All transcript variants in gene MSH6


Criteria used for classification are available from 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 We encourage submission of relevant unpublished information to assist in the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.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-/- 1i c.260+22C>G benign r.(=) p.(=) g.48010654C>G - - - MSH6_000013 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/. 1i c.260+22C>G benign r.(?) p.(=) g.48010654C>G - - - MSH6_000013 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1i c.260+22C>G benign r.(?) p.(=) g.48010654C>G - - - MSH6_000013 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1i c.260+22C>G benign r.(?) p.(=) g.48010654C>G - - - MSH6_000013 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1i c.260+22C>G benign r.(?) p.(=) g.48010654C>G - - - MSH6_000013 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1i c.260+22C>G benign r.(?) p.(=) g.48010654C>G - - - MSH6_000013 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1i c.260+22C>G benign r.(?) p.(=) g.48010654C>G - - - MSH6_000013 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1i c.260+22C>G benign r.(?) p.(=) g.48010654C>G - - - MSH6_000013 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1i c.260+22C>G benign r.(?) p.(=) g.48010654C>G - - - MSH6_000013 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1i c.260+22C>G benign r.(?) p.(=) g.48010654C>G - - - MSH6_000013 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 1i c.260+22C>G VUS r.(=) p.(=) g.48010654C>G - c>g at 260+22 - MSH6_000013 - PubMed: Plaschke 2000 - - Germline - - - 0 - INSiGHT group
?/. 1i c.260+22C>G VUS r.(=) p.(=) g.48010654C>G - c>g at 260+22 - MSH6_000013 - PubMed: Kolodner 1999 - - Germline - - - 0 - INSiGHT group
?/. 1i c.260+22C>G VUS r.(=) p.(=) g.48010654C>G - - - MSH6_000013 - PubMed: Peterlongo 2003 - - Germline - - - 0 - Michael Woods
?/. 1i c.260+22C>G VUS r.(=) p.(=) g.48010654C>G - - - MSH6_000013 - PubMed: Woods 2005 - - Germline - - - 0 - Michael Woods
?/. 1i c.260+22C>G VUS r.(=) p.(=) g.48010654C>G - 260+22C>G - MSH6_000013 - Kristina Lagerstedt Robinson - - Germline - - - 0 - INSiGHT group
?/. 1i c.260+22C>G VUS r.(=) p.(=) g.48010654C>G - - - MSH6_000013 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
?/. 1i c.260+22C>G VUS r.(=) p.(=) g.48010654C>G - - - MSH6_000013 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
-?/. 1i c.260+22C>G likely benign r.(=) p.(=) g.48010654C>G - - - MSH6_000013 - - - - Germline - - - 0 - Martin Kask
-/. - c.260+22C>G benign r.(=) p.(=) g.48010654C>G - MSH6(NM_000179.2):c.260+22C>G - MSH6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.260+22C>G benign r.(=) p.(=) g.48010654C>G - MSH6(NM_000179.2):c.260+22C>G - MSH6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-/. - c.260+22C>G benign r.(?) p.(=) g.48010654C>G g.47783515C>G - - MSH6_000013 - - - - Germline - - - 0 - Carlos Vaccaro
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