Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000314.8(PTEN):c.242T>G (p.Phe81Cys) | PTEN | Likely pathogenic | 10 | 89690835 | 89690835 | T | G | criteria provided, single submitter | ClinGen:CA10577417 |
single nucleotide variant | NM_000314.8(PTEN):c.67T>G (p.Leu23Val) | PTEN | Likely pathogenic | 10 | 89624293 | 89624293 | T | G | reviewed by expert panel | - |
single nucleotide variant | NM_000314.8(PTEN):c.486C>G (p.Asp162Glu) | PTEN | Likely pathogenic | 10 | 89693002 | 89693002 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA357794 |
single nucleotide variant | NM_000314.8(PTEN):c.740T>C (p.Leu247Ser) | PTEN | Likely pathogenic | 10 | 89717715 | 89717715 | T | C | reviewed by expert panel | ClinGen:CA16044135 |
single nucleotide variant | NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys) | PTEN | Likely pathogenic | 10 | 89711903 | 89711903 | A | G | reviewed by expert panel | ClinGen:CA349032 |
single nucleotide variant | NM_000314.8(PTEN):c.422A>C (p.His141Pro) | PTEN | Likely pathogenic | 10 | 89692938 | 89692938 | A | C | reviewed by expert panel | ClinGen:CA337448 |
single nucleotide variant | NM_000314.8(PTEN):c.610C>G (p.Pro204Ala) | PTEN | Likely pathogenic | 10 | 89711992 | 89711992 | C | G | reviewed by expert panel | ClinGen:CA000535 |
single nucleotide variant | NM_000314.8(PTEN):c.320A>G (p.Asp107Gly) | PTEN | Likely pathogenic | 10 | 89692836 | 89692836 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000314.8(PTEN):c.277C>G (p.His93Asp) | PTEN | Likely pathogenic | 10 | 89692793 | 89692793 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000314.8(PTEN):c.80-1G>C | PTEN | Likely pathogenic | 10 | 89653781 | 89653781 | G | C | reviewed by expert panel | ClinGen:CA000586 |