Knowledge base for genomic medicine in Japanese
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リンチ症候群
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_000002.12:g.(?_47410084)_(47429951_?)del | MSH2 | Pathogenic | 2 | 47637223 | 47657090 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47416286)_(47416439_?)del | MSH2 | Pathogenic | 2 | 47643425 | 47643578 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47475015)_(47482959_?)del | MSH2 | Pathogenic | 2 | 47702154 | 47710098 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47482769)_(47482959_?)del | MSH2 | Pathogenic | 2 | 47709908 | 47710098 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47783224)_(47783503_?)del | MSH6 | Pathogenic | 2 | 48010363 | 48010642 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47804900)_(47805717_?)del | MSH6 | Pathogenic | 2 | 48032039 | 48032856 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47369496)_(47416439_?)del | EPCAM | Pathogenic | 2 | 47596635 | 47643578 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47369496)_(47429951_?)del | EPCAM | Pathogenic | 2 | 47596635 | 47657090 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47369496)_(47482959_?)del | EPCAM | Pathogenic | 2 | 47596635 | 47710098 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47377004)_(47386623_?)del | EPCAM | Pathogenic | 2 | 47604143 | 47613762 | na | na | criteria provided, single submitter | - |
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