single nucleotide variant | NM_000546.6(TP53):c.592G>T (p.Glu198Ter) | TP53 | Pathogenic | 17 | 7578257 | 7578257 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000546.6(TP53):c.548C>G (p.Ser183Ter) | TP53 | Pathogenic | 17 | 7578382 | 7578382 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000546.6(TP53):c.511G>T (p.Glu171Ter) | TP53 | Pathogenic | 17 | 7578419 | 7578419 | C | A | criteria provided, single submitter | - |
Deletion | NM_000546.6(TP53):c.455del (p.Pro152fs) | TP53 | Pathogenic | 17 | 7578475 | 7578475 | CG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000546.6(TP53):c.437G>A (p.Trp146Ter) | TP53 | Pathogenic | 17 | 7578493 | 7578493 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000546.6(TP53):c.430C>T (p.Gln144Ter) | TP53 | Pathogenic | 17 | 7578500 | 7578500 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000546.6(TP53):c.396G>T (p.Lys132Asn) | TP53 | Pathogenic/Likely pathogenic | 17 | 7578534 | 7578534 | C | A | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000546.6(TP53):c.371dup (p.Cys124fs) | TP53 | Pathogenic | 17 | 7579315 | 7579316 | G | GC | criteria provided, single submitter | - |
single nucleotide variant | NM_000546.6(TP53):c.314G>T (p.Gly105Val) | TP53 | Likely pathogenic | 17 | 7579373 | 7579373 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000546.6(TP53):c.298C>T (p.Gln100Ter) | TP53 | Pathogenic/Likely pathogenic | 17 | 7579389 | 7579389 | G | A | criteria provided, multiple submitters, no conflicts | - |