Deletion | NC_000010.11:g.(?_87894015)_(87965482_?)del | PTEN | Pathogenic | 10 | 89653772 | 89725239 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000314.8(PTEN):c.1212A>G (p.Ter404Trp) | PTEN | Likely pathogenic | 10 | 89725229 | 89725229 | A | G | criteria provided, single submitter | ClinGen:CA377487507 |
single nucleotide variant | NM_000314.8(PTEN):c.1212A>T (p.Ter404Cys) | PTEN | Pathogenic | 10 | 89725229 | 89725229 | A | T | reviewed by expert panel | ClinGen:CA10578936 |
Insertion | NM_000314.8(PTEN):c.1127_1128insAT (p.His376fs) | PTEN | Likely pathogenic | 10 | 89725144 | 89725145 | A | AAT | criteria provided, single submitter | ClinGen:CA658657984 |
Deletion | NM_000314.8(PTEN):c.1116_1119del (p.Glu373fs) | PTEN | Pathogenic/Likely pathogenic | 10 | 89725131 | 89725134 | CAATG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658657983 |
Duplication | NM_000314.8(PTEN):c.1048dup (p.Thr350fs) | PTEN | Pathogenic | 10 | 89725060 | 89725061 | C | CA | criteria provided, single submitter | ClinGen:CA250392 |
Deletion | NM_000314.8(PTEN):c.1029_1039del (p.Lys344fs) | PTEN | Pathogenic/Likely pathogenic | 10 | 89725045 | 89725055 | GTGAAGCTGTAC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16619070 |
single nucleotide variant | NM_000314.8(PTEN):c.1034T>C (p.Leu345Pro) | PTEN | Pathogenic | 10 | 89725051 | 89725051 | T | C | reviewed by expert panel | ClinGen:CA377487108 |
single nucleotide variant | NM_000314.8(PTEN):c.1027-1G>C | PTEN | Pathogenic | 10 | 89725043 | 89725043 | G | C | criteria provided, single submitter | ClinGen:CA377487091 |
single nucleotide variant | NM_000314.8(PTEN):c.1027-1G>A | PTEN | Pathogenic | 10 | 89725043 | 89725043 | G | A | reviewed by expert panel | ClinGen:CA16042723 |