Knowledge base for genomic medicine in Japanese
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結節性硬化症
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_000016.10:g.(?_2048596)_(2074415_?)del | TSC2 | Pathogenic | 16 | 2098597 | 2124416 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000016.10:g.(?_2048596)_(2106697_?)del | TSC2 | Pathogenic | 16 | 2098597 | 2156698 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000016.10:g.(?_2048596)_(2048773_?)del | TSC2 | Pathogenic | 16 | 2098597 | 2098774 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000016.9:g.(?_2098597)_(2130398_?)del | TSC2 | Pathogenic | 16 | 2098597 | 2130398 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000016.9:g.(?_2098597)_(2150587_?)del | TSC2 | Pathogenic | 16 | 2098597 | 2150587 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000016.10:g.(?_2048587)_(2065635_?)del | TSC2 | Pathogenic | 16 | 2098588 | 2115636 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000016.9:g.(?_624055)_(2115656_?)del | TSC2 | Pathogenic | 16 | 624055 | 2115656 | na | na | criteria provided, single submitter | - |
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