Deletion | NM_000535.7(PMS2):c.2533del (p.His845fs) | PMS2 | Pathogenic/Likely pathogenic | 7 | 6013086 | 6013086 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618484 |
single nucleotide variant | NM_000535.7(PMS2):c.2531C>A (p.Pro844His) | PMS2 | Likely pathogenic | 7 | 6013088 | 6013088 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA011663 |
single nucleotide variant | NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter) | PMS2 | Pathogenic/Likely pathogenic | 7 | 6013097 | 6013097 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10577334 |
single nucleotide variant | NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter) | PMS2 | Pathogenic/Likely pathogenic | 7 | 6013113 | 6013113 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA011600 |
Indel | NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) | PMS2 | Pathogenic | 7 | 6013118 | 6013119 | AT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA011585 |
Deletion | NM_000535.7(PMS2):c.2500_2501del (p.Met834fs) | PMS2 | Likely pathogenic | 7 | 6013118 | 6013119 | CAT | C | criteria provided, single submitter | ClinGen:CA10577330 |
Duplication | NM_000535.7(PMS2):c.2458dup (p.Thr820fs) | PMS2 | Pathogenic | 7 | 6013160 | 6013161 | G | GT | criteria provided, single submitter | ClinGen:CA645372835 |
single nucleotide variant | NM_000535.7(PMS2):c.2446-1G>T | PMS2 | Likely pathogenic | 7 | 6013174 | 6013174 | C | A | criteria provided, single submitter | ClinGen:CA10578640 |
single nucleotide variant | NM_000535.7(PMS2):c.2446-2A>G | PMS2 | Likely pathogenic | 7 | 6013175 | 6013175 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588431 |
Deletion | NC_000007.14:g.(?_5973393)_(5973548_?)del | PMS2 | Pathogenic | 7 | 6013024 | 6013179 | na | na | criteria provided, single submitter | - |