Indel | NM_000546.6(TP53):c.1043_1051delinsG (p.Leu348_Lys351delinsTer) | TP53 | Pathogenic | 17 | 7573976 | 7573984 | TGAGTTCCA | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000546.6(TP53):c.1040C>A (p.Ala347Asp) | TP53 | Likely pathogenic | 17 | 7573987 | 7573987 | G | T | reviewed by expert panel | ClinGen:CA000022 |
single nucleotide variant | NM_000546.6(TP53):c.1036G>T (p.Glu346Ter) | TP53 | Pathogenic | 17 | 7573991 | 7573991 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) | TP53 | Likely pathogenic | 17 | 7573996 | 7573996 | A | G | reviewed by expert panel | ClinGen:CA000021,UniProtKB:P04637#VAR_045546,OMIM:191170.0031 |
single nucleotide variant | NM_000546.6(TP53):c.1025G>C (p.Arg342Pro) | TP53 | Pathogenic/Likely pathogenic | 17 | 7574002 | 7574002 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA337802,UniProtKB:P04637#VAR_045544 |
single nucleotide variant | NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) | TP53 | Pathogenic | 17 | 7574003 | 7574003 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA000019 |
Deletion | NM_000546.6(TP53):c.1024del (p.Arg342fs) | TP53 | Pathogenic | 17 | 7574003 | 7574003 | CG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA497712605 |
Deletion | NM_000546.6(TP53):c.1018del (p.Met340fs) | TP53 | Pathogenic | 17 | 7574009 | 7574009 | AT | A | criteria provided, single submitter | ClinGen:CA645369695 |
single nucleotide variant | NM_000546.6(TP53):c.1015G>T (p.Glu339Ter) | TP53 | Pathogenic | 17 | 7574012 | 7574012 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA397832685 |
single nucleotide variant | NM_000546.6(TP53):c.1010G>A (p.Arg337His) | TP53 | Pathogenic/Likely pathogenic | 17 | 7574017 | 7574017 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA000013,UniProtKB:P04637#VAR_035016,OMIM:191170.0035 |