Knowledge base for genomic medicine in Japanese
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家族性膵がん
腫瘍性疾患
Excelでダウンロード表のタイトル行が青色の項目は、クリックすることでソートすることができます。
| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Deletion | NC_000017.11:g.(?_43045658)_(43125483_?)del | BRCA1 | Pathogenic | 17 | 41197675 | 41277500 | na | na | criteria provided, single submitter | - |
| Deletion | NG_005905.2:g.(?_92501)_(172307_?)del | BRCA1 | Pathogenic | 17 | 41197694 | 41277500 | na | na | criteria provided, single submitter | - |
| Deletion | NG_005905.2:g.(?_92501)_(92714_93868)del | BRCA1 | Pathogenic | 17 | 41276133 | 41277500 | na | na | criteria provided, single submitter | - |
| Duplication | NG_005905.2:g.(?_92501)_(93968_102204)dup | BRCA1 | Pathogenic | 17 | 41267797 | 41277500 | na | na | criteria provided, single submitter | - |
| Deletion | NG_005905.2:g.(?_92501)_(93968_102204)del | BRCA1 | Pathogenic | 17 | 41267797 | 41277500 | na | na | criteria provided, single submitter | - |
| Deletion | NG_005905.2:g.(?_92501)_(102259_111450)del | BRCA1 | Pathogenic | 17 | 41258551 | 41277500 | na | na | criteria provided, single submitter | - |
| Deletion | NG_005905.2:g.(?_92501)_(113863_118103)del | BRCA1 | Pathogenic | 17 | 41251898 | 41277500 | na | na | criteria provided, single submitter | - |
| Deletion | NG_005905.2:g.(?_92501)_(126550_126951)del | BRCA1 | Pathogenic | 17 | 41243050 | 41277500 | na | na | criteria provided, single submitter | - |
| Deletion | NG_005905.2:g.(?_92501)_(127041_135408)del | BRCA1 | Pathogenic | 17 | 41234593 | 41277500 | na | na | criteria provided, single submitter | - |
| Deletion | NG_005905.2:g.(?_92501)_(141497_143462)del | BRCA1 | Pathogenic | 17 | 41226539 | 41277500 | na | na | criteria provided, single submitter | - |
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