Unique variants in the MSH6 gene


MSH6 variants classified by the InSiGHT consortium: criteria used for classification are available here. We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.
Information The variants shown are described using the NM_000179.2 transcript reference sequence.

1690 entries on 17 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 - c.1094ˆ1095G>A r.(?) p.(Trp365*) - VUS g.48026216ˆ48026217G>A - p.Trp365X - MSH6_000934 identified in a glioblastoma multiforme tumour sample PubMed: Maxwell 2008 - - Somatic - - - - - Michael Woods
?/., ?/? 2 1 c.-13022_-1711del r.? p.? - VUS g.47997351_48008662del g.47770212_47781523del - - MSH6_000012 Insight class: 3 PubMed: van der Klift 2005 - - Germline, SUMMARY record - - - - - Carli Tops, InSiGHT - John-Paul Plazzer
+/+, +/. 2 1_2i c.-11863_457+1921del r.? p.? - pathogenic g.47998510_48020183del g.47771371_47793044del - - MSH6_000002 21.6 Kb deletion exon 1-2, Insight class: 5 PubMed: van der Klift 2005 - - Germline, SUMMARY record - - - - - Carli Tops, InSiGHT - John-Paul Plazzer
+/+, +/. 3 1_2i c.-3097_457+2010del r.? p.? - pathogenic g.48007276_48020272del g.47780137_47793133del - - MSH6_000003 13.0 Kb deletion promoter to exon 2, Insight class: 5 PubMed: Plaschke 2003, PubMed: Plaschke 2004 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
-/-, ?/. 5 1 c.-557T>G r.(=) p.(=) - benign, VUS g.48009816T>G g.47782677T>G -556G>T, -556G>T (rs3136228) - MSH6_000597 Insight class: 1 PubMed: Gazzoli 2003, PubMed: Tulupova 2008 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
-/-, -/., ?/. 3 1 c.-448G>A r.(=) p.(=) - benign, VUS g.48009925G>A g.47782786G>A - - MSH6_000591 found homozygeous; c.-159C>T und c.-448G>A, Insight class: 1, 1 more item PubMed: Gazzoli 2003 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Andreas Laner
-/-, ?/. 2 1 c.-210C>T r.(=) p.(=) - benign, VUS g.48010163C>T g.47783024C>T - - MSH6_000429 Functional studies indicate Inactivation of splice1 site, Insight class: 1 PubMed: Gazzoli 2003 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
-/-, ?/. 5 1 c.-159C>T r.(=) p.(=) - benign, VUS g.48010214C>T g.47783075C>T - - MSH6_000401 Insight class: 1 PubMed: Mrkonjic 2007, PubMed: Peterlongo 2003 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/., ?/. 2 _1_1i c.(?_-152)_(260+1_261-1)del r.? p.? - pathogenic, VUS g.(?_48010221)_(48010633_48018065)del - (?_-152)_260+?del/Del exon 1 - MSH6_000174 Not classified DUPLICATE – to be removed - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Thomas Hansen
+/+, +/. 5 _1_2i c.(?_-152)_(457+1_458-1)del r.? p.? - pathogenic g.(?_48010221)_(48018263_48023032)del - 1-?_457+?del, 1-?_475+?del, MSH6:(?_-152)_457+?del breakpoint not tested - MSH6_000001 deletion of 21.6 kb around exon 1+2, in cis with c.2008G>A,p.Gly670Arg, deletion of exon 1-2, 1 more item Carli Tops, Daniela Barana, PubMed: Kets 2006, PubMed: Overbeek 2007 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group
+/+, +/., +?/. 5 _1_10_ c.(?_-152)_(*93_?)del r.? p.? - likely pathogenic, pathogenic g.(?_48010221)_(48034092_?)del - (?_-152)_(*93_?)del/Del exon 1-10, del MSH2 ex1_16, delTACSTD1-15,-27, del MSH6 - MSH6_000911 deletion entire gene, Insight class: 5 PubMed: Nilbert 2008, {PMID:Nilbert Fam Cancer. 2009;8(1):75-83.:18566915} - - Germline, SUMMARY record - - - - - Carli Tops, InSiGHT - John-Paul Plazzer, Michael Woods, Amanda Spurdle, Thomas Hansen
