Full data view for gene PMS2


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 We encourage submission of relevant unpublished information to assist in the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_000535.5 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.24_163del p.Ser8Argfs*5 Unknown g.6045579_6045674delinsATTT - - - PMS2_000205 96bp deletion across intron1-exon2 border PubMed: van der Klift 2010 - - Germline - - - 0 - DNA, RNA MLPA, RT-PCR, SEQ - - cancer, endometrial - - - F - Netherlands - - 0 - - 1 Carli Tops
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.24_163del p.Ser8Argfs*5 Unknown g.6045579_6045674delinsATTT - - - PMS2_000205 96bp deletion across intron1-exon2 border PubMed: van der Klift 2010 - - Germline - - - 0 - DNA MLPA, PCR, SEQ - - ? - - healthy parent, no material son (C33, ihc pms2-) available.;InSiGHT LOVDv2 ID:1011008; F - Netherlands - - 0 - - 1 Carli Tops
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.?/(p.Ser8ArgfsX5) Unknown g.6045579_6045674delinsATTT - c.24-12_107delinsAAAT - PMS2_000205 96bp deletion acros intron1-exon2 border Carli Tops - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.?/(p.Ser8ArgfsX5) Unknown g.6045579_6045674delinsATTT - c.24-12_107delinsAAAT - PMS2_000205 96bp deletion acros intron1-exon2 border Carli Tops - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.?/(p.Ser8ArgfsX5) Unknown g.6045579_6045674delinsATTT - c.24-12_107delinsAAAT - PMS2_000205 - Carli Tops - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.?/(p.Ser8ArgfsX5) Unknown g.6045579_6045674delinsATTT - c.24-12_107delinsAAAT - PMS2_000205 - Carli Tops - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.?/(p.Ser8ArgfsX5) Unknown g.6045579_6045674delinsATTT - c.24-12_107delinsAAAT - PMS2_000205 - Carli Tops - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.? Unknown g.6045579_6045674delinsATTT - PMS2:c.24-12_107delinsAAAT - PMS2_000205 - Fiona Lalloo - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.? p.? Unknown g.6045579_6045674delinsATTT - - - PMS2_000205 ICCON data, Westmead, NSW - - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
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