single nucleotide variant | NM_000546.6(TP53):c.403T>G (p.Cys135Gly) | TP53 | Likely pathogenic | 17 | 7578527 | 7578527 | A | C | reviewed by expert panel | ClinGen:CA16602989 |
Deletion | NM_000546.5(TP53):c.-202_-29+?del | TP53 | Likely pathogenic | 17 | 7590695 | 7590868 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000546.6(TP53):c.473G>C (p.Arg158Pro) | TP53 | Likely pathogenic | 17 | 7578457 | 7578457 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584592,UniProtKB:P04637#VAR_044848 |
single nucleotide variant | NM_000546.6(TP53):c.538G>A (p.Glu180Lys) | TP53 | Likely pathogenic | 17 | 7578392 | 7578392 | C | T | reviewed by expert panel | ClinGen:CA10584590,UniProtKB:P04637#VAR_044943 |
single nucleotide variant | NM_000546.6(TP53):c.981T>G (p.Tyr327Ter) | TP53 | Likely pathogenic | 17 | 7576865 | 7576865 | A | C | criteria provided, single submitter | ClinGen:CA10584585 |
single nucleotide variant | NM_000546.6(TP53):c.401T>G (p.Phe134Cys) | TP53 | Likely pathogenic | 17 | 7578529 | 7578529 | A | C | criteria provided, single submitter | ClinGen:CA002638,UniProtKB:P04637#VAR_044749 |
Deletion | NM_000546.6(TP53):c.657_665del (p.Tyr220_Pro222del) | TP53 | Likely pathogenic | 17 | 7578184 | 7578192 | CGGCTCATAG | C | criteria provided, single submitter | ClinGen:CA10580930 |
Deletion | NM_000546.6(TP53):c.716_736del (p.Asn239_Gly245del) | TP53 | Likely pathogenic | 17 | 7577545 | 7577565 | ATGCCGCCCATGCAGGAACTGT | A | criteria provided, single submitter | ClinGen:CA10580925 |
single nucleotide variant | NM_000546.6(TP53):c.782+2T>G | TP53 | Likely pathogenic | 17 | 7577497 | 7577497 | A | C | criteria provided, single submitter | ClinGen:CA10580920 |
single nucleotide variant | NM_000546.6(TP53):c.752T>G (p.Ile251Ser) | TP53 | Likely pathogenic | 17 | 7577529 | 7577529 | A | C | criteria provided, single submitter | ClinGen:CA000396,UniProtKB:P04637#VAR_033038 |