Unique variants in gene MSH6

Information The variants shown are described using the NM_000179.2 transcript reference sequence.

873 entries on 9 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     
?/? 2 1i_2i c.(260+1_261-1)_(457+1_458-1)dup 265-?_457+?dup (duplication exon 2) r.? p.? Class 3 - g.(48010633_48018065)_(48018263_48023032)dup - Kets et al., 2006, Overbeek et al., 2007 MSH6_000454 - - Germline (inherited) - Michael Woods
?/? 1 4i_6i c.(3172+1_3173-1)_(3556+1_3557-1)del Exon 5 to Exon 6 c.3173-?_3556+?del r.(?) p.(Asp1058_Ser1185del) - - g.(48028295_48030558)_(48032167_48032756)del - {microatt:1003329, Desiree du Sart} MSH6_000856 - - Germline (inherited) - InSiGHT group
+/+ 1 6i_10_ c.(3556+1_3557-1)_(*93_?)del - r.? p.? Class 5 - g.(48032167_48032756)_(48034092_?)del - - MSH6_000363 - - Germline (inherited) - Prof. Dr. med. Peter Propping
?/+ 1 2i_6i c.(457+1_458-1)_(3556+1_3557-1)del Exon 3 to Exon 6 c.458-?_3556+?del p.Ser154_Gln1186del r.(?) p.(Ser154_Gly1186del) Class 5 - g.(48018263_48023032)_(48032167_48032756)del - {microatt:1003099, Desiree du Sart} MSH6_000831 - - Germline (inherited) - InSiGHT group
?/+, ?/? 2 2i_3i c.(457+1_458-1)_(627+1_628-1)del Exon 3 c.458-?_627+?del p.Ser154Argfs*8 r.(?) p.(Ser154Argfs*8) Class 5 - g.(48018263_48023032)_(48023203_48025749)del - {microatt:1003064, Desiree du Sart} MSH6_000336 - - Germline (inherited) - Carli Tops, InSiGHT group
+/? 1 _1_3i c.(?_-1)_(645+1_646-1)del c.1?_645+?del r.? p.0? - - g.? - - MSH6_000893 - Submitter has reported the nomenclature for deletion of MSH2 exon 1 to 3 not MSH6 Germline (inherited) - José Luis Soto
?/?, ?/+, +?/+ 3 _1_10_ c.(?_-152)_(*93_?)del del MSH2 ex1_16, delTACSTD1-15,-27, del MSH6 r.? p.? Class 5 - g.(?_48010221)_(48034092)del - Nilbert et al., 2008 MSH6_000911 - deletion entire gene Germline (inherited) - Carli Tops, Michael Woods, Amanda Spurdle
?/+ 4 _1_2i c.(?_-152)_(457+1_458-1)del c.1-?_475+?del, c.1-?_457+?del, MSH6:c.(?_-152)_457+?del breakpoint not tested r.? p.? Class 5 - g.(?_48010221)_(48018263_48023032)del - Kets et al., 2006, Overbeek et al., 2007, {microatt:1002595, Carli Tops}, 1 more item MSH6_000001 - deletion of exon 1-2, deletion of 21.6 kb around exon 1+2, in cis with c.2008G>A,p.Gly670Arg Germline (inherited) - Michael Woods, InSiGHT group
?/? 1 4 c.(?_904)_(1144_?)del - r.? p.? - - g.(?_48026026)_(48026266)del - Nicolaides et al., 1994 MSH6_000912 - somatic out-of-frame deletion that results in the deletion of codons 301-381 Somatic - Michael Woods
?/? 1 10 c.*185T>G insT in IVS7+4 r.? p.? - - g.48034184T>G - Chaksangchaichot et al., 2007 MSH6_000373 - - Somatic - Michael Woods
?/? 1 10 c.*24_*28del - r.(=) p.(=) Class 3 - g.48034023_48034027del - Thompson et al., 2013 MSH6_000787 - - Germline (inherited) - Mark Jenkins
