pastrello et al., 2006, Mangold et al., 2005, 13 more items MSH2_000043 - 1x male 29 y CC asc. T3 N1, MSI-H, IHC loss of MSH2 + MSH6, MLH1 positive, Bethesda-pos. Germline (inherited), Unknown, In vitro (cloned) - Michael Woods, MAURIZIO GENUARDI, InSiGHT group, James Whitworth, Juul Wijnen, Carli Tops, Prof. Dr. med. Peter Propping
?/+, +/+ 80 _1_6i c.(?_-125)_(1076+1_1077-1)del del ex1_6, >25 kb, del ex01-06, ex01_ex06del, ex1-6del, c.(?_-68)_1076+?del, MSH2:c.1-?_1076+?del, 8 more items r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - van der Klift et al., 2005, {microatt:1002736, Elke Holinski-Feder and Monika Morak}, Liu et al., 1995, 47 more items MSH2_000235 - Nº affected carriers / family:1, 9 more items Germline (inherited), In vitro (cloned) - Juul Wijnen, Prof. Dr. med. Peter Propping, InSiGHT group, Beate Dr. Betz, MEV DOMINGUEZ VALENTIN, Michael Woods
+/?, ?/? 2 _1_6i c.(?_-125)_(1076+1_1077-1)dup Exon 1 to Exon 6 c.1-?_1076+?dup p.Leu360Trpfs*63 (?should be p.Met1?) r.0? p.0? Class 3 - g.(?_47630206)_(47643569_47656880)dup - {microatt:1003096, Desiree du Sart} MSH2_000004 - - Germline (inherited) - Prof. Dr. med. Peter Propping, InSiGHT group
?/+, +/+ 18 _1_6i, _1_7i c.(?_-125)_(1276+1_1277-1)del del ex1_7, =54 kb, c.(?_-68)_1267+?del, Deletion of Exon 1-7, Deletion of Exon 1-7, >25Kb deletion r.0? p.0? Class 5 - g.(?_47630206)_(47657081_47672686)del - van der Klift et al., 2005, {microatt:1003498, Carli Tops}, Zhu et al., 2005, Charbonnier et al., 2002, 13 more items MSH2_000038 - Authors describe the 26bp Alu core sequence as being located 72bp downstream from the breakpoint. Germline (inherited) - Carli Tops, José Luis Soto, Michael Woods
?/+, +/+, +?/+ 26 _1_8i c.(?_-125)_(1386+1_1387-1)del c.(?_-68)_1386+?del, Exon 1 to Exon 8 c.1-?_1386+?del p.Met1_Gln462del, MSH2:c.1-?_1386+?del, 2 more items r.0? p.0? Class 5 - g.(?_47630206)_(47672797_47690169)del - {microatt:1000435, Mark Jenkins; John Hopper}, {microatt:1000436, Noralane Lindor and Steve Thibodeau}, 21 more items MSH2_000238 - Authors describe the 26bp Alu core sequence as being located 31bp downstream of the breakpoint., 2 more items Germline (inherited) - InSiGHT group, Michael Woods, Elke Holinski-Feder, Amanda Spurdle
+/+, ?/+ 5 _1_10i c.(?_-125)_(1661+1_1662-1)del del ex01-10, Deletion of Exon 1-10 r.0? p.0? Class 5 - g.(?_47630206)_(47693948_47698103)del - Wang et al., 2002, Wang et al., 2003, Mangold et al., 2005, Mangold et al., 2005 MSH2_000042 - - Germline (inherited) - Prof. Dr. med. Peter Propping, Michael Woods
?/+ 1 _1_11i c.(?_-125)_(1759+1_1760-1)del Deletion of Exon 1-11 r.0? p.0? Class 5 - g.(?_47630206)_(47698202_47702163)del - Di Fiore et al., 2004 MSH2_000859 - - Germline (inherited) - Michael Woods
