Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000546.6(TP53):c.1077del (p.Ser362fs) | TP53 | Pathogenic | 17 | 7573950 | 7573950 | CT | C | criteria provided, single submitter | OMIM:191170.0044 |
Deletion | NM_000546.6(TP53):c.1083del (p.Ser362fs) | TP53 | Pathogenic | 17 | 7573944 | 7573944 | TC | T | criteria provided, multiple submitters, no conflicts | OMIM:191170.0043 |
single nucleotide variant | NM_000546.6(TP53):c.1101-2A>G | TP53 | Pathogenic/Likely pathogenic | 17 | 7573010 | 7573010 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA000038 |
single nucleotide variant | NM_000546.6(TP53):c.1101-1G>A | TP53 | Pathogenic/Likely pathogenic | 17 | 7573009 | 7573009 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10580902 |
Deletion | NC_000017.11:g.(?_7668402)_(7669690_?)del | TP53 | Likely pathogenic | 17 | 7571720 | 7573008 | na | na | criteria provided, single submitter | - |
Deletion | NM_000546.6(TP53):c.1125del (p.Gln375fs) | TP53 | Pathogenic | 17 | 7572984 | 7572984 | AC | A | criteria provided, single submitter | ClinGen:CA000041 |
Duplication | NM_000546.5(TP53):c.2588dup | TP53 | Pathogenic | 17 | 7571520 | 7571521 | T | TC | criteria provided, single submitter | ClinGen:CA645372603 |