?/. 3 1 c.-118G>A r.(=) p.(=) - VUS g.48010255G>A g.47783116G>A -118G>A - MSH6_000121 Not classified DUPLICATE – to be removed - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Thomas Hansen
-?/-?, ?/. 2 1 c.-88G>A r.(=) p.(=) - likely benign, VUS g.48010285G>A g.47783146G>A - - MSH6_000792 Insight class: 2 - - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Hanno Roomere
-?/., ?/., ?/? 5 1 c.-18G>T r.(=), r.(?) p.(=) - likely benign, VUS g.48010355G>T g.47783216G>T MSH6(NM_000179.2):c.-18G>T - MSH6_000006 VKGL data sharing initiative Nederland, Insight class: 3 PubMed: Lamberti 2006 - - CLASSIFICATION record, Germline, SUMMARY record - - - - - Carli Tops, InSiGHT - John-Paul Plazzer, Michael Woods, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/., ?/? 2 1 c.-8C>T r.(=) p.(=) - VUS g.48010365C>T g.47783226C>T - - MSH6_000770 Insight class: 3 - - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Bert Redeker
+/. 1 _1_3i c.(?_-1)_(645+1_646-1)del r.? p.0? - pathogenic g.? - 1?_645+?del - MSH6_000893 Submitter has reported the nomenclature for deletion of MSH2 exon 1 to 3 not MSH6 - - - Germline - - - - - José Luis Soto
+/., ?/. 2 _1_6i c.(?_-1)_(3556+1_3557-1)del r.? p.? - pathogenic, VUS g.(?_48010373)_(48032167_48032756)del - - - MSH6_000084 Submitted by ICCon – South Australia DUPLICATE – to be removed - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, ICCon
+/. 1 - c.(?_-152)_ (260+1_261-1)del r.? p.? - pathogenic g.(?_48010221)_(48010633_48018065)del - 1-?_ 260 +?del - MSH6_000174 - PubMed: Ziada-Bouchaar 2016 - - Germline - - - - - Ziada-Bouchaar Hadia
+/., ?/. 2 _1_2i c.(?_1)_(457+1_458-1)del r.? p.? - pathogenic, VUS g.(?_48010373)_(48018263_48023032)del - - - MSH6_000042 ICCON data, Westmead, NSW DUPLICATE – to be removed - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer
+?/. 1 1 c.2T>A r.? p.(Met1?) - likely pathogenic g.48010374T>A g.47783235T>A - - MSH6_010967 - - - - Germline/De novo (untested) - - - - - Treena Cranston
+/., +?/+? 5 1 c.3G>T r.(?) p.(Met1?) - likely pathogenic, pathogenic g.48010375G>T g.47783236G>T - - MSH6_000056 co-occurrence with MSH2 c.408DELT mutation, Proband also carries the MSH6 VLB p.N21K, Insight class: 4, 1 more item - - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer
+/. 1 1 c.23_26del r.(?) p.Tyr8SerfsTer8 - pathogenic g.48010395_48010398del g.47783256_47783259del 23_26delACAG - MSH6_000913 1 more item PubMed: Rossi 2017 - - Germline - - - - - Mev Dominguez Valentin
?/., ?/? 5 1 c.38A>C r.(?) p.(Lys13Thr) - NA, VUS g.48010410A>C g.47783271A>C K13T - MSH6_000033 0/1104 controls, ClustalW AA not conserved, PolyPhen possibly damaging, SIFT score intolerant, 1 more item PubMed: Barnetson 2008 - - Germline, In silico, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Rolf Sijmons
?/. 2 1 c.44C>T r.(?) p.(Pro15Leu), p.Pro15Leu - VUS g.48010416C>T g.47783277C>T 44C>T - MSH6_000914 1 more item ClinVar, PubMed: Rossi 2017 - - Germline, Germline/De novo (untested) - - - - - Mev Dominguez Valentin, Treena Cranston
-/., -?/-?, -?/., ?/. 9 1 c.59C>T r.(?) p.(Ala20Val) - benign, likely benign, NA, VUS g.48010431C>T g.47783292C>T 59C>T, MSH6(NM_000179.2):c.59C>T (p.A20V) - MSH6_000591 MMR activity, VKGL data sharing initiative Nederland, Insight class: 2 Drost Hum Mutat 2012 33: 488-494., PubMed: Charames 2000, PubMed: Nilbert 2008, 1 more item - - CLASSIFICATION record, Germline, In vitro (cloned), SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Andreas Laner, Thomas Hansen, VKGL-NL_Groningen, VKGL-NL_VUmc
