Full data view for gene MSH2


MSH2 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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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_000251.2 transcript reference sequence.

174 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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.2006-6T>C r.(=) p.(=) Unknown - benign g.47703500T>C g.47476361T>C MSH2(NM_000251.2):c.2006-6T>C, MSH2(NM_000251.3):c.2006-6T>C - MSH2_000571 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2006-6T>C r.(=) p.(=) Unknown - benign g.47703500T>C g.47476361T>C MSH2(NM_000251.2):c.2006-6T>C, MSH2(NM_000251.3):c.2006-6T>C - MSH2_000571 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2006-6T>C r.(=) p.(=) Unknown - benign g.47703500T>C g.47476361T>C MSH2(NM_000251.2):c.2006-6T>C, MSH2(NM_000251.3):c.2006-6T>C - MSH2_000571 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2006-6T>C r.(=) p.(=) Unknown - benign g.47703500T>C g.47476361T>C MSH2(NM_000251.2):c.2006-6T>C, MSH2(NM_000251.3):c.2006-6T>C - MSH2_000571 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 12i c.2006-6T>C r.spl? p.(=) Unknown InSiGHT benign g.47703500T>C g.47476361T>C - - MSH2_000571 Insight class: 1 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 - Kristina Lagerstedt Robinson - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 MSH6 variants: c.116G>A (p.G39E) het.MSH2 seq reported 10.10.07. Seq variants: c.211+9C>G. c.1661+6T>C and c.2006-6T>C (HOM). NOT prev reported and clinical sig uncertain c.2634+12T>C (Het).H1/H2 MLPA rep 20/12/08 Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 Endometrial Ca @35. IHC absent MSH2/MSH6.MSH2 polys: c.211+9C>G (hom), c.1661-12T>C (hom). C.2006-6T>C (het). EPCAM also normal on MLPA.Reported 3/12/10. Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 Authors describe this as a splice site mutation. PubMed: Park 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 Authors describe this as a splice site mutation. PubMed: Park 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C MSH2 negative seq and mlpa 08/08/09.1077-10T>C, 1661+12G>A, 2006-6T>C - MSH2_000571 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C 1777C>T hetero; 2006-6T>C hetero; 1077-10T>C hetero - MSH2_000571 - Gabriel Capellá and Ignacio Blanco - - Germline - - - - - DNA SEQ, MLPA - - CRC - - - F - - - - - - - 1 INSiGHT group
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C Sebaceous Epithelioma 1661+12G>A and 2006-6T>C (het). - MSH2_000571 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C 2006-6T>C + 2006G>T (2006G>T segregates with phenotype) - MSH2_000571 - Maurizio Genuardi - - Germline - - - - - DNA SEQ - - CRC - - - F - - - - - - - 1 INSiGHT group
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C 2006-6T>C + 2006G>T - MSH2_000571 - Maurizio Genuardi - - Germline - - - - - DNA SEQ - - CRC - - - M - - - - - - - 1 INSiGHT group
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 Authors describe this as a splice site mutation. PubMed: Park 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 Authors describe this as a SNP (rs2303428) associated with an increased risk of endometrial cancer. PubMed: Beiner 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C 2006-6T>C - MSH2_000571 - Kristina Lagerstedt Robinson - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 12i c.2006-6T>C r.spl? p.(=) Parent #1 - VUS g.47703500T>C g.47476361T>C g.73237, it is g.73238. - MSH2_000571 - PubMed: Rubio-Del-Campo 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Parent #2 - VUS g.47703500T>C g.47476361T>C g.73237, it is g.73238. - MSH2_000571 - PubMed: Rubio-Del-Campo 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Parent #1 - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 Authors describe this variant (rs2303428) as showing no association with stomach cancer risk. PubMed: Capella 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Parent #2 - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 Authors describe this variant (rs2303428) as showing no association with stomach cancer risk. PubMed: Capella 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Parent #1 - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 Authors describe this variant (rs2303428) as having no association with survival in invasive ovarian cancer patients. PubMed: Mann 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Parent #2 - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 