Full data view for gene MSH6

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

2297 entries on 23 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

InSiGHT Class     

Splicing/transcript expression     

Allele     

DNA change (genomic) (hg19)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Date     

Template     

Technique     

Tissue     

Method     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Remarks     

Family History     

Pedigree information available     

Selection criteria for proband testing     

Panel size     

Owner     
?/? 1i_2i c.(260+1_261-1)_(457+1_458-1)dup 265-?_457+?dup (duplication exon 2) r.? p.? Class 3 - Unknown g.(48010633_48018065)_(48018263_48023032)dup - Kets et al., 2006 MSH6_000454 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20755; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1i_2i c.(260+1_261-1)_(457+1_458-1)dup - r.? p.? Class 3 - Unknown g.(48010633_48018065)_(48018263_48023032)dup - Overbeek et al., 2007 MSH6_000454 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20756; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 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) - - Unknown g.(48028295_48030558)_(48032167_48032756)del - {microatt:1003329, Desiree du Sart} MSH6_000856 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1016454; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 InSiGHT group
+/+ 6i_10_ c.(3556+1_3557-1)_(*93_?)del - r.? p.? Class 5 - Unknown g.(48032167_48032756)_(48034092_?)del - - MSH6_000363 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:11589; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Prof. Dr. med. Peter Propping
?/+ 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 - Unknown g.(48018263_48023032)_(48032167_48032756)del - {microatt:1003099, Desiree du Sart} MSH6_000831 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1016226; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 InSiGHT group
?/+ 2i_3i c.(457+1_458-1)_(627+1_628-1)del - r.(?) p.(Ser154Argfs*8) Class 5 - Unknown g.(48018263_48023032)_(48023203_48025749)del - - MSH6_000336 - - Germline (inherited) - - DNA Southern, MLPA, PCR - - ? - ? NL - InSiGHT LOVDv2 ID:9969; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Carli Tops
?/? 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 - Unknown g.(48018263_48023032)_(48023203_48025749)del - {microatt:1003064, Desiree du Sart} MSH6_000336 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1016191; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 InSiGHT group
+/? _1_3i c.(?_-1)_(645+1_646-1)del c.1?_645+?del r.? p.0? - - Unknown g.? - - MSH6_000893 - Submitter has reported the nomenclature for deletion of MSH2 exon 1 to 3 not MSH6 Germline (inherited) - - DNA MLPA - - cancer, endometrial - F ES - InSiGHT LOVDv2 ID:1017142; This data has been transferred from InSiGHT LOVDv2 database. B+; - - 1 José Luis Soto
?/? _1_10_ c.(?_-152)_(*93_?)del del MSH2 ex1_16, delTACSTD1-15,-27, del MSH6 r.? p.? Class 5 - Unknown g.(?_48010221)_(48034092)del - - MSH6_000911 - - Germline (inherited) - - DNA MLPA, MAPH - - ? - ? NL - child, mental retardation;InSiGHT LOVDv2 ID:10396; - - - 1 Carli Tops
?/+ _1_10_ c.(?_-152)_(*93_?)del - r.? p.? Class 5 - Unknown g.(?_48010221)_(48034092)del - Nilbert et al., 2008 MSH6_000911 - deletion entire gene Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20720; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
+?/+ _1_10_ c.(?_-152)_(*93_?)del - r.? p.? Class 5 - Unknown g.(?_48010221)_(48034092)del - - MSH6_000911 - - Germline (inherited) - - DNA IHC, MLPA - - cancer, endometrial - F - - InSiGHT LOVDv2 ID:1008502; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Amanda Spurdle
?/+ _1_2i c.(?_-152)_(457+1_458-1)del c.1-?_475+?del r.? p.? Class 5 - Unknown g.(?_48010221)_(48018263_48023032)del - Kets et al., 2006 MSH6_000001 - deletion of exon 1-2 Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20721; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/+ _1_2i c.(?_-152)_(457+1_458-1)del - r.? p.? Class 5 - Unknown g.(?_48010221)_(48018263_48023032)del - Overbeek et al., 2007 MSH6_000001 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20722; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/+ _1_2i c.(?_-152)_(457+1_458-1)del c.1-?_457+?del r.? p.? Class 5 - Unknown g.(?_48010221)_(48018263_48023032)del - {microatt:1002595, Carli Tops} MSH6_000001 - deletion of 21.6 kb around exon 1+2, in cis with c.2008G>A,p.Gly670Arg Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1015828; This data has been transferred from InSiGHT LOVDv2 database. Bethesda; - - 1 InSiGHT group
