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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

189 entries on 2 pages. Showing entries 1 - 100.
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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.1661+12G>A r.(=) p.(=) Unknown - benign g.47693959G>A g.47466820G>A MSH2(NM_000251.2):c.1661+12G>A, MSH2(NM_000251.3):c.1661+12G>A - MSH2_000995 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 10i c.1661+12G>A r.(?) p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Parent #1 - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Parent #1 - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Parent #1 - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Parent #1 - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Parent #1 - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Parent #1 - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Parent #1 - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Parent #1 - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Parent #1 - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Parent #1 - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Parent #1 - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Parent #1 - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Parent #1 - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Parent #1 - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Parent #1 - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Parent #1 - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Parent #1 - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10i c.1661+12G>A r.(?) p.(=) Parent #1 - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 10i c.1661+12G>A r.spl? p.(=) Unknown InSiGHT benign g.47693959G>A g.47466820G>A - - MSH2_000995 Insight class: 1 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A - - MSH2_000995 PHx CRC @ 54y IHC absent MLH1,MSH2,PMS2 MSH6 het poly: c.3438+14A>TMLH1 reported 22/12/10. MLH1 het polys: c.655A>G, c.1668-19A>GEPCAM also neg on MLPAMSH reported 4/5/12 het polys: c.211+9C>G, 1661+12G>A Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A - - MSH2_000995 - Kristina Lagerstedt Robinson - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A - - MSH2_000995 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - c.211+9C>G (hom) & c.1511-9A>T and c.1661+12G>A (het).MSH2 Seq &MLPA reported 22/04/09c.540T>C, c.642C>T, c.3438+14 MSH6 (all het) - - - - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A - - MSH2_000995 Endometrial Ca. IHC absent MSH6. Austin Clinic.2 het seq variants: c.540T>C, c.642C>TAlso neg for EPCAM on MLPA kit P072-B1MSH2 seq + MLPA requested and reported 04/05/12. Seq variants: c.211+9C>Ghom, 1511-19A>Thet,1661+12G>Ahet. Desiree du Sart - - Germline - - - - - DNA ? - - cancer, endometrial - - - F - - - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A - - MSH2_000995 - PubMed: Park 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A - - MSH2_000995 - PubMed: Park 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Parent #1 - benign g.47693959G>A g.47466820G>A - - MSH2_000995 Functional analysis using the pCAS ex vivo splicing assay demonstrated this variant had no effect. PubMed: Tournier 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A MSH2 Seq variants: 1511-9A>T and 1661+12G>A (het). - MSH2_000995 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A MSH2 negative seq and mlpa 08/08/09.1077-10T>C, 1661+12G>A, 2006-6T>C - MSH2_000995 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A Phx & FHx. 211+9C>G, 1511-9A>T and 1661+12G>A (all hom) - MSH2_000995 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A Sebacous Adenoma. 211+9C>G, 1511-9A>T and 1661+12G>A (het). - MSH2_000995 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A Uterine tumour. IHC absent MSH2MSH2 het seq variants: 211+9C>G, 1511-9A>T, 1661+12G>AEPCAM MPLA neg - MSH2_000995 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A - - MSH2_000995 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A MSH2 seq/MLPA reported 23/01/09 het:211+9C>G, 2006-6T>C, hom: 1661+12G>A. MSH6 3438+14A>T - MSH2_000995 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A Sebaceous Epithelioma 1661+12G>A and 2006-6T>C (het). - MSH2_000995 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A - - MSH2_000995 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Parent #1 - VUS g.47693959G>A g.47466820G>A - - MSH2_000995 - PubMed: Velasco 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A - - MSH2_000995 A homozygous change (MSH2:c.1661+6T>C) and a heterozygous change (MSH2:c.1661+12A>G) were observed. Both changes have been previously reported in negative controls. Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A - - MSH2_000995 - PubMed: Buerstedde 1995 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A - - MSH2_000995 - PubMed: Buerstedde 1995 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 10i c.1661+12G>A r.spl? p.(=) Parent #1 - VUS g.47693959G>A g.47466820G>A - - MSH2_000995 - PubMed: Park 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A g.63697. - MSH2_000995 - PubMed: Rubio-Del-Campo 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 10i c.1661+12G>A r.spl? p.(=) Parent #1 - VUS g.47693959G>A g.47466820G>A g.63697. - MSH2_000995 - PubMed: Rubio-Del-Campo 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A - - MSH2_000995 - PubMed: Wijnen 1994 - - Germline - - - - - DNA SEQ - - ? - {PMID07881445:Wijnen,J. 1994} - ? - Netherlands - - - - - 1 Juul Wijnen
-/. 10i c.1661+12G>A r.spl? p.(=) Unknown - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 10i c.1661+12G>A r.spl? p.(=) Parent #1 - VUS g.47693959G>A g.47466820G>A g -> a at 1661 + 12 - MSH2_000995 - PubMed: Caldes 2002 - - Germline - - - - - DNA SEQ - - ? - - - ? - Spain - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Parent #1 - VUS g.47693959G>A g.47466820G>A g -> a at 1661 + 12 - MSH2_000995 - PubMed: Caldes 2002 - - Germline - - - - - DNA SEQ - - ? - - - ? - Spain - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Parent #1 - VUS g.47693959G>A g.47466820G>A g -> a at 1661 + 12 - MSH2_000995 - PubMed: Caldes 2002 - - Germline - - - - - DNA SEQ - - ? - - - ? - Spain - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Parent #1 - VUS g.47693959G>A g.47466820G>A g -> a at 1661 + 12 - MSH2_000995 - PubMed: Caldes 2002 - - Germline - - - - - DNA SEQ - - ? - - - ? - Spain - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Parent #1 - VUS g.47693959G>A g.47466820G>A g -> a at 1661 + 12 - MSH2_000995 - PubMed: Caldes 2002 - - Germline - - - - - DNA SEQ - - ? - - - ? - Spain - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Parent #1 - VUS g.47693959G>A g.47466820G>A g -> a at 1661 + 12 - MSH2_000995 - PubMed: Caldes 2002 - - Germline - - - - - DNA SEQ - - ? - - - ? - Spain - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Parent #1 - VUS g.47693959G>A g.47466820G>A g -> a at 1661 + 12 - MSH2_000995 - PubMed: Caldes 2002 - - Germline - - - - - DNA SEQ - - ? - - - ? - Spain - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Parent #1 - VUS g.47693959G>A g.47466820G>A g -> a at 1661 + 12 - MSH2_000995 - PubMed: Caldes 2002 - - Germline - - - - - DNA SEQ - - ? - - - ? - Spain - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Parent #1 - VUS g.47693959G>A g.47466820G>A g -> a at 1661 + 12 - MSH2_000995 - PubMed: Caldes 2002 - - Germline - - - - - DNA SEQ - - ? - - - ? - Spain - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Parent #1 - VUS g.47693959G>A g.47466820G>A g -> a at 1661 + 12 - MSH2_000995 - PubMed: Wahlberg 1997 - - Germline - 52.7 - - - DNA SEQ - - ? - - - ? - Sweden - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Parent #1 - VUS g.47693959G>A g.47466820G>A g -> a at 1661 + 12 - MSH2_000995 - PubMed: Wijnen 1994 - - Germline - 0.25 - - - DNA SEQ - - ? - - - ? - Netherlands - - - - - 1 INSiGHT group
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A 1661+13G>A in paper - MSH2_000995 - PubMed: Apessos 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A - - MSH2_000995 - PubMed: Hegde 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A - - MSH2_000995 - PubMed: Swensen 1997 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 10i c.1661+12G>A r.spl? p.(=) Unknown - VUS g.47693959G>A g.47466820G>A - - MSH2_000995 - PubMed: Percesepe 1998 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
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