?/., ?/? 2 1 c.62A>G r.(?) p.(Asn21Ser) - VUS g.48010434A>G g.47783295A>G - - MSH6_000606 Insight class: 3 PubMed: Nilbert 2008,PubMed: Okkels 2012 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
-?/., ?/. 3 1 c.63C>G r.(?) p.(Asn21Lys) - likely benign, VUS g.48010435C>G g.47783296C>G - - MSH6_000058 1 more item DUPLICATE – to be removed - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer
+/. 1 1 c.71C>A r.(?) p.(Ser24*) - pathogenic g.48010443C>A g.47783304C>A - - MSH6_001168 1 more item - - - Germline - - - - - Caixia Ren
-/., -?/., ?/., ?/? 17 1 c.73G>T r.(?) p.(Ala25Ser) - benign, likely benign, NA, VUS g.48010445G>T g.47783306G>T 73G>T, MSH6(NM_000179.2):c.73G>T (p.A25S) - MSH6_000615 Carrier frequency in Iceland (%): 0.51; Odds ratio for CRC (95%CI): 1.04 (0.61-1.76), MMR activity, 2 more items Drost Hum Mutat 2012 33: 488-494., PubMed: Haraldsdottir 2018, PubMed: Nilbert 2008, 1 more item - - CLASSIFICATION record, Germline, In vitro (cloned), SUMMARY record - 0.51 - - - Ans M.W. van den Ouweland, Hans Gille, InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Andreas Laner, Thomas Hansen, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_NKI, Sigurdis Haraldsdottir
-?/. 1 - c.94G>T r.(?) p.(Gly32Cys) - likely benign g.48010466G>T g.47783327G>T MSH6(NM_000179.2):c.94G>T (p.G32C) - MSH6_001181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.102del r.(?) p.(Ala35ProfsTer46) - pathogenic g.48010474del g.47783335del - - MSH6_001182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.103G>C r.(?) p.(Ala35Pro) - likely benign g.48010475G>C g.47783336G>C MSH6(NM_000179.2):c.103G>C (p.A35P) - MSH6_001255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/. 3 - c.107C>T r.(?) p.(Ala36Val), p.Ala36Val ACMG likely benign, VUS g.48010479C>T g.47783340C>T - - MSH6_001166 2 more items Liu submitted, 2021 - rs61756469 Germline ? - - - - Andreas Laner, Liu Wenbing
?/., ?/? 2 1 c.108T>G r.(=) p.(=) - VUS g.48010480T>G g.47783341T>G T->G at 108 - MSH6_000009 Insight class: 3 PubMed: Nicolaides 1996 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group
?/. 1 1 c.115G>C r.(?) p.(Gly39Arg) - VUS g.48010487G>C g.47783348G>C - - MSH6_010968 - - - - Germline/De novo (untested) - gnomAD: ALL:0.011% - - - Treena Cranston
-/-, -/., ?/. 91 1 c.116G>A r.(?), r.116g>a p.(Gly39Glu), p.Gly39Glu - benign, VUS g.48010488G>A g.47783349G>A 116G>A, 3150_3162dup hetero; 116G>A hetero; 2633T>C hetero, G>A at 116, p.Gly39Glu, 5 more items - MSH6_000915 associated with colon cancer risk in men, identified in a glioblastoma multiforme tumour sample, 5 more items contributed by Dept. of Dr Vaccaro, Gabriel Capell?í and Ignacio Blanco, Kristina Lagerstedt Robinson, 31 more items - - CLASSIFICATION record, Germline, Somatic, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Peter Propping, Prof. Dr. med., Felipe Silva, Ruth Armstrong, Angela Solano & F Cardoso, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC, Maximiliano Zeballos, VKGL-NL_NKI, Jack Ji, Carlos Vaccaro
