Variants
PMS2 variants
Predicted effect: Start lost. 5 of the 166 PMS2 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| c.1A>G | Exon 1 | 6,009,019 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1A>T | Exon 1 | 6,009,019 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.2T>A | Exon 1 | 6,009,018 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.2T>C | Exon 1 | 6,009,018 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.2T>G | Exon 1 | 6,009,018 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |