All transcript variants in gene MSH2

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

6346 entries on 64 pages. Showing entries 1 - 100.
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Effect     

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     
?/? 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
?/? 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
?/? 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
?/? 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
?/? 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
?/+ 6i_16_ c.(1076+1_1077-1)_(*279_?)del del Ex7_16, =153 kb r.spl p.? Class 5 - g.(47643569_47656880)_(47710367_?)del - van der Klift et al., 2005 MSH2_000306 - - Germline (inherited) - Carli Tops
?/+ 6i_16_ c.(1076+1_1077-1)_(*279_?)del Deletion of Exon 7-16 r.spl p.? Class 5 - g.(47643569_47656880)_(47710367_?)del - Oh et al., 1999 MSH2_000306 - - In vitro (cloned) - Michael Woods
?/+ 6i_16_ c.(1076+1_1077-1)_(*279_?)del Deletion of Exon 7-16 r.spl p.? Class 5 - g.(47643569_47656880)_(47710367_?)del - Baudhuin et al., 2005 MSH2_000306 - - Germline (inherited) - Michael Woods
?/+ 6i_16_ c.(1076+1_1077-1)_(*279_?)del Deletion of Exon 7-16 r.spl p.? Class 5 - g.(47643569_47656880)_(47710367_?)del - Martinez-Bouzas et al., 2007 MSH2_000306 - - Germline (inherited) - Michael Woods
?/+ 6i_16_ c.(1076+1_1077-1)_(*279_?)del Deletion of Exon 7-16 r.spl p.? Class 5 - g.(47643569_47656880)_(47710367_?)del - Kurzawski et al., 2006 MSH2_000306 - - Germline (inherited) - Michael Woods
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)del Deletion of Exon 8-16, =47 kb r.spl p.? Class 5 - g.(47657081_47672686)_(47710367_?)del - van der Klift et al., 2005 MSH2_000372 - - Germline (inherited) - Carli Tops
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)del Deletion of Exon 8-16 r.spl p.? Class 5 - g.(47657081_47672686)_(47710367_?)del - Pistorius et al., 2007 MSH2_000372 - - Germline (inherited) - Michael Woods
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)del Deletion of Exon 8-16 r.spl p.? Class 5 - g.(47657081_47672686)_(47710367_?)del - Zhang et al., 2006 MSH2_000372 - - Germline (inherited) - Michael Woods
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)del Deletion of Exon 8-16 r.spl p.? Class 5 - g.(47657081_47672686)_(47710367_?)del - Pistorius et al., 2007 MSH2_000372 - - Germline (inherited) - Michael Woods
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)del Deletion of Exon 8-16 r.spl p.? Class 5 - g.(47657081_47672686)_(47710367_?)del - Bujalkova et al., 2008 MSH2_000372 - - Germline (inherited) - Michael Woods
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)inv Authors describe this as a paracentric inversion; Breakpoints within intron 7 and 10 MB 3' of MSH2 r.spl p.? Class 5 - g.(47657081_47672686)_(47710367_?)inv - Wagner et al., 2002 MSH2_000000 - - Germline (inherited) - Michael Woods
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)inv Inversion of Exon 8-16 r.spl p.? Class 5 - g.(47657081_47672686)_(47710367_?)inv - van der Klift et al., 2005 MSH2_000000 - - Germline (inherited) - Juul Wijnen
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)inv Inversion of Exon 8-16 r.spl p.? Class 5 - g.(47657081_47672686)_(47710367_?)inv - Wagner et al., 2003 MSH2_000000 - - Germline (inherited) - Michael Woods
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Exon 9 to Exon 16 c.1387-?_2805+?del p.Val463_*935del r.spl p.? Class 5 - g.(47672797_47690169)_(47710367_?)del - {microatt:1003105, Desiree du Sart} MSH2_000948 - - Germline (inherited) - InSiGHT group
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Deletion of Exon 9-16 r.spl p.? Class 5 - g.(47672797_47690169)_(47710367_?)del - Akrami et al., 2005 MSH2_000948 - - Germline (inherited) - Michael Woods
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Deletion of Exon 9-16 r.spl p.? Class 5 - g.(47672797_47690169)_(47710367_?)del - Castellvi-Bel et al., 2005 MSH2_000948 - - Germline (inherited) - Michael Woods
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Deletion of Exon 9-16 r.spl p.? Class 5 - g.(47672797_47690169)_(47710367_?)del - Grabowski et al., 2005 MSH2_000948 - - Germline (inherited) - Michael Woods
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Deletion of Exon 9-16 r.spl p.? Class 5 - g.(47672797_47690169)_(47710367_?)del - McVety et al., 2006; Chong et al., 2009 MSH2_000948 - - Germline (inherited) - Michael Woods
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Deletion of Exon 9-16 (>19Kb Deletion) r.spl p.? Class 5 - g.(47672797_47690169)_(47710367_?)del - Taylor et al., 2003 MSH2_000948 - - Germline (inherited) - Michael Woods
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Deletion of Exon 9-16 r.spl p.? Class 5 - g.(47672797_47690169)_(47710367_?)del - Bunyan et al., 2004 MSH2_000948 - - Germline (inherited) - Michael Woods
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Deletion of Exon 9-16 r.spl p.? Class 5 - g.(47672797_47690169)_(47710367_?)del - Pinol et al., 2005; Perez-Carbonell et al., 2012 MSH2_000948 - - Germline (inherited) - Michael Woods
?/+ 10i_16_ c.(1661+1_1662-1)_(*279_?)del c.1662-?_2805+?del (Del ex11-16 (18 Kb)) r.spl p.Lys555_*935del Class 5 - g.(47693948_47698103)_(47710367_?)del - {microatt:1000355, José Luis Soto} MSH2_001001 - Unknown Germline (inherited) - InSiGHT group
?/+ 10i_16_ c.(1661+1_1662-1)_(*279_?)del Deletion of Exon 11-16 r.spl p.? Class 5 - g.(47693948_47698103)_(47710367_?)del - Sanchez de Abajo et al., 2006 MSH2_001001 - - Germline (inherited) - Michael Woods
?/+ 10i_16_ c.(1661+1_1662-1)_(*279_?)del Deletion of Exon 11-16 r.spl p.? Class 5 - g.(47693948_47698103)_(47710367_?)del - Martinez-Bouzas et al., 2007 MSH2_001001 - - Germline (inherited) - Michael Woods
?/? 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
?/+ 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 MSH2_001034 - - Germline (inherited) - Michael Woods
?/+ 11i_16_ c.(1759+1_1760-1)_(*279_?)del Deletion of Exon 12-16 r.spl p.? Class 5 - g.(47698202_47702163)_(47710367_?)del - Niessen et al., 2006 MSH2_001034 - - Germline (inherited) - Michael Woods
?/+ 14i_16_ c.(2458+1_2459-1)_(*279_?)del c.2459-?_(*272_?)del r.spl p.? Class 5 - g.(47705659_47707834)_(47710367_?)del - {microatt:1002731, Elke Holinski-Feder and Monika Morak} MSH2_000681 - 4x, MSI-H all 3 cases analysed, IHC MSH2+MSH6 pos. in 1 case, MSH2 loss in 2 cases, 1 Amsterdam-pos. family history, age of onset 35-44 y CC Germline (inherited) - InSiGHT group
+/+ 14i_16_ c.(2458+1_2459-1)_(*279_?)del del ex15-16 r.spl p.? Class 5 - g.(47705659_47707834)_(47710367_?)del - - MSH2_000681 - - Germline (inherited) - Prof. Dr. med. Peter Propping
?/+ 14i_16_ c.(2458+1_2459-1)_(*279_?)del Deletion of Exon 15-16 r.spl p.? Class 5 - g.(47705659_47707834)_(47710367_?)del - Mangold et al., 2004 MSH2_000681 - - Germline (inherited) - Michael Woods
?/+ 14i_16_ c.(2458+1_2459-1)_(*279_?)del Deletion of Exon 15-16 r.spl p.? Class 5 - g.(47705659_47707834)_(47710367_?)del - Mangold et al., 2005 MSH2_000681 - - Germline (inherited) - Michael Woods
?/+ 14i_16_ c.(2458+1_2459-1)_(*279_?)del Deletion of Exon 15-16 r.spl p.? Class 5 - g.(47705659_47707834)_(47710367_?)del - Grabowski et al., 2005 MSH2_000681 - - Germline (inherited) - Michael Woods
?/+ 15i_16_ c.(2634+1_2635-1)_(*279_?)del c.2635-?_2805+?del r.spl p.? Class 5 - g.(47708011_47709917)_(47710367_?)del - {microatt:1000181, Nicola Poplawski} MSH2_000195 - - Germline (inherited) - InSiGHT group
?/+ 15i_16_ c.(2634+1_2635-1)_(*279_?)del Exon 16 c.2635-?_2805+?del p.Gln879_*935del r.spl p.? Class 5 - g.(47708011_47709917)_(47710367_?)del - {microatt:1002993, Desiree du Sart} MSH2_000195 - - Germline (inherited) - InSiGHT group
?/+ 15i_16_ c.(2634+1_2635-1)_(*279_?)del Exon 16 c.2635-?_2805+?del p.Gln879_*935del r.spl p.? Class 5 - g.(47708011_47709917)_(47710367_?)del - {microatt:1003132, Desiree du Sart} MSH2_000195 - - Germline (inherited) - InSiGHT group
?/+ 15i_16_ c.(2634+1_2635-1)_(*279_?)del Exon 16 c.2635-?_2805+?del p.Gln879_*935del r.spl p.? Class 5 - g.(47708011_47709917)_(47710367_?)del - {microatt:1003142, Desiree du Sart} MSH2_000195 - - Germline (inherited) - InSiGHT group
