Knowledge base for genomic medicine in Japanese
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若年性ポリポーシス症候群
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_000010.11:g.(?_86755016)_(86923729_?)del | BMPR1A | Pathogenic | 10 | 88514773 | 88683486 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000010.11:g.(?_86876009)_(86923729_?)del | BMPR1A | Pathogenic | 10 | 88635766 | 88683486 | na | na | criteria provided, single submitter | - |
| Deletion | NM_004329.2(BMPR1A):c.-152-?_*1469del | BMPR1A | Pathogenic | 10 | 88635624 | 88684945 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000010.10:g.(?_88649809)_(89725239_?)del | BMPR1A | Pathogenic | 10 | 88649809 | 89725239 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000010.11:g.(?_86755016)_(87965482_?)del | BMPR1A | Pathogenic | 10 | 88514773 | 89725239 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000010.11:g.(?_86838866)_(87965482_?)del | BMPR1A | Pathogenic | 10 | 88598623 | 89725239 | na | na | criteria provided, single submitter | - |
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