?/+ _1_2i c.(?_-152)_(457+1_458-1)del MSH6:c.(?_-152)_457+?del breakpoint not tested r.? p.? Class 5 - Unknown g.(?_48010221)_(48018263_48023032)del - {microatt:1003589, Daniela Barana} MSH6_000001 - - Germline (inherited) - - DNA SEQ - - CRC - M - - InSiGHT LOVDv2 ID:1016649; This data has been transferred from InSiGHT LOVDv2 database. Bethesda ; - - 1 InSiGHT group
?/? 4 c.(?_904)_(1144_?)del - r.? p.? - - Unknown 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 - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:21152; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 10 c.*185T>G insT in IVS7+4 r.? p.? - - Unknown g.48034184T>G - Chaksangchaichot et al., 2007 MSH6_000373 - - Somatic - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:21308; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 10 c.*24_*28del - r.(=) p.(=) Class 3 - Unknown g.48034023_48034027del - Thompson et al., 2013 MSH6_000787 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1013025; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Mark Jenkins
?/? 10_ c.*4247G>A - r.? p.? Class 1 - Unknown g.48038246G>A - Schafmayer et al., 2007 MSH6_000374 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:21309; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 10_ c.*4247G>A - r.? p.? Class 1 - Unknown g.48038246G>A - {dbSNP6713506 MSH6_000374 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:21525; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 10_ c.*5045T>C - r.? p.? Class 1 - Unknown g.48039044T>C - Schafmayer et al., 2007 MSH6_000375 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:21310; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 10_ c.*5045T>C - r.? p.? Class 1 - Unknown g.48039044T>C - {dbSNP2537742 MSH6_000375 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:21525; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 10 c.*77_*78dup *77_78dupTT r.(=) p.(=) Class 3 - Unknown g.48034076_48034077dup - - MSH6_000741 - - Germline (inherited) - - DNA SEQ - - CRC - - Netherlands - InSiGHT LOVDv2 ID:41007; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Ans van den Ouweland
-/? 10 c.*85T>A - r.(=) p.(=) Class 3 - Unknown g.48034084T>A - Perez-Cabornero et al., 2009 MSH6_000695 - - Germline (inherited) - - DNA HD, SEQ - - ? - - ES - InSiGHT LOVDv2 ID:1008378; This data has been transferred from InSiGHT LOVDv2 database. A+; - - 1 Michael Woods
?/? 10 c.*85T>A c.*85T>A r.(=) p.(=) Class 3 - Unknown g.48034084T>A - {microatt:1000376, Steve Gallinger} MSH6_000695 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1013610; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 InSiGHT group
?/? 10 c.*85T>A c.*85T>A r.(=) p.(=) Class 3 - Unknown g.48034084T>A - {microatt:1000580, Steve Gallinger} MSH6_000695 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1013813; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 InSiGHT group
+/+ 1_2i c.-11863_457+1921del - r.? p.? Class 5 - Parent #1 g.47998510_48020183del - van der Klift et al., 2005 MSH6_000002 - 21.6 Kb deletion exon 1-2 Germline (inherited) - - DNA SEQ - - ? van der,Klift H. et al, 2005 ? NL - InSiGHT LOVDv2 ID:351; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Carli Tops
?/+ 1 c.-13022_-1711del - r.? p.? Class 3 - Unknown g.47997351_48008662del - van der Klift et al., 2005 MSH6_000012 - - Germline (inherited) - - DNA Southern, PCR - - ? van der Klift, H.et al. 2005 ? NL - InSiGHT LOVDv2 ID:9961; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Carli Tops
?/? 1 c.-159C>T - r.(=) p.(=) Class 1 - Parent #2 g.48010214C>T - Mrkonjic et al., 2007 MSH6_000401 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:131; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1 c.-159C>T - r.(=) p.(=) Class 1 - Parent #1 g.48010214C>T - Mrkonjic et al., 2007 MSH6_000401 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:131; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1 c.-159C>T - r.(=) p.(=) Class 1 - Unknown g.48010214C>T - Peterlongo et al., 2003 MSH6_000401 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20708; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1 c.-159C>T - r.(=) p.(=) Class 1 - Unknown g.48010214C>T - Mrkonjic et al., 2007 MSH6_000401 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20709; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1 c.-18G>T - r.(=) p.(=) Class 3 - Unknown g.48010355G>T - - MSH6_000006 - - Germline (inherited) - - DNA SEQ - - ? - ? NL - InSiGHT LOVDv2 ID:9985; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Carli Tops
