Variants
PMS2 variants
Predicted effect: In-frame insertion or deletion. The one PMS2 variant of the 166 with a page here. Its page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| L42_E44del | c.123_131del | Exon 2 | 6,005,923 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |