Deletion | NM_000546.6(TP53):c.52del (p.Thr18fs) | TP53 | Pathogenic | 17 | 7579861 | 7579861 | GT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10580965 |
Deletion | NM_000546.6(TP53):c.58del (p.Ser20fs) | TP53 | Pathogenic | 17 | 7579855 | 7579855 | GA | G | criteria provided, single submitter | ClinGen:CA645369693 |
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 |
Indel | NM_000546.6(TP53):c.77_80delinsAAGAACGT (p.Leu26fs) | TP53 | Pathogenic | 17 | 7579716 | 7579719 | GGAA | ACGTTCTT | criteria provided, single submitter | ClinGen:CA000409 |
Deletion | NM_000546.6(TP53):c.86del (p.Asn29fs) | TP53 | Pathogenic | 17 | 7579710 | 7579710 | GT | G | criteria provided, single submitter | ClinGen:CA658798708 |
Deletion | NM_000546.6(TP53):c.86_96+4del | TP53 | Pathogenic | 17 | 7579696 | 7579710 | CTTACCAGAACGTTGT | C | criteria provided, single submitter | ClinGen:CA645369698 |
Insertion | NM_000546.6(TP53):c.90_91insA (p.Val31fs) | TP53 | Pathogenic | 17 | 7579705 | 7579706 | C | CT | criteria provided, single submitter | ClinGen:CA645369700 |
single nucleotide variant | NM_000546.6(TP53):c.96+1G>T | TP53 | Pathogenic/Likely pathogenic | 17 | 7579699 | 7579699 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA397848251 |
single nucleotide variant | NM_000546.6(TP53):c.96+1G>C | TP53 | Pathogenic/Likely pathogenic | 17 | 7579699 | 7579699 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA397848258 |
Duplication | NM_000546.6(TP53):c.96+2dup | TP53 | Likely pathogenic | 17 | 7579697 | 7579698 | T | TA | criteria provided, single submitter | ClinGen:CA645369699 |