?/+, +/+ 38 _1_1i c.(?_-125)_(211+1_211-1)del del ex1, >19kb, del at least 15 kb upstream exon 1_ exon 1, del ex01, ex01del, c.(?_-68)_211+?del, 4 more items r.0? p.0? Class 5 - g.(?_47630206)_(47630542_47635539)del - van der Klift et al., 2005, Wijnen et al., 1998, van der Klift et al., 2005, Wagner et al., 2002, 25 more items MSH2_000040 - Maternal Inferred, Authors describe the 26bp Alu core sequence as being located at the breakpoint., 4 more items Germline (inherited) - Juul Wijnen, Carli Tops, Prof. Dr. med. Peter Propping, Beate Dr. Betz, Michael Woods, InSiGHT group, MEV DOMINGUEZ VALENTIN
?/+ 3 _1_15i c.(?_-125)_(2634+1_2635-1)del Deletion of Exon 1-15 r.0? p.0? Class 5 - g.(?_47630206)_(47708011_47709917)del - Charbonnier et al., 2005, Parc et al., 2003, Di Fiore et al., 2004 MSH2_000861 - - Germline (inherited) - Michael Woods
?/+, +/+, +?/+ 28 _1_2i c.(?_-125)_(366+1_367-1)del Del at least 27 kb upstream MSH2_ MSH2 ex2, genomic del ex1-2, del ex01-02, c.(?_-68)_366+?del, 6 more items r.0?, r.spl p.0?, p.Met1_Lys122del Class 5 - g.(?_47630206)_(47635695_47637232)del - {microatt:1000350, José Luis Soto}, {microatt:1000489, Mark Jenkins; John Hopper}, Wang et al., 2003, 14 more items MSH2_000041 - del promoter - exon 2, Unknown, Exon 1 and 2 deleted, Nº affected carriers / family:2, 5 more items Germline (inherited) - Carli Tops, Juul Wijnen, Prof. Dr. med. Peter Propping, Elke Holinski-Feder, InSiGHT group, Daniel Rueda, Michael Woods
+/+, ?/+ 10 _1_3i c.(?_-125)_(645+1_646-1)del c.1-?_645+?del (Del ex01-03), c.1?_645+?del, c.(?_-68)_645+?del, Deletion of Exon 1-3 r.0? p.0? Class 5 - g.(?_47630206)_(47637512_47639552)del - {microatt:1000351, José Luis Soto}, InSiGHT, Rossi et al. 2017, Gille et al., 2002, 5 more items MSH2_000863 - Maternal Inferred, Occurs with an MYH mutation., 1 more item Germline (inherited) - InSiGHT group, José Luis Soto, MEV DOMINGUEZ VALENTIN, Michael Woods
?/+ 7 _1_4i c.(?_-125)_(792+1_793-1)del MSH2:c.(?_-68)_792+?del breakpoint not tested, Exon 1 to Exon 4 c.1-?_792+?del p.Met1_Gln264del, 1 more item r.0?, r.spl p.0?, p.Met1_Gln264del Class 5 - g.(?_47630206)_(47639700_47641407)del - {microatt:1003582, Alessandra Viel}, {microatt:1002979, Desiree du Sart}, Charbonnier et al., 2002, 4 more items MSH2_000864 - - Germline (inherited) - InSiGHT group, Michael Woods
?/+, +/+ 3 _1_5i c.(?_-125)_(942+1_943-1)del genomic del ex1-5, ex01_ex05del, Deletion of Exon 1-5 r.0? p.0? Class 5 - g.(?_47630206)_(47641558_47643434)del - Soravia et al., 2001 MSH2_000035 - - Germline (inherited) - Juul Wijnen, Beate Dr. Betz, Michael Woods
+/+ 10 - c.(?_-68)_1076+?del c.(?_-68)_1076+?del Deletion exons 1–6 r.(?) p.? Class 5 - g.47630263_47643568del - Lagerstedt-Robinson et al. 2016, Lagerstedt Robinson et al. 2007, Lagerstedt-Robinson et al. 2016 MSH2_001644 - - Germline (inherited) - Kristina Lagerstedt Robinson
