Deletion | NM_000314.8(PTEN):c.968del (p.Asn323fs) | PTEN | Pathogenic | 10 | 89720812 | 89720812 | CA | C | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000314.8(PTEN):c.968dup (p.Asn323fs) | PTEN | Pathogenic | 10 | 89720811 | 89720812 | C | CA | criteria provided, multiple submitters, no conflicts | ClinGen:CA270877 |
single nucleotide variant | NM_000314.8(PTEN):c.959T>A (p.Leu320Ter) | PTEN | Pathogenic | 10 | 89720808 | 89720808 | T | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000314.8(PTEN):c.959T>G (p.Leu320Ter) | PTEN | Pathogenic | 10 | 89720808 | 89720808 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA377485997 |
Deletion | NM_000314.8(PTEN):c.956_959del (p.Thr319fs) | PTEN | Pathogenic | 10 | 89720805 | 89720808 | ACTTT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA000647 |
Deletion | NM_000314.8(PTEN):c.956_960del (p.Thr319fs) | PTEN | Pathogenic | 10 | 89720802 | 89720806 | CTTACT | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000314.8(PTEN):c.959del (p.Thr319_Leu320insTer) | PTEN | Pathogenic | 10 | 89720806 | 89720806 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369476 |
Duplication | NM_000314.8(PTEN):c.955dup (p.Thr319fs) | PTEN | Pathogenic | 10 | 89720803 | 89720804 | T | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA300542 |
Deletion | NM_000314.8(PTEN):c.949del (p.Val317fs) | PTEN | Pathogenic | 10 | 89720798 | 89720798 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10578931 |
Deletion | NM_000314.8(PTEN):c.947del (p.Leu316fs) | PTEN | Pathogenic | 10 | 89720796 | 89720796 | CT | C | criteria provided, single submitter | ClinGen:CA645294059 |