?/? 2 10_ c.*4247G>A - r.? p.? Class 1 - g.48038246G>A - Schafmayer et al., 2007, {dbSNP6713506 MSH6_000374 - - Germline (inherited) - Michael Woods
?/? 2 10_ c.*5045T>C - r.? p.? Class 1 - g.48039044T>C - Schafmayer et al., 2007, {dbSNP2537742 MSH6_000375 - - Germline (inherited) - Michael Woods
?/? 1 10 c.*77_*78dup *77_78dupTT r.(=) p.(=) Class 3 - g.48034076_48034077dup - - MSH6_000741 - - Germline (inherited) - Ans van den Ouweland
-/?, ?/? 3 10 c.*85T>A c.*85T>A r.(=) p.(=) Class 3 - g.48034084T>A - Perez-Cabornero et al., 2009, {microatt:1000376, Steve Gallinger}, {microatt:1000580, Steve Gallinger} MSH6_000695 - - Germline (inherited) - Michael Woods, InSiGHT group
+/+ 1 1_2i c.-11863_457+1921del - r.? p.? Class 5 - g.47998510_48020183del - van der Klift et al., 2005 MSH6_000002 - 21.6 Kb deletion exon 1-2 Germline (inherited) - Carli Tops
?/+ 1 1 c.-13022_-1711del - r.? p.? Class 3 - g.47997351_48008662del - van der Klift et al., 2005 MSH6_000012 - - Germline (inherited) - Carli Tops
?/? 4 1 c.-159C>T - r.(=) p.(=) Class 1 - g.48010214C>T - Mrkonjic et al., 2007, Peterlongo et al., 2003 MSH6_000401 - - Germline (inherited) - Michael Woods
?/? 2 1 c.-18G>T - r.(=) p.(=) Class 3 - g.48010355G>T - Lamberti et al., 2006 MSH6_000006 - - Germline (inherited) - Carli Tops, Michael Woods
?/? 1 1 c.-210C>T - r.(=) p.(=) Class 1 - g.48010163C>T - Gazzoli et al., 2003 MSH6_000429 - Functional studies indicate Inactivation of splice1 site Germline (inherited) - Michael Woods
?/? 2 1_2i c.-3097_457+2010del - r.? p.? Class 5 - g.48007276_48020272del - Plaschke et al., 2003, Plaschke et al., 2004 MSH6_000003 - 13.0 Kb deletion promoter to exon 2 Germline (inherited) - Michael Woods
?/? 1 1 c.-448G>A - r.(=) p.(=) Class 1 - g.48009925G>A - Gazzoli et al., 2003 MSH6_000591 - 1 more item Germline (inherited) - Michael Woods
?/? 5 1 c.-557T>G -556G>T (rs3136228), -556G>T r.(=) p.(=) Class 1 - g.48009816T>G - Tulupova et al., 2008, Gazzoli et al., 2003, {dbSNP3136228 MSH6_000597 - - Germline (inherited) - Michael Woods
?/-? 1 1 c.-88G>A - r.(=) p.(=) Class 2 - g.48010285G>A - - MSH6_000792 - - Germline (inherited) - Hanno Roomere
?/? 1 1 c.-8C>T - r.(=) p.(=) Class 3 - g.48010365C>T - - MSH6_000770 - - Germline (inherited) - Bert Redeker
+/?, ?/? 2 4 c.1019T>C T>C at 1019, p.Phe340Ser r.1019u>c p.Phe340Ser Class 2 - g.48026141T>C - Plaschke et al., 2000, Thompson et al., 2013 MSH6_000139 - - Germline (inherited) - InSiGHT group, Mark Jenkins
?/? 1 4 c.1044C>A - r.(=) p.(=) Class 3 - g.48026166C>A - - MSH6_000317 - - Germline (inherited) - Carli Tops
?/? 1 4 c.1063G>A - r.(?) p.(Gly355Ser) - - g.48026185G>A - - MSH6_000900 - Noted MAPP/PP2.1 prior 0.0029, truncated to 0.10 Unknown - Ian Frayling