-?/. 1 - c.120C>G r.(?) p.(Ala40=) - likely benign g.48010492C>G g.47783353C>G - - MSH6_001183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/-, ?/., ?/? 4 1 c.124C>T r.(?) p.(Pro42Ser), p.Pro42Leu - VUS g.48010496C>T g.47783357C>T 124C>T, p.Pro42Leu - MSH6_000727 Insight class: 3, 1 more item PubMed: da Silva 2015, PubMed: Rossi 2017 - - Germline, Germline/De novo (untested), SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Mev Dominguez Valentin, Felipe Silva
?/. 1 - c.135C>T r.(=) p.(=) - VUS g.48010507C>T g.47783368C>T - - MSH6_001001 - - - - Germline - - - - - Andreas Laner
-?/. 2 - c.147C>T r.(?) p.(Ala49=) - likely benign g.48010519C>T g.47783380C>T MSH6(NM_000179.2):c.147C>T (p.A49=) - MSH6_001184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
+/., ?/. 2 1 c.151_167dup r.(?) p.(Pro57Alafs*30) - pathogenic, VUS g.48010523_48010539dup g.47783384_47783400dup 151_167dup - MSH6_000178 - DUPLICATE – to be removed - - De novo, SUMMARY record - - - - - Ian Frayling, InSiGHT - John-Paul Plazzer
+/. 1 - c.159_189delinsCAGGGA r.(?) p.Gly54Argfs*19 - pathogenic g.48010531_48010561delinsCAGGGA g.47783392_47783422delinsCAGGGA disruptive variant - MSH6_001002 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - Stephanie Baert-Desurmont
-?/-?, ?/. 2 1 c.161G>C r.(?) p.(Gly54Ala) - likely benign, VUS g.48010533G>C g.47783394G>C - - MSH6_000404 somatic, Insight class: 2 PubMed: Peterlongo 2003 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
-?/. 2 - c.165T>G r.(?) p.(Pro55=) - likely benign g.48010537T>G g.47783398T>G MSH6(NM_000179.2):c.165T>G (p.P55=) - MSH6_000865 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.167G>A r.(?) p.(Gly56Glu) - likely benign g.48010539G>A g.47783400G>A - - MSH6_001185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 3 1 c.178T>C r.(=), r.(?) p.(=), p.(Leu60=) - likely benign g.48010550T>C g.47783411T>C 178T>C, MSH6(NM_000179.2):c.178T>C (p.L60=) - MSH6_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Thomas Hansen, VKGL-NL_AMC
?/. 1 1 c.181G>A r.(?) p.(Ala61Thr) - VUS g.48010553G>A g.47783414G>A - - MSH2_000091 - - - - Germline - - - - - Barbara Luisa Soares
?/. 1 - c.182C>T r.(?) p.(Ala61Val) - VUS g.48010554C>T g.47783415C>T MSH6(NM_000179.2):c.182C>T (p.A61V) - MSH6_001003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/-, -/., -?/., ?/. 62 1 c.186C>A r.(=), r.(?) p.(=), p.(Arg62=) - benign, likely benign, VUS g.48010558C>A g.47783419C>A 186A>C, A>C, Authors describe this as 186G>A, MSH6(NM_000179.2):c.186C>A (p.R62=), 5 more items - MSH6_000917 VKGL data sharing initiative Nederland, Insight class: 1 contributed by Dept. of Dr Vaccaro, Kristina Lagerstedt Robinson, Kristina Lagerstedt Robinson, 18 more items - - CLASSIFICATION record, Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Peter Propping, Prof. Dr. med., Martin Kask, Angela Solano & F Cardoso, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_NKI, Jack Ji, Carlos Vaccaro
-?/-?, -?/., ?/. 5 1 c.194C>T r.(?) p.(Ser65Leu) - likely benign, NA, VUS g.48010566C>T g.47783427C>T S65L - MSH6_000035 0/1104 controls, ClustalW AA not conserved, PolyPhen benign, SIFT score tolerated, Insight class: 2 PubMed: Barnetson 2008 - - Germline, In silico, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Rolf Sijmons
-?/. 2 - c.208A>G r.(?) p.(Lys70Glu) - likely benign g.48010580A>G g.47783441A>G MSH6(NM_000179.2):c.208A>G (p.K70E) - MSH6_001004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 2 1 c.220G>T r.(?) p.(Gly74*) - VUS g.48010592G>T g.47783453G>T - - MSH6_000901 - DUPLICATE – to be removed, PubMed: Hampel 2007 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer
-?/. 1 - c.225G>A r.(?) p.(Gly75=) - likely benign g.48010597G>A - - - MSH6_010296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/-?, -?/., ?/. 7 1 c.241G>A r.(?) p.(Ala81Thr) - likely benign, VUS g.48010613G>A g.47783474G>A 241G>A - MSH6_000629 Insight class: 2 Noralane Lindor and Steve Thibodeau, Noralane Lindor and Steve Thibodeau, 2 more items - - Germline, SUMMARY record - - - - - Elke Holinski-Feder, InSiGHT - John-Paul Plazzer, INSiGHT group, Thomas Hansen
-?/., ?/., ?/? 4 1 c.255C>A r.(=), r.(?) p.(=), p.(Pro85=) - likely benign, VUS g.48010627C>A g.47783488C>A MSH6(NM_000179.2):c.255C>A (p.P85=) - MSH6_000359 VKGL data sharing initiative Nederland, Insight class: 3 - - - CLASSIFICATION record, Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Peter Propping, Prof. Dr. med., VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/., ?/. 2 1 c.255dup r.(?) p.(Thr86Hisfs*4) - pathogenic, VUS g.48010627dup g.47783488dup - - MSH6_000070 - DUPLICATE – to be removed - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Gabriel Capella
+/. 1 - c.260+2_260+3delinsAG r.spl? p.? - pathogenic g.48010634_48010635delinsAG g.47783495_47783496delinsAG - - MSH6_000918 - PubMed: Dillon 2017 - - Germline - - - - - InSiGHT - John-Paul Plazzer
-?/. 1 - c.260+16T>C r.(=) p.(=) - likely benign g.48010648T>C g.47783509T>C - - MSH6_001256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/-, -/., -?/., ?/. 21 1i c.260+22C>G r.(=), r.(?) p.(=) - benign, likely benign, VUS g.48010654C>G g.47783515C>G 260+22C>G, c>g at 260+22, MSH6(NM_000179.2):c.260+22C>G - MSH6_000013 VKGL data sharing initiative Nederland, Insight class: 1 contributed by Dept. of Dr Vaccaro, Kristina Lagerstedt Robinson, PubMed: Kolodner 1999, 3 more items - - CLASSIFICATION record, Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Peter Propping, Prof. Dr. med., Martin Kask, Angela Solano & F Cardoso, VKGL-NL_Rotterdam, VKGL-NL_NKI, Carlos Vaccaro
?/., ?/? 2 1i c.260+25A>C r.(=) p.(=) - VUS g.48010657A>C g.47783518A>C - - MSH6_000451 Insight class: 3 PubMed: Woods 2005 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/., ?/? 2 1i c.260+43G>A r.(=) p.(=) - VUS g.48010675G>A g.47783536G>A - - MSH6_000452 Insight class: 3 PubMed: Woods 2005 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/., ?/? 2 1i c.260+96A>C r.(=) p.(=) - VUS g.48010728A>C g.47783589A>C - - MSH6_000453 Insight class: 3 PubMed: Woods 2005 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/., ?/? 2 1i c.260+101C>A r.(=) p.(=) - VUS g.48010733C>A g.47783594C>A - - MSH6_000448 Insight class: 3 PubMed: Woods 2005 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/., ?/? 2 1i c.260+131C>A r.(=) p.(=) - VUS g.48010763C>A g.47783624C>A - - MSH6_000449 Insight class: 3 PubMed: Woods 2005 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
-/-, ?/. 6 1i c.260+2214C>T r.(=) p.(=) - benign, VUS g.48012846C>T g.47785707C>T described as in intron 2 - MSH6_000450 Insight class: 1 PubMed: Hirata 2008, PubMed: Schafmayer 2007, PubMed: Song 2006 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
-/-, ?/. 2 1i c.260+2467A>G r.(=) p.(=) - benign, VUS g.48013099A>G g.47785960A>G - - MSH6_000446 Insight class: 1 PubMed: Schafmayer 2007 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