Authors describe this variant (rs2303428) as having no association with survival in invasive ovarian cancer patients. PubMed: Mann 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Parent #1 - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 Authors describe this variant (rs2303428) as not having an association with spordiac colorectal cancer risk in the Czech Republic population. PubMed: Tulupova 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Parent #2 - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 Authors describe this variant (rs2303428) as not having an association with spordiac colorectal cancer risk in the Czech Republic population. PubMed: Tulupova 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 12i c.2006-6T>C r.spl? p.(=) Parent #1 - benign g.47703500T>C g.47476361T>C - - MSH2_000571 Authors describe this as a mutation which results in two different transcript lengths being produced. PubMed: Muller 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 12i c.2006-6T>C r.spl? p.(=) Parent #2 - benign g.47703500T>C g.47476361T>C - - MSH2_000571 Authors describe this as a mutation which results in two different transcript lengths being produced. PubMed: Muller 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 12i c.2006-6T>C r.spl? p.(=) Parent #1 - benign g.47703500T>C g.47476361T>C -6 of 5' exon 13 T>C - MSH2_000571 - Coelho et al., - - Germline - - - - - DNA SEQ - - ? - - - ? - Portugal - - - - - 1 INSiGHT group
?/. 12i c.2006-6T>C r.spl? p.(=) Parent #1 - VUS g.47703500T>C g.47476361T>C t -> c at 2006-6 - MSH2_000571 - PubMed: Kolodner 1994, PubMed: Hall 1994 - - Germline - 0.1 - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 12i c.2006-6T>C r.spl? p.(=) Parent #1 - VUS g.47703500T>C g.47476361T>C t -> c at 2006-6 - MSH2_000571 - PubMed: Leach 1993 - - Germline - - - - - DNA SEQ - - ? - - - ? - United States - - - - - 1 INSiGHT group
?/. 12i c.2006-6T>C r.spl? p.(=) Parent #1 - VUS g.47703500T>C g.47476361T>C t -> c at 2006-6 - MSH2_000571 - PubMed: Wehner 1997 - - Germline - 0.06 - - - DNA SEQ - - ? - - - ? - Germany - - - - - 1 INSiGHT group
-/. 12i c.2006-6T>C r.spl? p.(=) Unknown - benign g.47703500T>C g.47476361T>C - - MSH2_000571 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 - PubMed: Song 2006 - - Germline - - - - - DNA ? - - cancer, ovarian - - - F - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 - PubMed: Rogan 1995 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 Authors describe this as a polymorphism with increased risk of Ulcerative Colitis PubMed: Brentnall 1995 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 - PubMed: Hall 1994 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 Aberrant Splicing PubMed: Fishel 1993 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 - PubMed: Jeon 1996 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 Somatic PubMed: Lowsky 1997 - - Somatic - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 - PubMed: Swensen 1997 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 - PubMed: Weber 1997 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 - PubMed: Goessl 1997 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 - PubMed: Percesepe 1998 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 - PubMed: Ohwada 2000 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 - PubMed: Desai 2000 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 - PubMed: Holinski-Feder 2001 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 - PubMed: Sud 2001 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 Authors describe this as a polymorphism with an increased risk of NH-Lymphomas and Ecuadorians PubMed: Mino 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 - PubMed: Palicio 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 Authors describe this as having implications in treatment of leukemia PubMed: Worrillow 2003 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 Authors describe this as a polymorphism with no Increased risk of NH-Lymphomas, Japanese PubMed: Hishida 2003 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 - PubMed: Cederquist 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 - PubMed: Jung 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 - PubMed: Wang 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 12i c.2006-6T>C r.spl? p.(=) Unknown - VUS g.47703500T>C g.47476361T>C - - MSH2_000571 - PubMed: Woods 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.