?/? 2 4 c.1079G>T - r.(?) p.(Ser360Ile) Class 3 - g.48026201G>T - Steinke et al., 2008 MSH6_000354 - - Germline (inherited) - Prof. Dr. med. Peter Propping, Michael Woods
?/? 2 4 c.1082G>A - r.(?) p.(Arg361His) Class 3 - g.48026204G>A - Koehler et al., 2007 MSH6_000377 - - Germline (inherited) - Michael Woods, Johan JP Gille
+/+ 1 4 c.1085del - r.(?) p.(Pro362Leufs*9) Class 5 - g.48026207del - Nilbert et al., 2008 MSH6_000378 - - Germline (inherited) - Michael Woods
?/? 1 1 c.108T>G T->G at 108 r.(=) p.(=) Class 3 - g.48010480T>G - Nicolaides et al., 1996 MSH6_000009 - - Germline (inherited) - InSiGHT group
?/? 1 - c.1094ˆ1095G>A p.Trp365X r.(?) p.(Trp365*) - - g.48026216ˆ48026217G>A - Maxwell et al., 2008 MSH6_000934 - identified in a glioblastoma multiforme tumour sample Somatic - Michael Woods
?/+ 1 4 c.1100A>G Exon 4 c.1100A>G p.His367Arg UCV r.(?) p.(His367Arg) Class 5 - g.48026222A>G - {microatt:1003183, Desiree du Sart} MSH6_000839 - - Germline (inherited) - InSiGHT group
+/+ 2 4 c.1101del Submitter described this as p.His367fs370X., Submitter described this as c.1188delT, p.367Hisfs370X. r.(?) p.(His367Glnfs*4) Class 5 - g.48026223del - - MSH6_000632 - - Germline (inherited) - Elke Holinski-Feder
?/? 2 4 c.1109T>C c.1109T>C r.(?) p.(Leu370Ser) Class 3 - g.48026231T>C - {microatt:1000581, Noralane Lindor and Steve Thibodeau} MSH6_000742 - - Germline (inherited) - Rolf Sijmons, InSiGHT group
?/? 1 4 c.1120_1122del Exon 4 c.1120_1122delAAG p.Lys374del UCV r.(?) p.(Lys374del) - - g.48026242_48026244del - {microatt:1003050, Desiree du Sart} MSH6_000825 - - Germline (inherited) - InSiGHT group
?/? 3 4 c.1133G>A - r.(?) p.(Arg378Lys) Class 3 - g.48026255G>A - Hendriks et al., 2004 MSH6_000318 - - Germline (inherited) - Carli Tops
?/+ 2 4 c.1135_1139del - r.(?) p.(Arg379*) Class 5 - g.48026257_48026261del - Kets et al., 2006, Overbeek et al., 2007 MSH6_000379 - - Germline (inherited) - Michael Woods
?/+, ?/? 7 4 c.1139_1143del Exon 4 c.1139_1143delATGAG p.Asp380Alafs*6, Exon 4, c.1139_1143delATGAG p.Asp380Alafs*6, 1 more item r.(?) p.(Asp380Alafs*6) Class 5 - g.48026261_48026265del - {microatt:1003135, Desiree du Sart}, {microatt:1003284, Desiree du Sart}, 4 more items MSH6_000319 - - Germline (inherited) - Carli Tops, InSiGHT group
?/? 1 4 c.1144C>T - r.(?) p.(His382Tyr) Class 3 - g.48026266C>T - - MSH6_000355 - - Germline (inherited) - Prof. Dr. med. Peter Propping
?/? 2 4 c.1153_1155del - r.(?) p.(Arg385del) Class 3 - g.48026275_48026277del - Roncari et al., 2007 MSH6_000380 - - Germline (inherited) - Michael Woods, Ans van den Ouweland
?/?, -/? 4 4 c.1164C>T C>T at 1164 r.(=) p.(=) Class 1 - g.48026286C>T - Kolodner et al., 1999, Sanchez de Abajo et al., 2005, Perez-Cabornero et al., 2009, 1 more item MSH6_000110 - - Germline (inherited) - InSiGHT group, Michael Woods, Mark Jenkins
