single nucleotide variant | NM_000314.8(PTEN):c.500C>A (p.Thr167Asn) | PTEN | Likely pathogenic | 10 | 89711882 | 89711882 | C | A | reviewed by expert panel | ClinGen:CA000487,UniProtKB:P60484#VAR_076763,OMIM:601728.0042 |
single nucleotide variant | NM_000314.8(PTEN):c.722T>C (p.Phe241Ser) | PTEN | Likely pathogenic | 10 | 89717697 | 89717697 | T | C | reviewed by expert panel | ClinGen:CA000555,UniProtKB:P60484#VAR_032636,OMIM:601728.0039 |
single nucleotide variant | NM_000314.8(PTEN):c.755A>G (p.Asp252Gly) | PTEN | Likely pathogenic | 10 | 89717730 | 89717730 | A | G | reviewed by expert panel | ClinGen:CA000564,UniProtKB:P60484#VAR_032637,OMIM:601728.0038 |
single nucleotide variant | NM_000314.8(PTEN):c.181C>G (p.His61Asp) | PTEN | Likely pathogenic | 10 | 89685286 | 89685286 | C | G | reviewed by expert panel | ClinGen:CA000330,UniProtKB:P60484#VAR_018101,OMIM:601728.0030 |
Deletion | NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs) | PTEN | Likely pathogenic | 10 | 89720650 | 89720650 | AG | A | reviewed by expert panel | ClinGen:CA000595,OMIM:601728.0027 |
single nucleotide variant | NM_000314.8(PTEN):c.564T>A (p.Tyr188Ter) | PTEN | Likely pathogenic | 10 | 89711946 | 89711946 | T | A | reviewed by expert panel | ClinGen:CA000521,COSMIC:COSM1133053,OMIM:601728.0019 |
Deletion | NM_000314.8(PTEN):c.761_765del (p.Lys254fs) | PTEN | Likely pathogenic | 10 | 89717735 | 89717739 | CAAAGT | C | reviewed by expert panel | ClinGen:CA000566,COSMIC:COSM4933,OMIM:601728.0018 |
single nucleotide variant | NM_000314.8(PTEN):c.209T>C (p.Leu70Pro) | PTEN | Likely pathogenic | 10 | 89685314 | 89685314 | T | C | reviewed by expert panel | ClinGen:CA000350,UniProtKB:P60484#VAR_018102,OMIM:601728.0012 |
Deletion | NM_000314.8(PTEN):c.696del (p.Arg233fs) | PTEN | Likely pathogenic | 10 | 89717671 | 89717671 | CA | C | reviewed by expert panel | ClinGen:CA000548,OMIM:601728.0010 |
single nucleotide variant | NM_000314.8(PTEN):c.492+2T>G | PTEN | Likely pathogenic | 10 | 89693010 | 89693010 | T | G | reviewed by expert panel | ClinGen:CA000475,OMIM:601728.0009 |