Full data view for gene MSH6


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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

29 entries on 1 page. Showing entries 1 - 29.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.457+13A>G r.(=) p.(=) Unknown - benign g.48018275A>G g.47791136A>G MSH6(NM_000179.2):c.457+13A>G (, p.(=)) - MSH6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.457+13A>G r.(=) p.(=) Unknown - likely benign g.48018275A>G g.47791136A>G MSH6(NM_000179.2):c.457+13A>G (, p.(=)) - MSH6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.457+13A>G r.(=) p.(=) Unknown - benign g.48018275A>G g.47791136A>G MSH6(NM_000179.2):c.457+13A>G (, p.(=)) - MSH6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.457+13A>G r.(=) p.(=) Unknown - benign g.48018275A>G g.47791136A>G MSH6(NM_000179.2):c.457+13A>G (, p.(=)) - MSH6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.457+13A>G r.(=) p.(=) Unknown - benign g.48018275A>G g.47791136A>G MSH6(NM_000179.2):c.457+13A>G (, p.(=)) - MSH6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/-? 2i c.457+13A>G r.(=) p.(=) Unknown - likely benign g.48018275A>G g.47791136A>G - - MSH6_000030 Insight class: 2 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2i c.457+13A>G r.(=) p.(=) Maternal (inferred) - VUS g.48018275A>G g.47791136A>G p.? - MSH6_000030 - - - - Germline - - - 0 - DNA MLPA, SEQ - screen data 2013-01-01 HNPCC - - 3 gen & 6 cases of CRC( Amsterdam II) M - - - - 0 - - 1 Ruth Armstrong
?/. 2i c.457+13A>G r.(=) p.(=) Parent #1 - VUS g.48018275A>G g.47791136A>G - - MSH6_000030 - PubMed: Kolodner 1999 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Kolodner 1999 healthy controls - - - - - 0 - - 1 INSiGHT group
?/. 2i c.457+13A>G r.(=) p.(=) Unknown - VUS g.48018275A>G g.47791136A>G - - MSH6_000030 - PubMed: Peterlongo 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 2i c.457+13A>G r.(=) p.(=) Unknown - VUS g.48018275A>G g.47791136A>G - - MSH6_000030 - PubMed: Woods 2005 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 2i c.457+13A>G r.(=) p.(=) Unknown - VUS g.48018275A>G g.47791136A>G 457+13A>G - MSH6_000030 - Mark Jenkins; John Hopper - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 INSiGHT group
?/. 2i c.457+13A>G r.(=) p.(=) Unknown - VUS g.48018275A>G g.47791136A>G 457+13A>G - MSH6_000030 - Mark Jenkins; John Hopper - - Germline - - - 0 - DNA SEQ - - ? - - ACI (North American proband CRC age 36 ?û Amie Blanco SID 127); 2 Australian probands ?û [Aus CCFR]; - - - - - 0 - - 1 INSiGHT group
?/. 2i c.457+13A>G r.(=) p.(=) Unknown - VUS g.48018275A>G g.47791136A>G 457+13A>G - MSH6_000030 - Mark Jenkins; John Hopper - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 INSiGHT group
?/. 2i c.457+13A>G r.(=) p.(=) Unknown - VUS g.48018275A>G g.47791136A>G - - MSH6_000030 - - - - Germline - - - 0 - DNA SEQ - - cancer - - - M - Cuba;Germany;United Kingdom (Great Britain) - - 0 pedigree - 1 Amie Blanco
?/. 2i c.457+13A>G r.(=) p.(=) Unknown - VUS g.48018275A>G g.47791136A>G - - MSH6_000030 - - - - Germline - - - 0 - DNA SEQ - screen date 2017-01-01 ? - - no family history M - - - - 0 - - 1 Jack Ji
-?/. 2i c.457+13A>G r.(=) p.(=) Unknown - likely benign g.48018275A>G g.47791136A>G 457+13A>G - MSH6_000030 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
-?/. 2i c.457+13A>G r.(=) p.(=) Unknown - likely benign g.48018275A>G g.47791136A>G 457+13A>G - MSH6_000030 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
-?/. 2i c.457+13A>G r.(=) p.(=) Unknown - likely benign g.48018275A>G g.47791136A>G 457+13A>G - MSH6_000030 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
-?/. 2i c.457+13A>G r.(=) p.(=) Unknown - likely benign g.48018275A>G g.47791136A>G 457+13A>G - MSH6_000030 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
-?/. 2i c.457+13A>G r.(=) p.(=) Unknown - likely benign g.48018275A>G g.47791136A>G 457+13A>G - MSH6_000030 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
-?/. 2i c.457+13A>G r.(=) p.(=) Unknown - likely benign g.48018275A>G g.47791136A>G 457+13A>G - MSH6_000030 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
-?/. 2i c.457+13A>G r.(=) p.(=) Unknown - likely benign g.48018275A>G g.47791136A>G 457+13A>G - MSH6_000030 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
-?/. 2i c.457+13A>G r.(=) p.(=) Unknown - likely benign g.48018275A>G g.47791136A>G 457+13A>G - MSH6_000030 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
-?/. 2i c.457+13A>G r.(=) p.(=) Unknown - likely benign g.48018275A>G g.47791136A>G 457+13A>G - MSH6_000030 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
-?/. 2i c.457+13A>G r.(=) p.(=) Unknown - likely benign g.48018275A>G g.47791136A>G 457+13A>G - MSH6_000030 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
-?/. - c.457+13A>G r.(=) p.(=) Unknown - likely benign g.48018275A>G g.47791136A>G MSH6(NM_000179.2):c.457+13A>G (, p.(=)) - MSH6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.457+13A>G r.(=) p.(=) Unknown - benign g.48018275A>G g.47791136A>G MSH6(NM_000179.2):c.457+13A>G (, p.(=)) - MSH6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.3646G>A r.(?) p.(Gly1216Arg) Unknown - VUS g.48032846G>A g.47805707G>A - - MSH6_000030 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 7 c.3646G>A r.(?) p.(Gly1216Arg) Unknown - VUS g.48032846G>A g.47805707G>A - - MSH6_000030 - - - - Unknown yes - - 0 - DNA SEQ - - CRC - - - - - - - - 0 - - 1 Jonathan S. Berg
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