+/+ 2 - c.(?_-68)_1276+?del c.(?_-68)_1276+?del Deletion exons 1–7 r.(?) p.? Class 5 - g.47630263_47657080del - Lagerstedt Robinson et al. 2007, Lagerstedt-Robinson et al. 2016, Lagerstedt-Robinson et al. 2016 MSH2_001645 - - Germline (inherited) - Kristina Lagerstedt Robinson
+/+ 7 - c.(?_-68)_1386+?del c.(?_-68)_1386+?del Deletion exons 1–8 r.(?) p.? Class 5 - g.47630263_47672796del - Lagerstedt-Robinson et al. 2016, Lagerstedt Robinson et al. 2007, Lagerstedt-Robinson et al. 2016 MSH2_001646 - - Germline (inherited) - Kristina Lagerstedt Robinson
+/+ 1 - c.(?_-68)_1661+?del c.(?_-68)_1661+?del Deletion exons 1–11 r.(?) p.? Class 5 - g.47630263_47693947del - Lagerstedt-Robinson et al. 2016 MSH2_001647 - - Germline (inherited) - Kristina Lagerstedt Robinson
?/- 1 16 c.*129T>C - r.(=) p.(=) Class 1 - g.47710217T>C - Thompson et al., 2013 MSH2_001391 - - Germline (inherited) - Mark Jenkins
?/-? 3 16 c.*221G>T 1 more item r.(=) p.(=) Class 2 - g.47710309G>T - Thompson et al., 2013, {microatt:1003400, Mark Jenkins} MSH2_001392 - - Germline (inherited) - Mark Jenkins, InSiGHT group
?/-? 2 16 c.*226A>G MSH2:c.*226A>G; MSH2:c.863del p.(Gln288Argfs*4) (in cis) r.(=) p.(=) Class 2 - g.47710314A>G - Thompson et al., 2013, {microatt:1003401, Mark Jenkins} MSH2_001393 - - Germline (inherited) - Mark Jenkins, InSiGHT group
?/- 2 16 c.*2692A>C - r.(=) p.(=) Class 1 - g.47712780A>C - Schafmayer et al., 2007, {dbSNP6544991} MSH2_000850 - - Germline (inherited) - Michael Woods
?/. 1 16 c.*32G>C c.*32G>C r.(=) p.(=) - - g.47710120G>C - Rossi et al. 2017 MSH2_000010 - 1 more item Germline (inherited) - MEV DOMINGUEZ VALENTIN
?/- 2 16 c.*4331G>A - r.(=) p.(=) Class 1 - g.47714419G>A - Schafmayer et al., 2007, {dbSNP6720549} MSH2_000851 - - Germline (inherited) - Michael Woods
?/? 1 16 c.*95C>T - r.(=) p.(=) Class 3 - g.47710183C>T - Adebamowo et al., 2000 MSH2_000852 - - Germline (inherited) - Michael Woods
+/+ 1 7i_8i c.1277-1180_1386+2226delinsCATTCTCTTTGAAAA Deletion of exon 8, c.1277–1180_1386+2226del3516insCATTCTCTTTGAAAA r.spl p.? Class 5 - g.47671507_47675022delinsCATTCTCTTTGAAAA - Borelli et al.,2013 MSH2_000039 - 1 more item Germline (inherited) - Iolanda Borelli
+/. 1 - c.1759+1 G>T disruptive variant r.(?) p.? - - g.47698202G>T - 1 more item MSH2_001674 - - Germline (inherited) - Stephanie Baert-Desurmont
?/+ 2 1_11i c.-75398_1759+1708del Deletion of Exon 1-11; g.26446264-?_26514134+?del, 1 more item r.spl p.(=) Class 5 - g.47554933_47699909del - Hampel et al., 2005, Hampel et al., 2006 MSH2_001624 - - Germline (inherited) - Michael Woods
?/+ 2 1_7i c.-47156_1277-4980del Deletion of Exon 1-7, g.26399108_26483640del84533 (NT_022184) r.spl p.(=) Class 5 - g.47583175_47667707del - Nakagawa et al., 2003, Hampel et al., 2005 MSH2_000856 - - Germline (inherited) - Michael Woods
