single nucleotide variant | NM_000314.8(PTEN):c.45A>C (p.Arg15Ser) | PTEN | Pathogenic/Likely pathogenic | 10 | 89624271 | 89624271 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA377781935 |
Duplication | NM_000314.8(PTEN):c.47dup (p.Tyr16Ter) | PTEN | Pathogenic | 10 | 89624272 | 89624273 | T | TA | criteria provided, single submitter | ClinGen:CA10577413 |
single nucleotide variant | NM_000314.8(PTEN):c.46T>G (p.Tyr16Asp) | PTEN | Likely pathogenic | 10 | 89624272 | 89624272 | T | G | criteria provided, single submitter | ClinGen:CA16619042 |
single nucleotide variant | NM_000314.8(PTEN):c.48T>A (p.Tyr16Ter) | PTEN | Pathogenic | 10 | 89624274 | 89624274 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA000471 |
single nucleotide variant | NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter) | PTEN | Pathogenic | 10 | 89624274 | 89624274 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA377781944 |
single nucleotide variant | NM_000314.8(PTEN):c.49C>T (p.Gln17Ter) | PTEN | Pathogenic | 10 | 89624275 | 89624275 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA000485 |
Deletion | NM_000314.8(PTEN):c.50_51del (p.Gln17fs) | PTEN | Pathogenic | 10 | 89624276 | 89624277 | CAA | C | reviewed by expert panel | ClinGen:CA000167 |
Deletion | NM_000314.8(PTEN):c.53del (p.Glu18fs) | PTEN | Pathogenic | 10 | 89624279 | 89624279 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10582753 |
single nucleotide variant | NM_000314.8(PTEN):c.67T>G (p.Leu23Val) | PTEN | Likely pathogenic | 10 | 89624293 | 89624293 | T | G | reviewed by expert panel | - |
Deletion | NM_000314.8(PTEN):c.68del (p.Asp22_Leu23insTer) | PTEN | Pathogenic | 10 | 89624293 | 89624293 | CT | C | criteria provided, single submitter | ClinGen:CA658657996 |