single nucleotide variant | NM_000546.6(TP53):c.524G>A (p.Arg175His) | TP53 | Pathogenic | 17 | 7578406 | 7578406 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA000251,UniProtKB:P04637#VAR_005932,OMIM:191170.0030 |
single nucleotide variant | NM_000546.6(TP53):c.451C>T (p.Pro151Ser) | TP53 | Pathogenic/Likely pathogenic | 17 | 7578479 | 7578479 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA000200,UniProtKB:P04637#VAR_005895,OMIM:191170.0026 |
single nucleotide variant | NM_000546.6(TP53):c.451C>A (p.Pro151Thr) | TP53 | Pathogenic/Likely pathogenic | 17 | 7578479 | 7578479 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA000198,UniProtKB:P04637#VAR_005896,OMIM:191170.0025 |
single nucleotide variant | NM_000546.6(TP53):c.839G>C (p.Arg280Thr) | TP53 | Pathogenic/Likely pathogenic | 17 | 7577099 | 7577099 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA000445,UniProtKB:P04637#VAR_006009,OMIM:191170.0024 |
single nucleotide variant | NM_000546.6(TP53):c.818G>A (p.Arg273His) | TP53 | Pathogenic | 17 | 7577120 | 7577120 | C | T | reviewed by expert panel | ClinGen:CA000434,UniProtKB:P04637#VAR_005995,OMIM:191170.0020 |
single nucleotide variant | NM_000546.6(TP53):c.733G>A (p.Gly245Ser) | TP53 | Pathogenic | 17 | 7577548 | 7577548 | C | T | reviewed by expert panel | ClinGen:CA000367,UniProtKB:P04637#VAR_005974,OMIM:191170.0019 |
single nucleotide variant | NM_000546.6(TP53):c.844C>T (p.Arg282Trp) | TP53 | Pathogenic/Likely pathogenic | 17 | 7577094 | 7577094 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA000454,UniProtKB:P04637#VAR_006016,OMIM:191170.0018 |
single nucleotide variant | NM_000546.6(TP53):c.722C>T (p.Ser241Phe) | TP53 | Pathogenic/Likely pathogenic | 17 | 7577559 | 7577559 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA000359,UniProtKB:P04637#VAR_005969,OMIM:191170.0013 |
single nucleotide variant | NM_000546.6(TP53):c.814G>T (p.Val272Leu) | TP53 | Likely pathogenic | 17 | 7577124 | 7577124 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA000430,UniProtKB:P04637#VAR_005992,OMIM:191170.0012 |
single nucleotide variant | NM_000546.6(TP53):c.398T>C (p.Met133Thr) | TP53 | Pathogenic | 17 | 7578532 | 7578532 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA000158,UniProtKB:P04637#VAR_005875,OMIM:191170.0011 |