Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000546.6(TP53):c.250del (p.Ala84fs) | TP53 | Pathogenic | 17 | 7579437 | 7579437 | GC | G | criteria provided, single submitter | - |
Indel | NM_000546.6(TP53):c.329_330delinsCC (p.Arg110Pro) | TP53 | Pathogenic | 17 | 7579357 | 7579358 | AC | GG | criteria provided, single submitter | - |
Duplication | NM_000546.6(TP53):c.342dup (p.His115fs) | TP53 | Pathogenic | 17 | 7579344 | 7579345 | G | GC | criteria provided, single submitter | - |
single nucleotide variant | NM_000546.6(TP53):c.380C>A (p.Ser127Tyr) | TP53 | Pathogenic | 17 | 7578550 | 7578550 | G | T | reviewed by expert panel | - |
Deletion | NM_000546.6(TP53):c.383del (p.Pro128fs) | TP53 | Pathogenic | 17 | 7578547 | 7578547 | AG | A | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000546.6(TP53):c.509_510dup (p.Glu171fs) | TP53 | Pathogenic | 17 | 7578419 | 7578420 | C | CCG | criteria provided, single submitter | - |
Deletion | NM_000546.6(TP53):c.551_554del (p.Asp184fs) | TP53 | Pathogenic | 17 | 7578376 | 7578379 | GCTAT | G | criteria provided, single submitter | - |
Deletion | NM_000546.6(TP53):c.711del (p.Met237fs) | TP53 | Pathogenic | 17 | 7577570 | 7577570 | AC | A | criteria provided, single submitter | - |
Duplication | NM_000546.6(TP53):c.766dup (p.Thr256fs) | TP53 | Pathogenic | 17 | 7577514 | 7577515 | G | GT | criteria provided, single submitter | - |
Deletion | NM_000546.6(TP53):c.788del (p.Asn263fs) | TP53 | Pathogenic | 17 | 7577150 | 7577150 | AT | A | criteria provided, single submitter | - |