?/+ 3 1_7i c.-35298_1276+5697del Deletion of Exon 1-7 r.spl p.(=) Class 5 - g.47595033_47662777del - Staaf et al., 2008; Charbonnier et al., 2005, Nilbert et al., 2002, 1 more item MSH2_000938 - - Germline (inherited) - Michael Woods
?/+ 5 1_6i c.-11844_1077-6021delins(155) del ex1_6, 32372 bp, Deletion of Exon 1-6; g.26440374_26472747 (del 32373 + ins 155), 2 more items r.spl p.(=) Class 5 - g.47618487_47650860delins(155) - van der Klift et al., 2005, Stella et al., 2007, Barana et al., 2004 MSH2_001602 - - Germline (inherited) - Juul Wijnen, Michael Woods
?/+ 2 1_2i c.-4729_367-353del Deletion of Exon 1-2, Deletion of Exon 1-2, g.26441535_26452813del11279 (NT_022184) r.? p.? Class 5 - g.47625602_47636880del - Pyatt et al., 2003, Nakagawa et al., 2003 MSH2_000862 - - Germline (inherited) - Michael Woods
?/+ 2 1_3i c.-1753_645+922del Deletion of Exon 1-3; g.26444511_26454366 (del 9855), Deletion of Exon 1-3; g.2644511_26454366del9855 r.spl p.(=) Class 5 - g.47628578_47638433del - Stella et al., 2007 MSH2_001625 - - Germline (inherited) - Michael Woods
?/+ 1 1_6i c.-956_1077-5607del del ex1_6, 21899 bp r.spl p.(=) Class 5 - g.47629375_47651274del - van der Klift et al., 2005; Wagner et al., 2003 MSH2_001603 - - Germline (inherited) - Juul Wijnen
?/+ 14 1_6i c.-823_1076+5984del del ex1_6, 20045 bp, Deletion of Exon 1-6, g.5330483_5349647del19165 (NT_034483), Deletion of Exon 1-6, 2 more items r.spl p.(=) Class 5 - g.47629508_47649552del - van der Klift et al., 2005, Lynch et al., 2004, Nakagawa et al., 2003, Baudhuin et al., 2005, 4 more items MSH2_001604 - - Germline (inherited) - Juul Wijnen, Michael Woods
?/- 2 1 c.-433T>G - r.(=) p.(=) Class 1 - g.47629898T>G - Schafmayer et al., 2007, {dbSNP1863332} MSH2_001224 - - Germline (inherited) - Michael Woods
?/? 2 1 c.-225G>C - r.(=) p.(=) Class 3 - g.47630106G>C - Shin et al., 2002, Shin et al., 2004 MSH2_001140 - Functional studies indicated that activity increased by 466%, Gene regulation defect Germline (inherited) - Michael Woods
?/? 2 1 c.-190C>T - r.(=) p.(=) Class 3 - g.47630141C>T - Shin et al., 2004, Shin et al., 2002 MSH2_001054 - Authors describe this as a gene regulation defect, 1 more item Germline (inherited) - Michael Woods
?/? 1 1 c.-185C>A - r.(=) p.(=) - - g.47630146C>A - - MSH2_001590 - - Unknown - Tatiane Pastor
?/? 1 1 c.-140G>T - r.(=) p.(=) - - g.47630191G>T - - MSH2_000112 - - Unknown - John Paul Plazzer
?/- 14 1 c.-118T>C c.1-118T>C, Authors describe this as -118 C>T., Authors describe this variant as -118C>T., 1 more item r.(?), r.(=) p.?, p.(=) Class 1 - g.47630213T>C - {microatt:1000104, Kristina Lagerstedt Robinson}, Chen et al., 2008, Christensen et al., 2008, 6 more items MSH2_000892 - 2 more items Germline (inherited) - InSiGHT group, Michael Woods, Thomas v. O. Hansen