?/?, -/?, ?/- 50 1 c.116G>A c.116G>A, Het c.116G>A (p.G39E)., c.3150_3162dup hetero; c.116G>A hetero; c.2633T>C hetero, 5 more items r.(?), r.116g>a p.(Gly39Glu), p.Gly39Glu Class 1 - g.48010488G>A - Hirata et al., 2008, Campbell et al., 2008, Smith et al., 2008, {dbSNP1042821, Maxwell et al., 2008, 28 more items MSH6_000915 - associated with colon cancer risk in men, no significant association with breast cancer risk, 3 more items Germline (inherited), Somatic - Michael Woods, Felipe Silva, InSiGHT group, Prof. Dr. med. Peter Propping
?/? 1 4 c.1170T>C - r.(=) p.(=) - - g.48026292T>C - Furihata et al., 2000 MSH6_000381 - - Somatic - Michael Woods
?/?, -/? 26 4 c.1186C>G c.1186C>G, L396V, C>G at 1286, V396L (rs2020908), c.1185C>G., p.Leu396Val, 3 more items r.(?), r.1186c>g p.(Leu396Val), p.Leu396Val Class 1 - g.48026308C>G - Drost et al. Hum Mutat 2012 33: 488-494., Steinke et al., 2008, Wijnen et al., 1999, Parc et al., 2000, 14 more items MSH6_000118 - {GR:46}, together with MUTYH mutation, 1 more item Unknown, Germline (inherited), In vitro (cloned) - InSiGHT group, Michael Woods, Juul Wijnen, Prof. Dr. med. Peter Propping, Rolf Sijmons, Felipe Silva, Mark Jenkins
?/? 1 4 c.1190A>G - r.(?) p.(Tyr397Cys) - - g.48026312A>G - Furihata et al., 2000 MSH6_000383 - - Somatic - Michael Woods
?/+, +/+ 4 4 c.1190_1191del Submitter described this as p.Tyr397fsX. r.(?) p.(Tyr397Cysfs*3) Class 5 - g.48026312_48026313del - Plaschke et al., 2004, Plaschke et al., 2004, Steinke et al., 2008 MSH6_000382 - - Germline (inherited) - Michael Woods, Elke Holinski-Feder
?/? 1 4 c.1193T>A p.Val398Glu r.(?) p.(Val398Glu) Class 5 - g.48026315T>A - Thompson et al., 2013 MSH6_000784 - - Germline (inherited) - Mark Jenkins
?/? 1 1 c.124C>T p.Pro42Leu r.(?) p.(Pro42Ser) Class 3 - g.48010496C>T - - MSH6_000727 - - Germline (inherited) - Felipe Silva
?/? 1 4 c.1257G>A - r.(=) p.(=) Class 3 - g.48026379G>A - Woods et al., 2005 MSH6_000384 - - Germline (inherited) - Michael Woods
?/? 2 4 c.1272C>G C>G at 1273, 1273C>G (polymorphism) r.(=) p.(=) Class 3 - g.48026394C>G - Kolodner et al., 1999 MSH6_000345 - - Germline (inherited) - InSiGHT group, Michael Woods
?/? 1 4 c.1273A>G - r.1273a>g p.Ile425Val Class 3 - g.48026395A>G - Casey et al., 2005 MSH6_000386 - - Germline (inherited) - Michael Woods
?/+ 1 4 c.1276del - r.(?) p.(Cys426Valfs*27) Class 5 - g.48026398del - Hendriks et al., 2004 MSH6_000320 - - Germline (inherited) - Carli Tops
?/? 1 4 c.1294_1296delinsGCA - r.(?) p.(Phe432Ala) - - g.48026416_48026418delinsGCA - Dufner et al., 2000 MSH6_000387 - results from site-directed mutagenesis In vitro (cloned) - Michael Woods
+?/+ 1 4 c.1299T>A - r.(?) p.(Tyr433*) Class 5 - g.48026421T>A - Julie et al., 2008 MSH6_000388 - - Germline (inherited) - Michael Woods