-/-, ?/. 2 1i c.261-1170G>T r.(=) p.(=) - benign, VUS g.48016896G>T g.47789757G>T - - MSH6_000456 Insight class: 1 PubMed: Song 2006 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
-/-, -/., ?/. 11 1i c.261-36A>G r.(=), r.(?) p.(=) - benign, VUS g.48018030A>G g.47790891A>G MSH6(NM_000179.2):c.261-36A>G - MSH6_000021 122 heterozygous; Clinindb (India), 3 homozygous; Clinindb (India), Insight class: 1, 1 more item PubMed: Cederquist 2004, PubMed: Chan 1999, PubMed: Kolodner 1999, PubMed: Parc 2000, 4 more items - rs1800931 CLASSIFICATION record, Germline, SUMMARY record - 122/2795 individuals, 3/2795 individuals - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, VKGL-NL_NKI, Mohammed Faruq
?/. 1 - c.261-?_457+?dup r.(?) p.? - VUS g.48018066_48018262dup - Duplication exon 2 - MSH6_000919 1 more item PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - Kristina Lagerstedt Robinson
?/., ?/? 3 1i_2i c.(260+1_261-1)_(457+1_458-1)dup r.? p.? - VUS g.(48010633_48018065)_(48018263_48023032)dup - 265-?_457+?dup (duplication exon 2) - MSH6_000454 Insight class: 3 PubMed: Kets 2006, PubMed: Overbeek 2007 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/. 1 1i_10_ c.(260+1_261-1)_(*93_?)dup r.? p.? - pathogenic g.(48010633_48018065)_(48034092_?)del - 261-?_*93+?dup [1.467 Mb interstitial duplication (2p16.3-2p16.3)] - MSH6_000179 - - - - De novo - - - - - Ian Frayling
?/. 2 - c.263G>A r.(?) p.(Cys88Tyr) - NA g.48018068G>A - chr2_48018068_G_A - MSH6_010313 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/53461 controls, 4/60466 cases - - - BRIDGES consortium
-?/. 1 - c.265G>A r.(?) p.(Asp89Asn) - likely benign g.48018070G>A g.47790931G>A - - MSH6_001186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.266A>T r.(?) p.(Asp89Val) - NA g.48018071A>T - chr2_48018071_A_T - MSH6_010314 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.267C>G r.(?) p.(Asp89Glu) - NA g.48018072C>G - chr2_48018072_C_G - MSH6_010315 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 2/60466 cases - - - BRIDGES consortium
?/. 1 - c.274C>T r.(?) p.(Pro92Ser) - NA g.48018079C>T - chr2_48018079_C_T - MSH6_010316 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
-/-, -/., -?/., ?/. 67 2 c.276A>G r.(=), r.(?) p.(=), p.(Pro92=) - benign, likely benign, VUS g.48018081A>G g.47790942A>G G>A, MSH6(NM_000179.2):c.276A>G (p.P92=), p.Pro92Pro, 4 more items - MSH6_000920 VKGL data sharing initiative Nederland, Insight class: 1 contributed by Dept. of Dr Vaccaro, Desiree du Sart, Desiree du Sart, Desiree du Sart, Desiree du Sart, 17 more items - - CLASSIFICATION record, Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Peter Propping, Prof. Dr. med., Martin Kask, Angela Solano & F Cardoso, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC, Maximiliano Zeballos, VKGL-NL_NKI, Jack Ji, Carlos Vaccaro
+/. 1 - c.280del r.(?) p.(Asp94IlefsTer55) - pathogenic g.48018085del g.47790946del MSH6(NM_000179.2):c.280delG (p.D94Ifs*55) - MSH6_001005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.280G>T r.(?) p.(Asp94Tyr) - VUS g.48018085G>T g.47790946G>T - - MSH6_001006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.283T>G r.(?) p.(Leu95Val) - NA g.48018088T>G - chr2_48018088_T_G - MSH6_010317 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
