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 |
Duplication | NM_000314.8(PTEN):c.69dup (p.Asp24fs) | PTEN | Pathogenic | 10 | 89624294 | 89624295 | T | TA | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000314.8(PTEN):c.70G>A (p.Asp24Asn) | PTEN | Pathogenic/Likely pathogenic | 10 | 89624296 | 89624296 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA000185 |
single nucleotide variant | NM_000314.8(PTEN):c.70G>T (p.Asp24Tyr) | PTEN | Pathogenic | 10 | 89624296 | 89624296 | G | T | criteria provided, single submitter | ClinGen:CA000552 |
Deletion | NM_000314.8(PTEN):c.70del (p.Asp24fs) | PTEN | Pathogenic | 10 | 89624296 | 89624296 | AG | A | criteria provided, single submitter | - |