?/+ 15i_16_ c.(2634+1_2635-1)_(*279_?)del Deletion of Exon 16, =3.5 kb r.spl p.? Class 5 - g.(47708011_47709917)_(47710367_?)del - van der Klift et al., 2005 MSH2_000195 - - Germline (inherited) - Juul Wijnen
?/+ 15i_16_ c.(2634+1_2635-1)_(*279_?)del Deletion of Exon 16, Authors describe this as c.2635+?_(*3084)del. r.spl p.? Class 5 - g.(47708011_47709917)_(47710367_?)del - Sheng et al., 2008 MSH2_000195 - - Germline (inherited) - Michael Woods
?/+ 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 MSH2_001255 - - Germline (inherited) - Michael Woods
?/+ 3i_16_ c.(645+1_646-1)_(*279_?)del Deletion of Exon 4-16 r.spl p.? Class 5 - g.(47637512_47639552)_(47710367_?)del - Woods et al., 2005 MSH2_001255 - - Germline (inherited) - Michael Woods
?/+ 3i_16_ c.(645+1_646-1)_(*279_?)del Deletion of Exon 4-16 r.spl p.? Class 5 - g.(47637512_47639552)_(47710367_?)del - Stuckless et al., 2007 MSH2_001255 - - Germline (inherited) - Michael Woods
?/+ _1_16_ c.(?_-125)_(*279_?)del del ex 1_16, >80kb r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - van der Klift et al., 2005 MSH2_000043 - - Germline (inherited) - Juul Wijnen
?/+ _1_16_ c.(?_-125)_(*279_?)del del 1_16 r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - - MSH2_000043 - - Germline (inherited) - Carli Tops
?/+ _1_16_ c.(?_-125)_(*279_?)del del MSH2 ex1_16, delTACSTD1-15,-27, del MSH6 r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - - MSH2_000043 - - Germline (inherited) - Carli Tops
?/+ _1_16_ c.(?_-125)_(*279_?)del del 1_16 r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - - MSH2_000043 - - Germline (inherited) - Carli Tops
+/+ _1_16_ c.(?_-125)_(*279_?)del del ex01-16 r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - - MSH2_000043 - - Germline (inherited) - Prof. Dr. med. Peter Propping
+/+ _1_16_ c.(?_-125)_(*279_?)del del ex01-16 r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - - MSH2_000043 - - Germline (inherited) - Prof. Dr. med. Peter Propping
+/+ _1_16_ c.(?_-125)_(*279_?)del del ex01-16 r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - - MSH2_000043 - - Germline (inherited) - Prof. Dr. med. Peter Propping
+/+ _1_16_ c.(?_-125)_(*279_?)del - r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - {microatt:1000594, Maurizio Genuardi} MSH2_000043 - - Germline (inherited) - MAURIZIO GENUARDI
+/+ _1_16_ c.(?_-125)_(*279_?)del - r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - {microatt:1000595, Maurizio Genuardi} MSH2_000043 - - Germline (inherited) - MAURIZIO GENUARDI
?/+ _1_16_ c.(?_-125)_(*279_?)del deletion EPCAM exon 3 (c.185-?) to MSH2 exon 16 (*272_?) r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - {microatt:1003310, Desiree du Sart} MSH2_000043 - - Germline (inherited) - InSiGHT group
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion exons 1-16 r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - - MSH2_000043 - - Unknown - James Whitworth
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - Wang et al., 2003 MSH2_000043 - - Germline (inherited) - Michael Woods
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - Grabowski et al., 2005 MSH2_000043 - - Germline (inherited) - Michael Woods
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - Wang et al., 2002 MSH2_000043 - - Germline (inherited) - Michael Woods
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16; Identified in CCRF± HSB-2 cell line r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - Gu et al., 2002 MSH2_000043 - - In vitro (cloned) - Michael Woods
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - Mangold et al., 2005 MSH2_000043 - - Germline (inherited) - Michael Woods
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - van der Klift et al., 2005 MSH2_000043 - - Germline (inherited) - Michael Woods
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - Pastrello et al., 2006 MSH2_000043 - - Germline (inherited) - Michael Woods