?/? 1 4 c.1304T>C p.(Leu435Pro) r.628_3172del p.? Class 3 - g.48026426T>C - Hampel et al., 2006,Hampel et al., 2007,Kantelinen et al., 2012 MSH6_000389 - - Germline (inherited) - Michael Woods
?/? 1 4 c.1325T>C - r.(?) p.(Ile442Thr) Class 3 - g.48026447T>C - - MSH6_000635 - - Germline (inherited) - Elke Holinski-Feder
?/? 1 4 c.1338A>T - r.(?) p.(Glu446Asp) Class 3 - g.48026460A>T - - MSH6_000728 - - Germline (inherited) - Felipe Silva
?/?, +/? 2 4 c.1346T>C - r.(?) p.(Leu449Pro) Class 5 - g.48026468T>C - Cederquist et al., 2004, Cederquist et al., 2005 MSH6_000390 - - Germline (inherited) - Michael Woods
?/? 1 4 c.1369G>C - r.(?) p.(Ala457Pro) Class 3 - g.48026491G>C - Nilbert et al., 2008,Klarskov et al., 2011,Okkels et al., 2012 MSH6_000391 - - Germline (inherited) - Michael Woods
?/? 1 4 c.1402C>T - r.(?) p.(Arg468Cys) Class 3 - g.48026524C>T - - MSH6_000636 - - Germline (inherited) - Elke Holinski-Feder
?/?, -/?, +?/? 7 4 c.1403G>A R468H, c.1403G>A r.(?) p.(Arg468His) Class 2 - g.48026525G>A - Barnetson et al., 2008, Yan et al., 2007, Yan et al., 2007 MSH6_000065 - {GR:324}, 0/1008 controls, did not occur in the 137 healthy controls In silico, Germline (inherited), Unknown - Rolf Sijmons, Michael Woods, John Paul Plazzer
?/+, +/+ 5 4 c.1421_1422dup 1510insTG stop at aa482, c.1422_1423insTG, C475fsX480, 1422_1423insTG p.Q475fsX481, 1 more item r.(?) p.(Gln475Cysfs*7) Class 5 - g.48026543_48026544dup - Plaschke et al., 2002,Steinke et al., 2008, Steinke et al., 2008, Kunstmann et al., 2004, 1 more item MSH6_000392 - paper uses the start of the 5' UTR and not the ATG as the reference Germline (inherited) - Michael Woods, Elke Holinski-Feder
?/+, +/+ 4 4 c.1444C>T - r.(?) p.(Arg482*) Class 5 - g.48026566C>T - Hendriks et al., 2004, Nilbert et al., 2008 MSH6_000066 - - Germline (inherited) - Carli Tops, Michael Woods
?/+ 2 4 c.1453C>T - r.(?) p.(Gln485*) - - g.48026575C>T - Hunter et al., 2006, Cahill et al., 2007 MSH6_000395 - somatic Somatic - Michael Woods
?/? 5 4 c.1474A>G M492V, c.1474A>G r.(?) p.(Met492Val) Class 3 - g.48026596A>G - Wagner et al., 2003, Nilbert et al., 2008,Okkels et al., 2012, 1 more item MSH6_000135 - 1 more item Germline (inherited), Unknown - Juul Wijnen, Michael Woods, Dana Falcone, InSiGHT group
?/+ 1 4 c.1477G>T - r.(?) p.(Glu493*) Class 5 - g.48026599G>T - Yan et al., 2007 MSH6_000396 - - Germline (inherited) - Michael Woods
?/+ 1 4 c.1483C>T - r.(?) p.(Arg495*) Class 5 - g.48026605C>T - - MSH6_000321 - - Germline (inherited) - Carli Tops
