All 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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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.

67 entries on 1 page. Showing entries 1 - 67.
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Effect     

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     
-/. - c.276A>G r.(?) p.(Pro92=) - benign g.48018081A>G g.47790942A>G MSH6(NM_000179.2):c.276A>G (p.P92=) - MSH6_000920 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.276A>G r.(?) p.(Pro92=) - benign g.48018081A>G g.47790942A>G MSH6(NM_000179.2):c.276A>G (p.P92=) - MSH6_000920 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.276A>G r.(?) p.(Pro92=) - benign g.48018081A>G g.47790942A>G MSH6(NM_000179.2):c.276A>G (p.P92=) - MSH6_000920 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_NKI
-/. - c.276A>G r.(?) p.(Pro92=) - benign g.48018081A>G g.47790942A>G MSH6(NM_000179.2):c.276A>G (p.P92=) - MSH6_000920 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.276A>G r.(?) p.(Pro92=) - benign g.48018081A>G g.47790942A>G MSH6(NM_000179.2):c.276A>G (p.P92=) - MSH6_000920 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/- 2 c.276A>G r.(=) p.(=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/. 2 c.276A>G r.(?) p.(Pro92=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 2 c.276A>G r.(?) p.(Pro92=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 2 c.276A>G r.(?) p.(Pro92=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 2 c.276A>G r.(?) p.(Pro92=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 2 c.276A>G r.(?) p.(Pro92=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 2 c.276A>G r.(?) p.(Pro92=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 2 c.276A>G r.(?) p.(Pro92=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 2 c.276A>G r.(?) p.(Pro92=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 2 c.276A>G r.(?) p.(Pro92=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 2 c.276A>G r.(?) p.(Pro92=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Kolodner 1999 - - Germline - - - 0 - INSiGHT group
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Plaschke 2000 - - Germline - - - 0 - INSiGHT group
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Nicolaides 1996 - - Germline - - - 0 - INSiGHT group
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Song 2006 - - Germline - - - 0 - Michael Woods
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Verma 1999 - - Germline - - - 0 - Michael Woods
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Charames 2000 - - Germline - - - 0 - Michael Woods
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G G>A - MSH6_000920 - PubMed: Parc 2000 - - Germline - - - 0 - Michael Woods
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Peterlongo 2003 - - Germline - - - 0 - Michael Woods
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Lucci-Cordisco 2001 - - Germline - - - 0 - Michael Woods
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Cederquist 2004 - - Germline - - - 0 - Michael Woods
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Vahteristo 2005 - - Germline - - - 0 - Michael Woods
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Woods 2005 - - Germline - - - 0 - Michael Woods
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Hegde 2005 - - Germline - - - 0 - Michael Woods
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Sanchez de Abajo 2005 - - Germline - - - 0 - Michael Woods
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Perez-Cabornero 2009 - - Germline - - - 0 - Michael Woods
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G Dx bowel ca 40yrs, IHC absent MSH6. Austin clinicHet for seq variants: 116G>A, 186C>A, 276A>G, 540T>C, 3438+14A>T. - MSH6_000920 - Desiree du Sart - - Germline - - - 0 - INSiGHT group
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G MSH2 MLPA (10/10/07) sequencing (10/10/07).Four heterozygous variants 186C>A (p.R62R), 276A>G (p.P92P), 540T>C (p.D180D) and 3438+14A>T. - MSH6_000920 - Desiree du Sart - - Germline - - - 0 - INSiGHT group
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G Variants: Three heterozygous 186C>A (p.R62R), 276A>G (p.P92P), 540T>C (p.D180D) and homozygous 3438+14A>T. - MSH6_000920 - Desiree du Sart - - Germline - - - 0 - INSiGHT group
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G Fhx bowel Ca.MSH2 seq &mlpa reported: 11/12/2008MSH6 polys (het): 186C>A, 276A>G, 540T>C, 3438+14A>T. - MSH6_000920 - Desiree du Sart - - Germline - - - 0 - INSiGHT group
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G p.Pro92Pro - MSH6_000920 - PubMed: Zidan 2007 - - Germline - - - 0 - Michael Woods
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
?/. 2 c.276A>G r.(=) p.(=) - VUS g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
-?/. 2 c.276A>G r.(=) p.(=) - likely benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Martin Kask
-/. 2 c.276A>G r.(=) p.(=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.276A>G r.(=) p.(=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.276A>G r.(=) p.(=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.276A>G r.(=) p.(=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.276A>G r.(=) p.(=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.276A>G r.(=) p.(=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.276A>G r.(=) p.(=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.276A>G r.(=) p.(=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.276A>G r.(=) p.(=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.276A>G r.(=) p.(=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.276A>G r.(=) p.(=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.276A>G r.(=) p.(=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Jack Ji
-/. - c.276A>G r.(?) p.(=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - PubMed: Thodi 2010 - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
-/. - c.276A>G r.(?) p.(Pro92=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Carlos Vaccaro
-/. 2 c.276A>G r.(?) p.(Pro92=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Maximiliano Zeballos
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