+/. 1 - c.290G>A r.(?) p.(Trp97Ter) - pathogenic g.48018095G>A g.47790956G>A - - MSH6_001187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.290G>C r.(?) p.(Trp97Ser) - NA g.48018095G>C - chr2_48018095_G_C - MSH6_010318 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.296A>G r.(?) p.(Lys99Arg) - NA g.48018101A>G - chr2_48018101_A_G - MSH6_010319 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/., ?/? 3 2 c.297G>T r.(?) p.(Lys99Asn) - VUS g.48018102G>T g.47790963G>T - - MSH6_000024 Insight class: 3 PubMed: Plaschke 2004 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Beate Dr. Betz
+/., ?/. 2 2 c.305del r.(?) p.(Gly102Valfs*47) - pathogenic, VUS g.48018110del g.47790971del 305delG - MSH6_000124 Not classified DUPLICATE – to be removed - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Thomas Hansen
?/. 1 - c.308A>C r.(?) p.(Tyr103Ser) - NA g.48018113A>C - chr2_48018113_A_C - MSH6_010320 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.310C>T r.(?) p.(Pro104Ser) - NA g.48018115C>T - chr2_48018115_C_T - MSH6_010321 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases, 2/53461 controls - - - BRIDGES consortium
-?/., ?/. 2 2 c.312C>T r.(=) p.(=) - likely benign, VUS g.48018117C>T g.47790978C>T 312C>T - MSH6_000125 Not classified DUPLICATE – to be removed - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Thomas Hansen
?/. 1 - c.313del r.(?) p.(Trp105Glyfs*44) - NA g.48018118del - chr2_48018117_CT_C - MSH6_010322 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
+/. 1 - c.315del r.(?) p.Trp105Cysfs*44 - pathogenic g.48018120del g.47790981del disruptive variant - MSH6_001007 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - Stephanie Baert-Desurmont
?/. 2 2 c.325C>G r.(?) p.(Leu109Val) - VUS g.48018130C>G g.47790991C>G p.[Leu109Val]+[Leu109Val] - MSH6_000921 identified in a glioblastoma multiforme tumour sample DUPLICATE – to be removed, PubMed: Maxwell 2008 - - Somatic, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/. 1 - c.328G>A r.(?) p.(Val110Ile) - NA g.48018133G>A - chr2_48018133_G_A - MSH6_010323 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 3 - c.335A>G r.(?) p.(Asn112Ser) - NA, VUS g.48018140A>G g.47791001A>G chr2_48018140_A_G - MSH6_001008 PolyPhen-2 HumVar (PSIC: 0,61) possibly damaging, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 5/53461 controls, 7/60466 cases - - - Andreas Laner, BRIDGES consortium
?/. 1 - c.336C>A r.(?) p.(Asn112Lys) - NA g.48018141C>A - chr2_48018141_C_A - MSH6_010324 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.337C>T r.(?) p.(His113Tyr) - NA g.48018142C>T - chr2_48018142_C_T - MSH6_010325 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+/. 1 - c.342dup r.(?) p.(Phe115LeufsTer2) - pathogenic g.48018147dup g.47791008dup - - MSH6_001257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.349G>A r.(?) p.(Gly117Arg) - NA g.48018154G>A - chr2_48018154_G_A - MSH6_010326 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
-?/. 1 2 c.354A>G r.(=) p.(Thr118=) - likely benign g.48018159A>G g.47791020A>G - - MSH6_010969 - - - - Germline/De novo (untested) - - - - - Treena Cranston
?/. 2 - c.355T>G r.(?) p.(Phe119Val) - NA g.48018160T>G - chr2_48018160_T_G - MSH6_010327 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
+/., ?/. 2 2 c.356_359del r.(?) p.(Phe119Serfs*29) - pathogenic, VUS g.48018161_48018164del g.47791022_47791025del 356_359delTCAT - MSH6_000098 Submitted by ICCon – South Australia DUPLICATE – to be removed - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, ICCon
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »