Knowledge base for genomic medicine in Japanese
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遺伝性乳がん・卵巣がん症候群
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)_(43051137_?)del | BRCA1 | Pathogenic | 17 | 41197675 | 41203154 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000017.11:g.(?_43045658)_(43125483_?)del | BRCA1 | Pathogenic | 17 | 41197675 | 41277500 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000017.10:g.(?_41215330)_(41215988_?)dup | BRCA1 | Pathogenic | 17 | 41215330 | 41215988 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000017.11:g.(?_43063313)_(43125483_?)del | BRCA1 | Pathogenic | 17 | 41215330 | 41277500 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000017.11:g.(?_43082384)_(43082595_?)del | BRCA1 | Pathogenic | 17 | 41234401 | 41234612 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000017.10:g.(?_41234401)_(41234612_?)dup | BRCA1 | Pathogenic | 17 | 41234401 | 41234612 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000017.11:g.(?_43090924)_(43106553_?)del | BRCA1 | Pathogenic | 17 | 41242941 | 41258570 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000017.11:g.(?_43090924)_(43125483_?)del | BRCA1 | Pathogenic | 17 | 41242941 | 41277500 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000017.11:g.(?_43104116)_(43115785_?)del | BRCA1 | Pathogenic | 17 | 41256133 | 41267802 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000017.11:g.(?_43115706)_(43125483_?)del | BRCA1 | Pathogenic | 17 | 41267723 | 41277500 | na | na | criteria provided, single submitter | - |
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