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.(?_47373457)_(47379975_?)del | EPCAM | Pathogenic | 2 | 47600596 | 47607114 | na | na | criteria provided, single submitter | - |
| Deletion | NM_002354.3(EPCAM):c.712del (p.Glu238fs) | EPCAM | Pathogenic | 2 | 47606959 | 47606959 | TG | T | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47369500)_(47429947_?)del | EPCAM | Pathogenic | 2 | 47596639 | 47657086 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47369496)_(47369591_?)del | EPCAM | Pathogenic | 2 | 47596635 | 47596730 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47373463)_(47377077_?)del | EPCAM | Pathogenic | 2 | 47600602 | 47604216 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47369496)_(47410382_?)del | EPCAM | Pathogenic | 2 | 47596635 | 47637521 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47369496)_(47386623_?)del | EPCAM | Pathogenic | 2 | 47596635 | 47613762 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47369496)_(47442436_?)del | EPCAM | Pathogenic | 2 | 47596635 | 47669575 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47373453)_(47416439_?)del | EPCAM | Pathogenic | 2 | 47600592 | 47643578 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47377004)_(47377087_?)del | EPCAM | Pathogenic | 2 | 47604143 | 47604226 | na | na | criteria provided, single submitter | - |
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