single nucleotide variant | NM_000314.8(PTEN):c.19G>T (p.Glu7Ter) | PTEN | Likely pathogenic | 10 | 89624245 | 89624245 | G | T | criteria provided, single submitter | ClinGen:CA377781832 |
Deletion | NM_000314.8(PTEN):c.21_37del (p.Ile8fs) | PTEN | Pathogenic | 10 | 89624246 | 89624262 | GAGATCGTTAGCAGAAAC | G | criteria provided, single submitter | ClinGen:CA000354 |
single nucleotide variant | NM_000314.8(PTEN):c.35A>C (p.Asn12Thr) | PTEN | Pathogenic | 10 | 89624261 | 89624261 | A | C | criteria provided, single submitter | ClinGen:CA377781897 |
Duplication | NM_000314.8(PTEN):c.40dup (p.Arg14fs) | PTEN | Pathogenic | 10 | 89624262 | 89624263 | C | CA | reviewed by expert panel | ClinGen:CA254258,OMIM:601728.0022 |
Deletion | NM_000314.8(PTEN):c.39_40del (p.Arg14fs) | PTEN | Pathogenic/Likely pathogenic | 10 | 89624263 | 89624264 | CAA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658657994 |
single nucleotide variant | NM_000314.8(PTEN):c.37A>T (p.Lys13Ter) | PTEN | Pathogenic | 10 | 89624263 | 89624263 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA377781906 |
Deletion | NM_000314.8(PTEN):c.42del (p.Arg15fs) | PTEN | Pathogenic | 10 | 89624267 | 89624267 | AG | A | criteria provided, single submitter | ClinGen:CA000157 |
single nucleotide variant | NM_000314.8(PTEN):c.44G>A (p.Arg15Lys) | PTEN | Likely pathogenic | 10 | 89624270 | 89624270 | G | A | reviewed by expert panel | ClinGen:CA16613142 |
Duplication | NM_000314.8(PTEN):c.46dup (p.Tyr16fs) | PTEN | Pathogenic | 10 | 89624271 | 89624272 | A | AT | criteria provided, multiple submitters, no conflicts | ClinGen:CA300537 |
single nucleotide variant | NM_000314.8(PTEN):c.45A>T (p.Arg15Ser) | PTEN | Pathogenic/Likely pathogenic | 10 | 89624271 | 89624271 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16619041 |