Deletion | NM_000546.6(TP53):c.216del (p.Val73fs) | TP53 | Pathogenic | 17 | 7579471 | 7579471 | CG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA497925988 |
Duplication | NM_000546.6(TP53):c.216dup (p.Val73fs) | TP53 | Pathogenic | 17 | 7579470 | 7579471 | C | CG | criteria provided, multiple submitters, no conflicts | ClinGen:CA000073,OMIM:191170.0016 |
Deletion | NM_000546.6(TP53):c.227_279del (p.Ala76fs) | TP53 | Pathogenic | 17 | 7579408 | 7579460 | ACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTG | A | criteria provided, single submitter | ClinGen:CA645369690 |
Deletion | NM_000546.6(TP53):c.247_256del (p.Ala83fs) | TP53 | Pathogenic | 17 | 7579431 | 7579440 | GCAGGGGCCGC | G | criteria provided, single submitter | - |
Deletion | NM_000546.6(TP53):c.248_249del (p.Ala83fs) | TP53 | Pathogenic | 17 | 7579438 | 7579439 | CCG | C | criteria provided, single submitter | ClinGen:CA645369691 |
Deletion | NM_000546.6(TP53):c.250del (p.Ala84fs) | TP53 | Pathogenic | 17 | 7579437 | 7579437 | GC | G | criteria provided, single submitter | - |
Deletion | NM_000546.6(TP53):c.254del (p.Pro85fs) | TP53 | Pathogenic | 17 | 7579433 | 7579433 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16620639 |
Deletion | NM_000546.6(TP53):c.257_279del (p.Ala86fs) | TP53 | Pathogenic | 17 | 7579408 | 7579430 | ACAGGGGCCAGGAGGGGGCTGGTG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10603324 |
Deletion | NM_000546.6(TP53):c.273_279del (p.Trp91fs) | TP53 | Pathogenic/Likely pathogenic | 17 | 7579408 | 7579414 | ACAGGGGC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16620638 |
single nucleotide variant | NM_000546.6(TP53):c.273G>A (p.Trp91Ter) | TP53 | Pathogenic | 17 | 7579414 | 7579414 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10580953 |