All variants in the PMS2 gene


PMS2 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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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_000535.5 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/+ _1_15_ c.(?_-87)_(*160_?)del r.0? p.0? - pathogenic g.(?_6012870)_(6048737_?)del - - - PMS2_000007 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? - pathogenic g.(?_6012870)_(6048737_?)del - del ex1_15 - PMS2_000007 - PubMed: van der Klift 2005, PubMed: Hendriks 2006 - - Germline - - - 0 - Juul Wijnen
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? - pathogenic g.(?_6012870)_(6048737_?)del - Deletion of Exon 1-15 - PMS2_000007 - PubMed: Senter 2008; PubMed: Tomsic 2012 - - Germline - - - 0 - Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? - pathogenic g.(?_6012870)_(6048737_?)del - Deletion of Exon 1-15 - PMS2_000007 - PubMed: Senter 2008; PubMed: Tomsic 2012 - - Germline - - - 0 - Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? - pathogenic g.(?_6012870)_(6048737_?)del - deletion of Exon1-15 and duplication of 3' related gene (c.1-?_2589?del). - PMS2_000007 - PubMed: Hendriks 2006 - - Germline - - - 0 - Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? - pathogenic g.(?_6012870)_(6048737_?)del - Deletion of PMS2 - PMS2_000007 - PubMed: Overbeek 2007; PubMed: Tomsic 2012 - - Germline - - - 0 - Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? - pathogenic g.(?_6012870)_(6048737_?)del - del ex 1-15, dupPMS2CL - PMS2_000007 - PubMed: van der Klift 2010 - - Germline - - - 0 - Carli Tops
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? - pathogenic g.(?_6012870)_(6048737_?)del - PMS2 exon 1-15 del - PMS2_000007 - PubMed: Thompson 2013; PubMed: Tomsic 2012; PubMed: Senter 2008 - - Germline - - - 0 - Mark Jenkins
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? - pathogenic g.(?_6012870)_(6048737_?)del - MLH1:c.198C>T; PMS2:c.(?_-87)_(*160_?)del - PMS2_000007 - Mark Jenkins - - Germline - - - 0 - INSiGHT group
+/. _1_15_ c.(?_-87)_(*160_?)del r.? p.? - pathogenic g.(?_6012870)_(6048737_?)del - c.1-?_2586+?del Whole gene deletion - PMS2_000007 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
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