Knowledge base for genomic medicine in Japanese
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遺伝性褐色細胞腫・パラガングリオーマ
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 | NM_002382.5(MAX):c.120del (p.Asp41fs) | MAX | Pathogenic | 14 | 65560477 | 65560477 | CT | C | criteria provided, single submitter | - |
| Deletion | NC_000001.11:g.(?_17018871)_(17054029_?)del | SDHB | Pathogenic | 1 | 17345366 | 17380524 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000001.11:g.(?_161356667)_(161362443_?)del | SDHC | Pathogenic | 1 | 161326457 | 161332233 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000001.11:g.(?_161356667)_(161356850_?)del | SDHC | Pathogenic | 1 | 161326457 | 161326640 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000001.11:g.(?_17018871)_(17018968_?)del | SDHB | Pathogenic | 1 | 17345366 | 17345463 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000001.11:g.(?_17044751)_(17044898_?)del | SDHB | Pathogenic | 1 | 17371246 | 17371393 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000003.12:g.(?_10052377)_(10149975_?)del | VHL | Pathogenic | 3 | 10094061 | 10191659 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000003.12:g.(?_10149777)_(10149975_?)del | VHL | Pathogenic | 3 | 10191461 | 10191659 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000003.12:g.(?_10141838)_(10142197_?)del | VHL | Pathogenic | 3 | 10183522 | 10183881 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000003.12:g.(?_10146504)_(10146646_?)del | VHL | Pathogenic | 3 | 10188188 | 10188330 | na | na | criteria provided, single submitter | - |
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