?/? 1 c.-18G>T - r.(=) p.(=) Class 3 - Unknown g.48010355G>T - Lamberti et al., 2006 MSH6_000006 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20710; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1 c.-210C>T - r.(=) p.(=) Class 1 - Unknown g.48010163C>T - Gazzoli et al., 2003 MSH6_000429 - Functional studies indicate Inactivation of splice1 site Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20711; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1_2i c.-3097_457+2010del - r.? p.? Class 5 - Unknown g.48007276_48020272del - Plaschke et al., 2003 MSH6_000003 - 13.0 Kb deletion promoter to exon 2 Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20706; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1_2i c.-3097_457+2010del - r.? p.? Class 5 - Unknown g.48007276_48020272del - Plaschke et al., 2004 MSH6_000003 - 13.0 Kb deletion promoter to exon 2 Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20707; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1 c.-448G>A - r.(=) p.(=) Class 1 - Unknown g.48009925G>A - Gazzoli et al., 2003 MSH6_000591 - Functional studies indicate Inactivation of two splice1 sites; Authors describe this as a polymorphism Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20712; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1 c.-557T>G -556G>T (rs3136228) r.(=) p.(=) Class 1 - Parent #2 g.48009816T>G - Tulupova et al., 2008 MSH6_000597 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:52; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1 c.-557T>G -556G>T (rs3136228) r.(=) p.(=) Class 1 - Parent #1 g.48009816T>G - Tulupova et al., 2008 MSH6_000597 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:52; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1 c.-557T>G -556G>T r.(=) p.(=) Class 1 - Unknown g.48009816T>G - Gazzoli et al., 2003 MSH6_000597 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20713; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1 c.-557T>G -556G>T (rs3136228) r.(=) p.(=) Class 1 - Unknown g.48009816T>G - Tulupova et al., 2008 MSH6_000597 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20714; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1 c.-557T>G - r.(=) p.(=) Class 1 - Unknown g.48009816T>G - {dbSNP3136228 MSH6_000597 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:21525; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/-? 1 c.-88G>A - r.(=) p.(=) Class 2 - Unknown g.48010285G>A - - MSH6_000792 - - Germline (inherited) - - DNA SEQ - - CRC - F EE - InSiGHT LOVDv2 ID:1013060; This data has been transferred from InSiGHT LOVDv2 database. B+; - Call (screening) 1 Hanno Roomere
?/? 1 c.-8C>T - r.(=) p.(=) Class 3 - Unknown g.48010365C>T - - MSH6_000770 - - Germline (inherited) - - DNA DHPLC, SEQ - - CRC - - Netherlands - InSiGHT LOVDv2 ID:41123; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Bert Redeker
+/? 4 c.1019T>C T>C at 1019 r.1019u>c p.Phe340Ser Class 2 - Parent #1 g.48026141T>C - Plaschke et al., 2000 MSH6_000139 - - Germline (inherited) - - DNA SEQ - - ? Plaschke et al, 2000 ? DE - InSiGHT LOVDv2 ID:11618; This data has been transferred from InSiGHT LOVDv2 database. A?; - - 1 InSiGHT group
?/? 4 c.1019T>C p.Phe340Ser r.1019u>c p.Phe340Ser Class 2 - Unknown g.48026141T>C - Thompson et al., 2013 MSH6_000139 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1013020; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Mark Jenkins
?/? 4 c.1044C>A - r.(=) p.(=) Class 3 - Unknown g.48026166C>A - - MSH6_000317 - - Germline (inherited) - - DNA SEQ - - ? - ? NL - InSiGHT LOVDv2 ID:9962; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Carli Tops
?/? 4 c.1063G>A - r.(?) p.(Gly355Ser) - - Unknown g.48026185G>A - - MSH6_000900 - Noted MAPP/PP2.1 prior 0.0029, truncated to 0.10 Unknown - - DNA SEQ - - cancer, bladder - M UK - InSiGHT LOVDv2 ID:1017163; This data has been transferred from InSiGHT LOVDv2 database. AII+; - - 1 Ian Frayling
