single nucleotide variant | NM_000546.6(TP53):c.993+2T>G | TP53 | Likely pathogenic | 17 | 7576851 | 7576851 | A | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000546.6(TP53):c.375+1G>A | TP53 | Pathogenic/Likely pathogenic | 17 | 7579311 | 7579311 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000546.6(TP53):c.560-1G>A | TP53 | Pathogenic | 17 | 7578290 | 7578290 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000546.6(TP53):c.782+1G>A | TP53 | Pathogenic | 17 | 7577498 | 7577498 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000546.6(TP53):c.783-1G>T | TP53 | Pathogenic | 17 | 7577156 | 7577156 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000546.6(TP53):c.993+1G>T | TP53 | Pathogenic | 17 | 7576852 | 7576852 | C | A | criteria provided, single submitter | - |
Deletion | NM_000546.6(TP53):c.298del (p.Gln100fs) | TP53 | Pathogenic | 17 | 7579389 | 7579389 | TG | T | 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 | - |
single nucleotide variant | NM_000546.6(TP53):c.314G>T (p.Gly105Val) | TP53 | Likely pathogenic | 17 | 7579373 | 7579373 | C | A | criteria provided, single submitter | - |
Duplication | NM_000546.6(TP53):c.371dup (p.Cys124fs) | TP53 | Pathogenic | 17 | 7579315 | 7579316 | G | GC | criteria provided, single submitter | - |