?/?, -/?, +/? 18 4 c.1508C>G C>G at 1508, S503C, c.1508C>G r.(?) p.(Ser503Cys) Class 2 - g.48026630C>G - Wijnen et al., 1999, Barnetson et al., 2008, Kim et al., 2004, Devlin et al., 2008, 4 more items MSH6_000149 - {GR:325}, identified in both a HNPCC and endometrial cancer cohort, controls, 1 more item Germline (inherited), In silico, Unknown - Carli Tops, InSiGHT group, Rolf Sijmons, Michael Woods, Elke Holinski-Feder
?/? 6 4 c.1526T>C - r.(?) p.(Val509Ala) Class 2 - g.48026648T>C - Furihata et al., 2000, Peterlongo et al., 2003, Hegde et al., 2005, Dovrat et al., 2005, 1 more item MSH6_000397 - - Somatic, Germline (inherited) - Michael Woods, Amie Blanco
?/? 1 4 c.1531A>G c.1531A>G r.(?) p.(Arg511Gly) - - g.48026653A>G - 1 more item MSH6_000820 - Occur in two patients in a family, both with MSH6 deficient tumour Germline (inherited) - InSiGHT group
?/? 1 4 c.1547T>A - r.(?) p.(Ile516Asn) Class 3 - g.48026669T>A - - MSH6_000638 - - Germline (inherited) - Elke Holinski-Feder
?/? 5 4 c.1565A>G c.1565A>G r.(?) p.(Gln522Arg) Class 3 - g.48026687A>G - Berends et al., 2002, Domingo et al., 2005, Drost et al. Hum Mutat 2012 33: 488-494. MSH6_000398 - somatic, 1 more item Germline (inherited), Unknown - Michael Woods, Rolf Sijmons, InSiGHT group
?/? 1 4 c.1569T>G - r.(=) p.(=) Class 3 - g.48026691T>G - - MSH6_000322 - - Germline (inherited) - Carli Tops
?/+ 1 4 c.1571dup Exon 4 c.1571insA p.Tyr524* r.(?) p.(Tyr524*) Class 5 - g.48026693dup - {microatt:1003087, Desiree du Sart} MSH6_000086 - - Germline (inherited) - InSiGHT group
+/+ 1 4 c.1572C>G 1572 C>G r.(?) p.(Tyr524*) Class 5 - g.48026694C>G - Suchy et al., (unpublished) 2006 MSH6_000346 - - Germline (inherited) - InSiGHT group
+/+ 1 4 c.1575_1578dup c.1578insTGTG r.(?) p.(Leu527Cysfs*5) - - g.48026697_48026700dup - - MSH6_000898 - - Germline (inherited) - José Luis Soto
?/+ 1 4 c.1580del - r.(?) p.(Leu527Argfs*44) Class 5 - g.48026702del - Irmejs et al., 2007 MSH6_000399 - - Germline (inherited) - Michael Woods
+/+ 3 4 c.1590del Submitter described this as p.fsX., Submitter described this as p.fsX r.(?) p.(Ser532Leufs*39) Class 5 - g.48026712del - - MSH6_000639 - - Germline (inherited) - Elke Holinski-Feder
?/? 1 4 c.1594T>G p.Ser532Ala r.1594u>g p.Ser532Ala - - g.48026716T>G - Maxwell et al., 2008 MSH6_000944 - identified in a glioblastoma multiforme tumour sample Somatic - Michael Woods
+/+ 1 4 c.1596dup - r.(?) p.(Glu533*) Class 5 - g.48026718dup - Auclair et al., 2007,Bonadona et al., 2011 MSH6_000400 - - Germline (inherited) - Michael Woods
+/+ 1 4 c.1602del del C at 1602 r.(?) p.(Tyr535Thrfs*36) - - g.48026724del - Miyaki et al., 1997 MSH6_000090 - - Somatic - InSiGHT group
+/+ 1 4 c.1614_1615delinsAG - r.(?) p.(Tyr538*) Class 5 - g.48026736_48026737delinsAG - Ramsoekh et al., 2008 MSH6_000403 - - Germline (inherited) - Michael Woods
?/+ 2 4 c.1614_1615delinsG c.1614_1615delTCinsG r.(?) p.(Tyr538*) Class 5 - g.48026736_48026737delinsG - Hendriks et al., 2004, Hendriks et al., 2004,Ramsoekh et al., 2008 MSH6_000166 - - Germline (inherited) - Carli Tops, Michael Woods