?/. 1 1 c.-116G>T c.-116G>T r.(=) p.(=) Not classified - g.47630215G>T - - MSH2_000027 - - Germline (inherited) - Thomas v. O. Hansen
?/? 2 1 c.-81dup Authors describe this as -80 ins A. r.(=) p.(=) Class 3 - g.47630250dup - Shin et al., 2002, Shin et al., 2004 MSH2_001288 - Functional studies indicated that activity decreased by 82%., 1 more item Germline (inherited) - Michael Woods
+/+? 1 1 c.-78_-77del - r.(=) p.(=) Class 4 - g.47630253_47630254del - Yan et al., 2007 MSH2_001272 - 1 more item Germline (inherited) - Michael Woods
?/. 1 1 c.-73G>A c.-73G>A r.(=) p.(=) Not classified - g.47630258G>A - - MSH2_000250 - - Germline (inherited) - Thomas v. O. Hansen
+/? 1 _1_1i c.(?_-125)_(211+1_212-1)del - r.0? p.0? - - g.(?_47630206)_(47630542_47635539)del - - MSH2_000040 - Submitted by ICCon – South Australia Germline (inherited) - ICCon
+/+ 1 _1_2i c.(?_-125)_(366+1_367-1)del c.(?_-68)_366+?del/Del exon 1-2 r.0? p.0? Class 5 - g.(?_47630206)_(47635695_47637232)del - - MSH2_000041 - - Germline (inherited) - Thomas v. O. Hansen
+/? 1 _1_6i c.(?_-125)_(1076+1_1077-1)del - r.0? p.0? - - g.(?_47630206)_(47643569_47656880)del - - MSH2_000235 - Submitted by ICCon – South Australia Germline (inherited) - ICCon
+/? 1 _1_6i c.(?_-125)_(1276+1_1277-1)del - r.0? p.0? - - g.(?_47630206)_(47657081_47672686)del - - MSH2_000038 - Submitted by ICCon – South Australia Germline (inherited) - ICCon
+/?, +/+ 3 _1_8i c.(?_-125)_(1386+1_1387-1)del c.(?_-68)_1386+?del/Del exon 1-8, c.(?_-68)_1386+?del r.0? p.0? Class 5 - g.(?_47630206)_(47672797_47690169)del - - MSH2_000238 - Submitted by ICCon – South Australia Germline (inherited), De novo - ICCon, Thomas v. O. Hansen, Ian Frayling
+/. 1 6 c. 1042C>T - r.(?) p.(Gln348*) - - g.47643534C>T - - MSH2_000058 - - Germline (inherited) - Takashi Takeda
+/+ 2 _1_6i c.(?_-125)_(1276+1_1277-1)del ex 1-7 del r.0? p.0? - - g.(?_47630206)_(47657081_47672686)del - Liu 2001, {OMIM600258:0001} MSH2_000038 - - Germline (inherited) yes Johan den Dunnen
?/? 2 1 c.1A>C - r.(?) p.? Class 3 - g.47630331A>C - Barnetson et al., 2006, Barnetson et al., 2008 MSH2_001065 - - Germline (inherited) - Michael Woods
?/? 2 1 c.1A>G Deletion of Exon 1-6; r.(?) p.? Class 3 - g.47630331A>G - Kets et al., 2009 MSH2_001066 - - Germline (inherited) - Michael Woods
+/? 1 1 c.1A>T Authors suggest start codon at Met26. r.? p.? Class 3 - g.47630331A>T - Farrington et al., 1998 MSH2_000030 - - Germline (inherited) - InSiGHT group
+/? 2 _1_1i c.(?_-1)_(211+1_212-1)del - r.0? p.0? - - g.(?_47630330)_(47630542_47635539)del - - MSH2_000005 - ICCON data, Royal Prince Alfred/Liverpool, NSW, ICCON data, Westmead, NSW Germline (inherited) - John Paul Plazzer
+/? 2 _1_1i c.(?_-125)_(211+1_211-1)del c.1-?_211+?del r.0? p.0? Class 5 - g.(?_47630206)_(47630542_47635539)del - - MSH2_000040 - Submitted by ICCon – South Australia Germline (inherited) - ICCon
