Deletion | NM_000314.8(PTEN):c.1026+1del | PTEN | Likely pathogenic | 10 | 89720875 | 89720875 | AG | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000314.8(PTEN):c.331T>C (p.Trp111Arg) | PTEN | Likely pathogenic | 10 | 89692847 | 89692847 | T | C | reviewed by expert panel | ClinGen:CA000401 |
single nucleotide variant | NM_000314.8(PTEN):c.463T>A (p.Tyr155Asn) | PTEN | Likely pathogenic | 10 | 89692979 | 89692979 | T | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000314.8(PTEN):c.379G>A (p.Gly127Arg) | PTEN | Likely pathogenic | 10 | 89692895 | 89692895 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA000426 |
single nucleotide variant | NM_000314.8(PTEN):c.520T>A (p.Tyr174Asn) | PTEN | Likely pathogenic | 10 | 89711902 | 89711902 | T | A | reviewed by expert panel | ClinGen:CA000501,UniProtKB:P60484#VAR_026270 |
single nucleotide variant | NM_000314.8(PTEN):c.314G>A (p.Cys105Tyr) | PTEN | Likely pathogenic | 10 | 89692830 | 89692830 | G | A | reviewed by expert panel | ClinGen:CA000393,UniProtKB:P60484#VAR_008735 |
single nucleotide variant | NM_000314.8(PTEN):c.598T>G (p.Phe200Val) | PTEN | Likely pathogenic | 10 | 89711980 | 89711980 | T | G | criteria provided, single submitter | ClinGen:CA000531 |
single nucleotide variant | NM_000314.8(PTEN):c.165-1G>A | PTEN | Likely pathogenic | 10 | 89685269 | 89685269 | G | A | reviewed by expert panel | ClinGen:CA000129 |
single nucleotide variant | NM_000314.8(PTEN):c.170T>G (p.Leu57Trp) | PTEN | Likely pathogenic | 10 | 89685275 | 89685275 | T | G | reviewed by expert panel | ClinGen:CA000131,UniProtKB:P60484#VAR_007460 |
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 |