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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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_000535.6 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+?/. 14i_15_ c.(2445+1_2446-1)_(*160_?)del r.(?) p.? - likely pathogenic g.(?_6012870)_(6013174_6017218)del - Dosage reduction ~0.75 - PMS2_000335 Dosage drop, detected by comparative read depth analysis and MLPA. Not unequivocally assignable to PMS2 or PMS2CL on this basis, but equivalent cases have been resolved with further testing in the literature; odds in favour of PMS2 involvement. - - - Unknown - - - 0 - Ian Berry
+?/. 14i_15_ c.(2445+1_2446-1)_(*160_?)del r.(?) p.? - likely pathogenic g.(?_6012870)_(6013174_6017218)del - Dosage reduction ~0.75 - PMS2_000335 Dosage drop, detected by comparative read depth analysis and MLPA. Not unequivocally assignable to PMS2 or PMS2CL on this basis, but equivalent cases have been resolved with further testing in the literature; odds in favour of PMS2 involvement. - - - Unknown - - - 0 - Ian Berry
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