Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Duplication | NM_000546.5(TP53):c.2588dup | TP53 | Pathogenic | 17 | 7571520 | 7571521 | T | TC | criteria provided, single submitter | ClinGen:CA645372603 |
Deletion | NM_000546.5(TP53):c.-202_*1207del | TP53 | Pathogenic | 17 | 7571720 | 7590868 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_7668402)_(7669690_?)del | TP53 | Likely pathogenic | 17 | 7571720 | 7573008 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_7669599)_(7676604_?)del | TP53 | Pathogenic | 17 | 7572917 | 7579922 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_7669599)_(8382320_?)del | TP53 | Pathogenic | 17 | 7572917 | 8285638 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_7669599)_(7688293_?)del | TP53 | Pathogenic | 17 | 7572917 | 7591611 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_7669603)_(7670721_?)del | TP53 | Likely pathogenic | 17 | 7572921 | 7574039 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_7669603)_(7676600_?)del | TP53 | Pathogenic | 17 | 7572921 | 7579918 | 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 |
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 |