?/? 1 1 c.161G>C - r.(?) p.(Gly54Ala) Class 2 - g.48010533G>C - Peterlongo et al., 2003 MSH6_000404 - somatic Germline (inherited) - Michael Woods
?/+, ?/? 6 4 c.1628_1629del c.1628_1629del, Exon 4 c.1628_1629delAA p.Lys543Argfs*19, c.1628_1629delAA r.(?) p.(Lys543Argfs*19) Class 5 - g.48026750_48026751del - {microatt:1000367, Mark Jenkins; John Hopper}, {microatt:1000582, Mark Jenkins; John Hopper}, 3 more items MSH6_000017 - - Germline (inherited) - Carli Tops, InSiGHT group
?/+, +/+ 3 4 c.1632_1635del p.Lys545ArgfsX26 r.(?) p.(Lys545Argfs*25) Class 5 - g.48026754_48026757del - Plaschke et al., 2004, Plaschke et al., 2004, Steinke et al., 2008 MSH6_000405 - - Germline (inherited) - Michael Woods
?/+ 1 4 c.1634_1637del - r.(?) p.(Lys545Argfs*25) Class 5 - g.48026756_48026759del - Arnold et al., 2007 MSH6_000406 - - Germline (inherited) - Michael Woods
+/? 1 4 c.1636G>C G>C at 1636 r.(?) p.(Glu546Gln) Class 3 - g.48026758G>C - Miyaki et al., 1997 MSH6_000100 - - Germline (inherited) - InSiGHT group
+/+ 1 4 c.1637_1638del - r.(?) p.(Glu546Glyfs*16) Class 5 - g.48026759_48026760del - Hampel et al., 2006 MSH6_000407 - - Germline (inherited) - Michael Woods
?/? 2 4 c.1667A>T - r.(?) p.(Tyr556Phe) Class 2 - g.48026789A>T - Wijnen et al., 1999 MSH6_000167 - - Germline (inherited) - Juul Wijnen, InSiGHT group
?/? 2 4 c.1669G>A - r.(?) p.(Gly557Ser) - - g.48026791G>A - - MSH6_000888 - - Unknown - sira moreno
+/? 1 4 c.1676G>A 1676 G>A r.(?) p.(Cys559Tyr) Class 3 - g.48026798G>A - Suchy et al., 2006 MSH6_000081 - - Germline (inherited) - InSiGHT group
?/? 1 4 c.1677C>T - r.(=) p.(=) Class 3 - g.48026799C>T - Sanchez de Abajo et al., 2005 MSH6_000408 - - Germline (inherited) - Michael Woods
+/?, ?/? 3 4 c.1696G>A G>A at 1696, p.Gly566Arg r.(?) p.(Gly566Arg) Class 3 - g.48026818G>A - Kolodner et al., 1999, Cyr and Heinen 2008, Kariola et al., 2002 MSH6_000106 - 1 more item Germline (inherited), In vitro (cloned) - InSiGHT group, Michael Woods
?/? 1 4 c.1720T>A Exon 4, c.1720T>A p.Ser574Thr UCV r.(?) p.(Ser574Thr) - - g.48026842T>A - {microatt:1003285, Desiree du Sart} MSH6_000852 - - Germline (inherited) - InSiGHT group
?/? 1 4 c.1723G>T - r.(?) p.(Asp575Tyr) - - g.48026845G>T - Chadwick et al., 2001 MSH6_000409 - both somatic Somatic - Michael Woods
?/? 1 4 c.1729C>T - r.(?) p.(Arg577Cys) Class 3 - g.48026851C>T - - MSH6_000777 - - Germline (inherited) - Amie Blanco
-/?, ?/?, +/? 5 4 c.1739C>T S580L r.(?) p.(Ser580Leu) Class 3 - g.48026861C>T - Barnetson et al., 2008, Devlin et al., 2008 MSH6_000151 - {GR:326}, 0/1008 controls In silico, Germline (inherited) - Rolf Sijmons, Michael Woods
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