single nucleotide variant | NM_000314.8(PTEN):c.945T>A (p.Tyr315Ter) | PTEN | Pathogenic | 10 | 89720794 | 89720794 | T | A | criteria provided, single submitter | ClinGen:CA10577421 |
Duplication | NM_000314.8(PTEN):c.942_949dup (p.Val317delinsAspIleTer) | PTEN | Pathogenic | 10 | 89720790 | 89720791 | A | AATATCTAG | criteria provided, single submitter | ClinGen:CA645369472 |
single nucleotide variant | NM_000314.8(PTEN):c.940G>T (p.Glu314Ter) | PTEN | Pathogenic | 10 | 89720789 | 89720789 | G | T | criteria provided, single submitter | ClinGen:CA377485931 |
Deletion | NM_000314.8(PTEN):c.938del (p.Lys313fs) | PTEN | Pathogenic | 10 | 89720786 | 89720786 | CA | C | criteria provided, single submitter | ClinGen:CA470974018 |
single nucleotide variant | NM_000314.8(PTEN):c.929A>G (p.Asp310Gly) | PTEN | Likely pathogenic | 10 | 89720778 | 89720778 | A | G | criteria provided, multiple submitters, no conflicts | - |
Insertion | NM_000314.8(PTEN):c.928_929insTT (p.Asp310fs) | PTEN | Pathogenic | 10 | 89720777 | 89720778 | G | GTT | criteria provided, single submitter | ClinGen:CA658656121 |
Insertion | NM_000314.8(PTEN):c.928_929insGTGCA (p.Asp310fs) | PTEN | Pathogenic | 10 | 89720777 | 89720778 | G | GGTGCA | criteria provided, single submitter | ClinGen:CA000639 |
single nucleotide variant | NM_000314.8(PTEN):c.919G>T (p.Glu307Ter) | PTEN | Pathogenic | 10 | 89720768 | 89720768 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA000633 |
Duplication | NM_000314.8(PTEN):c.917dup (p.Glu307fs) | PTEN | Pathogenic | 10 | 89720765 | 89720766 | A | AT | criteria provided, single submitter | ClinGen:CA658656119 |
Deletion | NM_000314.8(PTEN):c.914del (p.Ser305fs) | PTEN | Pathogenic | 10 | 89720763 | 89720763 | AG | A | criteria provided, single submitter | ClinGen:CA645369471 |