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - Mangold et al., 2005 MSH2_000043 - - Germline (inherited) - Michael Woods
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - Pistorius et al., 2007 MSH2_000043 - - Germline (inherited) - Michael Woods
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - Pistorius et al., 2007 MSH2_000043 - - Germline (inherited) - Michael Woods
?/+ _1_16_ c.(?_-125)_(*279_?)del c.(?_-68)_(*272_?)del r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - {microatt:1000446, Mark Jenkins; John Hopper} MSH2_000043 - - Germline (inherited) - InSiGHT group
?/+ _1_16_ c.(?_-125)_(*279_?)del c.(?_-68)_(*272_?)del r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - {microatt:1002751, Elke Holinski-Feder and Monika Morak} MSH2_000043 - 1x male 29 y CC asc. T3 N1, MSI-H, IHC loss of MSH2 + MSH6, MLH1 positive, Bethesda-pos. Germline (inherited) - InSiGHT group
?/+ _1_16_ c.(?_-125)_(*279_?)del Exon 1 to Exon 16 c.1-?_2805+?del p.Met1_*935del r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - {microatt:1003007, Desiree du Sart} MSH2_000043 - - Germline (inherited) - InSiGHT group
?/+ _1_16_ c.(?_-125)_(*279_?)del Exon 1 to Exon 16 c.1-?_2805+?del p.Met1_*935del r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - {microatt:1003044, Desiree du Sart} MSH2_000043 - - Germline (inherited) - InSiGHT group
?/+ _1_16_ c.(?_-125)_(*279_?)del Exon 1 to Exon 16 c.1-?_2805+?del p.Met1_*935del r.0? p.0? Class 5 - g.(?_47630206)_(47710367_?)del - {microatt:1003102, Desiree du Sart} MSH2_000043 - - Germline (inherited) - InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex1_6, =78 kb r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - van der Klift et al., 2005 MSH2_000235 - - Germline (inherited) - Juul Wijnen
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex1_6, >25 kb r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - van der Klift et al., 2005, Hendriks et al., 2003 MSH2_000235 - - Germline (inherited) - Juul Wijnen
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex1_6, =15 kb r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - van der Klift et al., 2005 MSH2_000235 - - Germline (inherited) - Juul Wijnen
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex1_6, =41 kb r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - van der Klift et al., 2005 MSH2_000235 - - Germline (inherited) - Juul Wijnen
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex1_6, >25 kb r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - van der Klift et al., 2005, Hendriks et al., 2003 MSH2_000235 - - Germline (inherited) - Juul Wijnen
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex1_6, >25 kb r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - van der Klift et al., 2005 MSH2_000235 - - Germline (inherited) - Juul Wijnen
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex01-06 r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - - MSH2_000235 - - Germline (inherited) - Prof. Dr. med. Peter Propping
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex01-06 r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - - MSH2_000235 - - Germline (inherited) - Prof. Dr. med. Peter Propping
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex01-06 r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - - MSH2_000235 - - Germline (inherited) - Prof. Dr. med. Peter Propping
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex01-06 r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - - MSH2_000235 - - Germline (inherited) - Prof. Dr. med. Peter Propping
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del ex01_ex06del r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - - MSH2_000235 - - Germline (inherited) - Beate Dr. Betz
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del - r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - van der Klift et al., 2005 MSH2_000235 - - Germline (inherited) - InSiGHT group
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del ex1-6del r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - van der Klift et al., 2005 MSH2_000235 - - Germline (inherited) - InSiGHT group