?/? 4 c.1079G>T - r.(?) p.(Ser360Ile) Class 3 - Unknown g.48026201G>T - - MSH6_000354 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:11220; - - - 1 Prof. Dr. med. Peter Propping
?/? 4 c.1079G>T - r.(?) p.(Ser360Ile) Class 3 - Unknown g.48026201G>T - Steinke et al., 2008 MSH6_000354 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20817; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 4 c.1082G>A - r.(?) p.(Arg361His) Class 3 - Unknown g.48026204G>A - Koehler et al., 2007 MSH6_000377 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20818; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 4 c.1082G>A - r.(?) p.(Arg361His) Class 3 - Unknown g.48026204G>A - - MSH6_000377 - - Germline (inherited) - - DNA DHPLC, SEQ - - CRC - - Netherlands - InSiGHT LOVDv2 ID:41013; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Johan JP Gille
+/+ 4 c.1085del - r.(?) p.(Pro362Leufs*9) Class 5 - Unknown g.48026207del - Nilbert et al., 2008 MSH6_000378 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20819; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1 c.108T>G T->G at 108 r.(=) p.(=) Class 3 - Parent #1 g.48010480T>G - Nicolaides et al., 1996 MSH6_000009 - - Germline (inherited) - - DNA SEQ - - ? Nicolaides et al, 1996 ? - - InSiGHT LOVDv2 ID:11619; This data has been transferred from InSiGHT LOVDv2 database. A?; - - 1 InSiGHT group
?/? - c.1094ˆ1095G>A p.Trp365X r.(?) p.(Trp365*) - - Unknown g.48026216ˆ48026217G>A - Maxwell et al., 2008 MSH6_000934 - identified in a glioblastoma multiforme tumour sample Somatic - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20816; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/+ 4 c.1100A>G Exon 4 c.1100A>G p.His367Arg UCV r.(?) p.(His367Arg) Class 5 - Unknown g.48026222A>G - {microatt:1003183, Desiree du Sart} MSH6_000839 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1016310; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 InSiGHT group
+/+ 4 c.1101del Submitter described this as p.His367fs370X. r.(?) p.(His367Glnfs*4) Class 5 - Unknown g.48026223del - - MSH6_000632 - - Germline (inherited) - - DNA SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:1008226; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Elke Holinski-Feder
+/+ 4 c.1101del Submitter described this as c.1188delT, p.367Hisfs370X. r.(?) p.(His367Glnfs*4) Class 5 - Unknown g.48026223del - - MSH6_000632 - - Germline (inherited) - - DNA SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:1008227; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Elke Holinski-Feder
?/? 4 c.1109T>C - r.(?) p.(Leu370Ser) Class 3 - Unknown g.48026231T>C - - MSH6_000742 - - Germline (inherited) - - DNA DGGE, SEQ - - CRC - - Netherlands - InSiGHT LOVDv2 ID:41014; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Rolf Sijmons
?/? 4 c.1109T>C c.1109T>C r.(?) p.(Leu370Ser) Class 3 - Unknown g.48026231T>C - {microatt:1000581, Noralane Lindor and Steve Thibodeau} MSH6_000742 - - Germline (inherited) - - DNA SEQ - - CRC - - - - InSiGHT LOVDv2 ID:1013814; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 InSiGHT group
?/? 4 c.1120_1122del Exon 4 c.1120_1122delAAG p.Lys374del UCV r.(?) p.(Lys374del) - - Unknown g.48026242_48026244del - {microatt:1003050, Desiree du Sart} MSH6_000825 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1016177; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 InSiGHT group
?/? 4 c.1133G>A - r.(?) p.(Arg378Lys) Class 3 - Parent #1 g.48026255G>A - Hendriks et al., 2004 MSH6_000318 - - Germline (inherited) - - DNA SEQ - - ? Hendriks,Y.M. et al, 2004 ? NL - InSiGHT LOVDv2 ID:480; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Carli Tops
?/? 4 c.1133G>A - r.(?) p.(Arg378Lys) Class 3 - Parent #1 g.48026255G>A - - MSH6_000318 - - Germline (inherited) - - DNA SEQ - - ? - ? NL - InSiGHT LOVDv2 ID:9959; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Carli Tops
?/? 4 c.1133G>A - r.(?) p.(Arg378Lys) Class 3 - Parent #1 g.48026255G>A - - MSH6_000318 - - Germline (inherited) - - DNA SEQ - - ? - ? NL - InSiGHT LOVDv2 ID:9960; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Carli Tops
?/+ 4 c.1135_1139del - r.(?) p.(Arg379*) Class 5 - Unknown g.48026257_48026261del - Kets et al., 2006 MSH6_000379 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20820; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/+ 4 c.1135_1139del - r.(?) p.(Arg379*) Class 5 - Unknown g.48026257_48026261del - Overbeek et al., 2007 MSH6_000379 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20821; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/+ 4 c.1139_1143del - r.(?) p.(Asp380Alafs*6) Class 5 - Unknown g.48026261_48026265del - - MSH6_000319 - - Germline (inherited) - - DNA SEQ - - ? - ? NL - InSiGHT LOVDv2 ID:9963; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Carli Tops
?/? 4 c.1139_1143del Exon 4 c.1139_1143delATGAG p.Asp380Alafs*6 r.(?) p.(Asp380Alafs*6) Class 5 - Unknown g.48026261_48026265del - {microatt:1003135, Desiree du Sart} MSH6_000319 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1016262; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 InSiGHT group
?/? 4 c.1139_1143del Exon 4, c.1139_1143delATGAG p.Asp380Alafs*6 r.(?) p.(Asp380Alafs*6) Class 5 - Unknown g.48026261_48026265del - {microatt:1003284, Desiree du Sart} MSH6_000319 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1016409; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 InSiGHT group
?/? 4 c.1139_1143del c.1139_1143delATGAG r.(?) p.(Asp380Alafs*6) Class 5 - Unknown g.48026261_48026265del - {microatt:1003547, Carli Tops} MSH6_000319 - - Germline (inherited) - - DNA SEQ - - cancer, ovarian - - - - InSiGHT LOVDv2 ID:1016929; This data has been transferred from InSiGHT LOVDv2 database. AMS2 - - 1 InSiGHT group
?/? 4 c.1139_1143del c.1139_1143delATGAG r.(?) p.(Asp380Alafs*6) Class 5 - Unknown g.48026261_48026265del - {microatt:1003548, Carli Tops} MSH6_000319 - - Germline (inherited) - - DNA SEQ - - cancer, endometrial - - - - InSiGHT LOVDv2 ID:1016930; This data has been transferred from InSiGHT LOVDv2 database. Uterus49 - - 1 InSiGHT group
?/? 4 c.1139_1143del c.1139_1143delATGAG r.(?) p.(Asp380Alafs*6) Class 5 - Unknown g.48026261_48026265del - {microatt:1003549, Carli Tops} MSH6_000319 - - Germline (inherited) - - DNA SEQ - - cancer, endometrial - - - - InSiGHT LOVDv2 ID:1016931; This data has been transferred from InSiGHT LOVDv2 database. Endomet56 - - 1 InSiGHT group
?/? 4 c.1139_1143del c.1139_1143delATGAG r.(?) p.(Asp380Alafs*6) Class 5 - Unknown g.48026261_48026265del - {microatt:1003550, Carli Tops} MSH6_000319 - - Germline (inherited) - - DNA SEQ - - cancer, endometrial - - - - InSiGHT LOVDv2 ID:1016932; This data has been transferred from InSiGHT LOVDv2 database. Endomet56 - - 1 InSiGHT group
?/? 4 c.1144C>T - r.(?) p.(His382Tyr) Class 3 - Unknown g.48026266C>T - - MSH6_000355 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:11252; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Prof. Dr. med. Peter Propping
?/? 4 c.1153_1155del - r.(?) p.(Arg385del) Class 3 - Unknown g.48026275_48026277del - Roncari et al., 2007 MSH6_000380 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20822; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 4 c.1153_1155del - r.(?) p.(Arg385del) Class 3 - Unknown g.48026275_48026277del - - MSH6_000380 - - Germline (inherited) - - DNA SEQ - - CRC - - Netherlands - InSiGHT LOVDv2 ID:41016; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Ans van den Ouweland
?/? 4 c.1164C>T C>T at 1164 r.(=) p.(=) Class 1 - Parent #1 g.48026286C>T - Kolodner et al., 1999 MSH6_000110 - - Germline (inherited) - - DNA SEQ - - CRC Kolodner et al, 1999 ? - - InSiGHT LOVDv2 ID:11620; This data has been transferred from InSiGHT LOVDv2 database. A?; - - 1 InSiGHT group
?/? 4 c.1164C>T - r.(=) p.(=) Class 1 - Unknown g.48026286C>T - Sanchez de Abajo et al., 2005 MSH6_000110 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20823; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
-/? 4 c.1164C>T - r.(=) p.(=) Class 1 - Unknown g.48026286C>T - Perez-Cabornero et al., 2009 MSH6_000110 - - Germline (inherited) - - DNA HD, SEQ - - ? - - ES - InSiGHT LOVDv2 ID:1008371; This data has been transferred from InSiGHT LOVDv2 database. A+; - - 1 Michael Woods
?/? 4 c.1164C>T - r.(=) p.(=) Class 1 - Unknown g.48026286C>T - Thompson et al., 2013 MSH6_000110 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1013002; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Mark Jenkins
?/? 1 c.116G>A p.Gly39Glu r.(?) p.(Gly39Glu) Class 1 - Unknown g.48010488G>A - Zidan et al., 2007 MSH6_000915 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:100; - - - 1 Michael Woods
