Duplication | NM_000314.8(PTEN):c.1006dup (p.Tyr336fs) | PTEN | Pathogenic | 10 | 89720854 | 89720855 | A | AT | criteria provided, single submitter | ClinGen:CA658656126 |
single nucleotide variant | NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) | PTEN | Pathogenic | 10 | 89720852 | 89720852 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA000245,OMIM:601728.0021 |
Duplication | NM_000314.8(PTEN):c.996dup (p.Ala333fs) | PTEN | Pathogenic | 10 | 89720842 | 89720843 | C | CA | criteria provided, single submitter | ClinGen:CA645554132 |
Duplication | NM_000314.8(PTEN):c.993_994dup (p.Lys332fs) | PTEN | Pathogenic | 10 | 89720840 | 89720841 | G | GAC | criteria provided, single submitter | ClinGen:CA645369479 |
Deletion | NM_000314.8(PTEN):c.991_992del (p.Asp331fs) | PTEN | Pathogenic | 10 | 89720839 | 89720840 | AAG | A | criteria provided, single submitter | ClinGen:CA658656125 |
Indel | NM_000314.8(PTEN):c.975_988delinsCGCTT (p.Asp326_Lys330delinsAlaTer) | PTEN | Pathogenic/Likely pathogenic | 10 | 89720824 | 89720837 | TGACAAAGCAAATA | CGCTT | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369478 |
Deletion | NM_000314.8(PTEN):c.987_990del (p.Asn329fs) | PTEN | Pathogenic | 10 | 89720833 | 89720836 | CAAAT | C | reviewed by expert panel | ClinGen:CA000656 |
Duplication | NM_000314.8(PTEN):c.987_996dup (p.Ala333Ter) | PTEN | Pathogenic | 10 | 89720831 | 89720832 | G | GCAAATAAAGA | criteria provided, single submitter | ClinGen:CA350854 |
Deletion | NM_000314.8(PTEN):c.973del (p.Asp326fs) | PTEN | Pathogenic | 10 | 89720822 | 89720822 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656124 |
single nucleotide variant | NM_000314.8(PTEN):c.964A>T (p.Lys322Ter) | PTEN | Likely pathogenic | 10 | 89720813 | 89720813 | A | T | reviewed by expert panel | ClinGen:CA000235 |