All transcript variants in gene MSH2


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 We encourage submission of relevant unpublished information to assist in the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_000251.2 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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     
+/-? - c.4G>A pathogenic r.(?) p.(Ala2Thr) g.47630334G>A g.47403195G>A - - MSH2_000276 - - - - Germline - - - 0 - Andreas Laner
-?/-? 1 c.4G>A InSiGHT: 2 r.4g>a p.Ala2Thr g.47630334G>A - - - MSH2_000276 Insight class: 2 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.4G>A VUS r.4g>a p.Ala2Thr g.47630334G>A - - - MSH2_000276 - PubMed: Mangold 2005; PubMed: Mangold 2005 - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
?/. 1 c.4G>A VUS r.4g>a p.Ala2Thr g.47630334G>A - - - MSH2_000276 - PubMed: Lucci-Cordisco 2006 - - Germline - - - 0 - Michael Woods
?/. 1 c.4G>A VUS r.4g>a p.Ala2Thr g.47630334G>A - - - MSH2_000276 - PubMed: Mangold 2005; PubMed: Mangold 2005 - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
?/. 1 c.4G>A VUS r.4g>a p.Ala2Thr g.47630334G>A - G>A at 4 - MSH2_000276 - Myriad et al., - - Germline - - - 0 - INSiGHT group
?/. 1 c.4G>A VUS r.4g>a p.Ala2Thr g.47630334G>A - - - MSH2_000276 - PubMed: Mangold 2005; PubMed: Nagasaka 2010 - - Germline - - - 0 - Beate Dr. Betz
?/. 1 c.4G>A VUS r.4g>a p.Ala2Thr g.47630334G>A - - - MSH2_000276 - PubMed: Mangold 2005 - - Germline - - - 0 - Beate Dr. Betz
?/. 1 c.4G>A VUS r.4g>a p.Ala2Thr g.47630334G>A - - - MSH2_000276 - - - - Germline - - - 0 - Rolf Sijmons
-?/. 1 c.4G>A likely benign r.4g>a p.Ala2Thr g.47630334G>A - A2T - MSH2_000276 {GR:344} PubMed: Lastella 2006 - - Unknown - - - 0 - Rolf Sijmons
-?/. 1 c.4G>A likely benign r.4g>a p.Ala2Thr g.47630334G>A - A2T - MSH2_000276 {GR:344} PubMed: Lastella 2006 - - Unknown - - - 0 - Rolf Sijmons
-?/. 1 c.4G>A likely benign r.4g>a p.Ala2Thr g.47630334G>A - A2T - MSH2_000276 {GR:344} PubMed: Lastella 2006 - - Unknown - - - 0 - Rolf Sijmons
-?/. 1 c.4G>A likely benign r.4g>a p.Ala2Thr g.47630334G>A - A2T - MSH2_000276 {GR:344} PubMed: Lucci-Cordisco 2006 - - Unknown - - - 0 - Rolf Sijmons
-?/. 1 c.4G>A likely benign r.4g>a p.Ala2Thr g.47630334G>A - A2T - MSH2_000276 {GR:344} PubMed: Lucci-Cordisco 2006 - - Unknown - - - 0 - Rolf Sijmons
?/. 1 c.4G>A VUS r.4g>a p.Ala2Thr g.47630334G>A - - - MSH2_000276 - PubMed: Pagenstecher 2006 - - Germline - - - 0 - Michael Woods
?/. 1 c.4G>A VUS r.4g>a p.Ala2Thr g.47630334G>A - - - MSH2_000276 - PubMed: Mangold 2005 - - Germline - - - 0 - Michael Woods
?/. 1 c.4G>A VUS r.4g>a p.Ala2Thr g.47630334G>A - - - MSH2_000276 - PubMed: Kurzawski 2006 - - Germline - - - 0 - Michael Woods
?/-? 1 c.4G>A VUS r.4g>a p.Ala2Thr g.47630334G>A - - - MSH2_000276 - - - - Germline - - - 0 - Amie Blanco
?/. 1 c.4G>A VUS r.4g>a p.Ala2Thr g.47630334G>A - - - MSH2_000276 - PubMed: Mangold 2005 - - Germline - - - 0 - Amie Blanco
?/. 1 c.4G>A VUS r.4g>a p.Ala2Thr g.47630334G>A - - - MSH2_000276 - PubMed: Mangold 2005 - - Germline - - - 0 - Amie Blanco
?/. 1 c.4G>A VUS r.4g>a p.Ala2Thr g.47630334G>A - - - MSH2_000276 - - - - Germline - - - 0 - Amie Blanco
-?/. - c.4G>A likely benign r.(?) p.(Ala2Thr) g.47630334G>A - MSH2(NM_000251.2):c.4G>A (p.A2T) - MSH2_000276 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.4G>A VUS r.(?) p.(Ala2Thr) g.47630334G>A - MSH2(NM_000251.2):c.4G>A (p.A2T) - MSH2_000276 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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