?/? 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 - Parent #2 g.48010488G>A - Hirata et al., 2008 MSH6_000915 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:105; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 - Parent #1 g.48010488G>A - Hirata et al., 2008 MSH6_000915 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:105; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 - Parent #2 g.48010488G>A - Smith et al., 2008 MSH6_000915 - no significant association with breast cancer risk Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:106; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 - Parent #1 g.48010488G>A - Smith et al., 2008 MSH6_000915 - no significant association with breast cancer risk Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:106; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
-/? 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 - Unknown g.48010488G>A - - MSH6_000915 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:10788; - - - 1 Prof. Dr. med. Peter Propping
-/? 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 - Unknown g.48010488G>A - - MSH6_000915 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:11098; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Prof. Dr. med. Peter Propping
-/? 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 - Unknown g.48010488G>A - - MSH6_000915 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:11220; - - - 1 Prof. Dr. med. Peter Propping
-/? 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 - Unknown g.48010488G>A - - MSH6_000915 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:11251; - - - 1 Prof. Dr. med. Peter Propping
-/? 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 - Unknown g.48010488G>A - - MSH6_000915 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:11252; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Prof. Dr. med. Peter Propping
?/? 1 c.116G>A G>A at 116 r.(?) p.(Gly39Glu) Class 1 - Parent #1 g.48010488G>A - Kolodner et al., 1999 MSH6_000915 - - Germline (inherited) - - DNA SEQ - - ? Kolodner et al, 1999 ? - - healthy controls; InSiGHT LOVDv2 ID:11621; This data has been transferred from InSiGHT LOVDv2 database. A?; - - 1 InSiGHT group
?/? 1 c.116G>A G>A at 116 r.(?) p.(Gly39Glu) Class 1 - Parent #1 g.48010488G>A - Plaschke et al., 2000 MSH6_000915 - - Germline (inherited) - - DNA SEQ - - ? Plaschke et al, 2000 ? - - healthy donors; InSiGHT LOVDv2 ID:11622; This data has been transferred from InSiGHT LOVDv2 database. A?; - - 1 InSiGHT group
?/? 1 c.116G>A G>A at 116 r.(?) p.(Gly39Glu) Class 1 - Parent #1 g.48010488G>A - Nicolaides et al., 1996 MSH6_000915 - - Germline (inherited) - - DNA SEQ - - ? Nicolaides et al, 1996 ? - - InSiGHT LOVDv2 ID:11623; This data has been transferred from InSiGHT LOVDv2 database. A?; - - 1 InSiGHT group
?/? 1 c.116G>A p.Gly39Glu r.(?) p.(Gly39Glu) Class 1 - Unknown g.48010488G>A - Landi et al., 2006 MSH6_000915 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20715; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1 c.116G>A p.Gly39Glu r.(?) p.(Gly39Glu) Class 1 - Unknown g.48010488G>A - Berndt et al., 2007 MSH6_000915 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20716; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1 c.116G>A p.Gly39Glu r.(?) p.(Gly39Glu) Class 1 - Unknown g.48010488G>A - Sanyal et al., 2007 MSH6_000915 - polymorphism showing higher risk for malignant urinary bladder neoplasms than non-carriers Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20717; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1 c.116G>A p.Gly39Glu r.(?) p.(Gly39Glu) Class 1 - Unknown g.48010488G>A - Maxwell et al., 2008 MSH6_000915 - identified in a glioblastoma multiforme tumour sample Somatic - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20718; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 - Unknown g.48010488G>A - Verma et al., 1999 MSH6_000915 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20723; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
?/? 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 - Unknown g.48010488G>A - Charames et al., 2000 MSH6_000915 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:20724; This data has been transferred from InSiGHT LOVDv2 database. - - - 1 Michael Woods
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