single nucleotide variant | NM_000546.6(TP53):c.325T>G (p.Phe109Val) | TP53 | Likely pathogenic | 17 | 7579362 | 7579362 | A | C | criteria provided, single submitter | ClinGen:CA16608667 |
Deletion | NC_000017.11:g.(?_7668402)_(7669690_?)del | TP53 | Likely pathogenic | 17 | 7571720 | 7573008 | na | na | criteria provided, single submitter | - |
Deletion | NM_000546.6(TP53):c.283_375+21del | TP53 | Likely pathogenic | 17 | 7579291 | 7579404 | CCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16615710 |
Deletion | NM_000546.6(TP53):c.560-4_560-2del | TP53 | Likely pathogenic | 17 | 7578291 | 7578293 | CTAA | C | criteria provided, single submitter | ClinGen:CA16615727 |
single nucleotide variant | NM_000546.6(TP53):c.569C>T (p.Pro190Leu) | TP53 | Likely pathogenic | 17 | 7578280 | 7578280 | G | A | reviewed by expert panel | ClinGen:CA16620625 |
single nucleotide variant | NM_000546.6(TP53):c.1000G>T (p.Gly334Trp) | TP53 | Likely pathogenic | 17 | 7574027 | 7574027 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA397832878 |
single nucleotide variant | NM_000546.6(TP53):c.993G>A (p.Gln331=) | TP53 | Likely pathogenic | 17 | 7576853 | 7576853 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10590137 |
single nucleotide variant | NM_000546.6(TP53):c.919+1G>C | TP53 | Likely pathogenic | 17 | 7577018 | 7577018 | C | G | criteria provided, single submitter | ClinGen:CA397836244 |
Duplication | NM_000546.6(TP53):c.96+2dup | TP53 | Likely pathogenic | 17 | 7579697 | 7579698 | T | TA | criteria provided, single submitter | ClinGen:CA645369699 |
single nucleotide variant | NM_000546.6(TP53):c.75-2A>G | TP53 | Likely pathogenic | 17 | 7579723 | 7579723 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA397848502 |