+/? 2 _1_2i c.(?_-1)_(366+1_367-1)del - 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 (inherited) - John Paul Plazzer
+/? 2 _1_2i c.(?_-125)_(366+1_367-1)del c.1-?_366+?del r.0? p.0? Class 5 - g.(?_47630206)_(47635695_47637232)del - - MSH2_000041 - Submitted by ICCon – South Australia Germline (inherited) - ICCon
+/? 1 _1_4i c.(?_-1)_(792+1_793-1)del - r.0? p.0? - - g.(?_47630330)_(47639700_47641407)del - - MSH2_000008 - ICCON data, Westmead, NSW Germline (inherited) - John Paul Plazzer
+/? 2 1_7 c.(?_-1)_(1276+1_1277-1)del - r.0? p.0? - - g.(?_47630330)_(47657081_47672686)del - - MSH2_000002 - ICCON data, Prince of Wales Hospital, NSW, ICCON data, Westmead, NSW Germline (inherited) - John Paul Plazzer
+/? 1 1_10 c.(?_-1)_(1661+1_1662-1)del - r.0? p.0? - - g.(?_47630330)_(47693948_47698103)del - - MSH2_000003 - ICCON data, Royal Prince Alfred/Liverpool, NSW Germline (inherited) - John Paul Plazzer
+/? 1 _1_14i c.(?_-125)_(2458+1_2459-1)del c.1_2458del r.? p.0? - - g.(?_47630206)_(47705659_47707834)del - 1 more item MSH2_000046 - Exon deletion (1-14) Germline (inherited) ? John Paul Plazzer
?/-?, -/-? 19 1 c.4G>A G>A at 4, A2T r.4g>a p.Ala2Thr Class 2 - g.47630334G>A - Mangold et al., 2005; Mangold et al., 2005, Myriad et al.,, Mangold et al., 2005, Mangold et al., 2005, 5 more items MSH2_000276 - {GR:344} Germline (inherited), Unknown - Prof. Dr. med. Peter Propping, InSiGHT group, Beate Dr. Betz, Rolf Sijmons, Michael Woods, Amie Blanco
?/?, +/? 2 1 c.4_21dup ex2-7dup r.(?) p.(Ala2_Glu7dup) Class 3 - g.47630334_47630351dup - Kruger et al., 2003, Kruger et al., 2003; Mangold et al., 2005 MSH2_001221 - - Germline (inherited) - Michael Woods, InSiGHT group
?/-? 1 1 c.6G>T - r.(?) p.(=) Class 2 - g.47630336G>T - Thompson et al., 2013 MSH2_001383 - - Germline (inherited) - Mark Jenkins
?/?, +/? 4 1 c.14C>A P5Q, Authors describe this as A>C at 14 and Pro>His, C>A r.14c>a p.Pro5Gln Class 3 - g.47630344C>A - Chao et al., 2008, Sun et al., 2004, Wang et al., 2005, Cai et al., 2003 MSH2_000277 - {GR:531} Germline (inherited) - Rolf Sijmons, Michael Woods, InSiGHT group
+/. 1 - c.17_20del Frameshift r.(?) p.(Lys6Argfs*57) - - g.47630347_47630350del - Lagerstedt-Robinson et al. 2016 MSH2_001648 - - Germline (inherited) - Kristina Lagerstedt Robinson
+/? 1 1 c.19_20insT - r.(?) p.(Glu7Valfs*75) - - g.47630349_47630350insT - - MSH2_000147 - Submitted by ICCon – South Australia Germline (inherited) - ICCon
+?/+ 1 1 c.20del - r.(?) p.(Glu7Glyfs*57) Class 5 - g.47630350del - Julie et al., 2008 MSH2_001103 - - Germline (inherited) - Michael Woods
?/+ 1 1 c.21dup - r.(?) p.(Thr8Aspfs*74) Class 5 - g.47630351dup - Kim et al., 2001 MSH2_001118 - - Germline (inherited) - Michael Woods