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del - r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - van der Klift et al., 2005 MSH2_000235 - - Germline (inherited) - InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del c.(?_-68)_1076+?del r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - {microatt:1000627, Leung et al, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, unpublished data} MSH2_000235 - - Germline (inherited) - InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del c.(?_-68)_1076+?del r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - {microatt:1002736, Elke Holinski-Feder and Monika Morak} MSH2_000235 - 2x: female 49 y C18.0, 47 y C.66 Ureterca, CC MSI-H, IHC loss of MSH2 + MSH6, MLH1 and PMS2 positive, male: 51 y syncr. CC caecum and transversum, no MSA or IHC, Bethesda-pos. Germline (inherited) - InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del Exon 1 to Exon 6 c.1-?_1076+?del p.Met1Ilefs*29 (reported as p.Met1?) r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - {microatt:1003008, Desiree du Sart} MSH2_000235 - - Germline (inherited) - InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del Exon 1 to Exon 6 c.1-?_1076+?del p.Met1Ilefs*29 (reported as p.Met1?) r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - {microatt:1003078, Desiree du Sart} MSH2_000235 - - Germline (inherited) - InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del Exon 1 to Exon 6 c.1-?_1076+?del p.Met1Ilefs*29 (reported as p.Met1?) r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - {microatt:1003084, Desiree du Sart} MSH2_000235 - - Germline (inherited) - InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del Exon 1 to Exon 6 c.1-?_1076+?del p.Met1Ilefs*29 (reported as p.Met1?) r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - {microatt:1003194, Desiree du Sart} MSH2_000235 - - Germline (inherited) - InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del Exon 1 to Exon 6 c.1-?_1076+?del p.Met1Ilefs*29 (reported as p.Met1?) r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - {microatt:1003291, Desiree du Sart} MSH2_000235 - - Germline (inherited) - InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del MSH2:c.1-?_1076+?del r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - {microatt:1003355, Ian Frayling, Treena Cranston} MSH2_000235 - - Germline (inherited) - InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del MSH2:c.1-?_1076+?del r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - {microatt:1003356, Ian Frayling, Treena Cranston} MSH2_000235 - - Germline (inherited) - InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del MSH2:c.1-?_1076+?del r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - {microatt:1003357, Ian Frayling - Cardiff} MSH2_000235 - - Germline (inherited) - InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del deletion exon 1-6 r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - {microatt:1002804, Gabriel Capellá} MSH2_000235 - Nº affected carriers / family:1 Germline (inherited) - InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del deletion EPCAM exon 9 (c.904-?) to MSH2 exon 6 (c.1076+?) r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - {microatt:1003315, Desiree du Sart} MSH2_000235 - - Germline (inherited) - InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del - r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - Overbeek et al., 2007; Kets et al., 2009 MSH2_000235 - Authors describe this variant as generating an MSH2 product due the MSH2 staining (although staining was weak) present by immunohistochemistry. Identified in a sib pair with numerous Lynch syndrome cancers in their 30s and 40s. Germline (inherited) - Michael Woods
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del Deletion of Exon 1-6 r.0? p.0? Class 5 - g.(?_47630206)_(47643569_47656880)del - de Vos et al., 2005 MSH2_000235 - - Germline (inherited) - Michael Woods
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