-?/-, ?/-, ./- 10 1 c.23C>T T8M r.(?), r.23c>u p.(Thr8Met), p.Thr8Met Class 1 - g.47630353C>T - Zhang et al. 2018, Chao et al., 2008, Nomura et al., 2000, Yamada et al., 2003, Wang et al., 2006, 1 more item MSH2_000055 - {GR:532} Unknown, Germline (inherited) - John Paul Plazzer, Rolf Sijmons, Michael Woods, Carli Tops, Peng Nan, Jack Ji
./. 1 - c.26T>C - r.(?) p.(Leu9Pro) - - g.47630356T>C - copied from Global Variome shared database MSH2_001692 - - Germline (inherited) - Johan den Dunnen
?/+ 1 1 c.28C>T - r.(?) p.(Gln10*) Class 5 - g.47630358C>T - Mangold et al., 2005 MSH2_001199 - - Germline (inherited) - Michael Woods
?/+ 1 1 c.29dup - r.(?) p.(Leu11Valfs*71) Class 5 - g.47630359dup - Mangold et al., 2005 MSH2_001202 - - Germline (inherited) - Michael Woods
?/+, +/+ 3 1 c.34dup - r.(?) p.(Glu12Glyfs*70) Class 5 - g.47630364dup - Colombino et al., 2003, Colombino et al., 2005, Colombino et al., 2003, Genuardi et al., (unpublished) MSH2_001208 - - Germline (inherited) - Michael Woods, MAURIZIO GENUARDI
-/?, ?/? 4 1 c.38G>T S13I r.(?) p.(Ser13Ile) Class 3 - g.47630368G>T - Chao et al., 2008, Colombino et al., 2003, Colombino et al., 2005 MSH2_000049 - {GR:436} Unknown, Germline (inherited) - Rolf Sijmons, Michael Woods
?/?, +/?, -/? 6 1 c.49G>T V17F r.(?) p.(Val17Phe) Class 3 - g.47630379G>T - Chao et al., 2008, Kim et al., 2004, Kim et al., 2001 MSH2_000059 - {GR:438} Germline (inherited), Unknown - Rolf Sijmons, Michael Woods
?/? 1 1 c.54C>G - r.(?) p.(=) Class 3 - g.47630384C>G - Wang et al., 2006 MSH2_001240 - - Germline (inherited) - Michael Woods
./. 1 - c.55T>C - r.(?) p.(Phe19Leu) - - g.47630385T>C - copied from Global Variome shared database MSH2_001692 - - Germline (inherited) - Johan den Dunnen
+/. 1 1 c.71del c.71delA r.(?) p.(Gln24Argfs*40) - - g.47630401del - Dominguez-Valentin et al. 2013, Rossi et al. 2017 MSH2_000244 - 1 more item Germline (inherited) - MEV DOMINGUEZ VALENTIN
?/+ 1 1 c.71dup Authors describe this as 72insA causing a frameshift with a stop at codon 81. r.(?) p.(Met26Hisfs*56) Class 5 - g.47630401dup - Becouarn et al., 2005 MSH2_000847 - - Germline (inherited) - Michael Woods
?/+ 1 1 c.73_74insC Authors describe this as 73insC. r.(?) p.(Gly25Alafs*57) Class 5 - g.47630403_47630404insC - Kim et al., 2001 MSH2_000848 - - Germline (inherited) - Michael Woods
./. 1 - c.76_103del - r.(?) p.(Met26Alafs*29) - - g.47630406_47630433del - copied from Global Variome shared database MSH2_001693 - - Germline (inherited) - Johan den Dunnen
+/. 1 1 c.79_82dup c.79_82dup r.(?) p.(Glu28Alafs*54) - - g.47630409_47630412dup - - MSH2_000251 - - De novo - Ian Frayling
?/+ 1 1 c.82del - r.(?) p.(Glu28Argfs*36) Class 5 - g.47630412del - Becouarn et al., 2005; Bonadona et al., 2011 MSH2_001287 - - Germline (inherited) - Michael Woods
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