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.(?_47377004)_(47429951_?)del | EPCAM | Pathogenic | 2 | 47604143 | 47657090 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47403182)_(47429951_?)del | MSH2 | Pathogenic | 2 | 47630321 | 47657090 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47442337)_(47482959_?)del | MSH2 | Pathogenic | 2 | 47669476 | 47710098 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47369496)_(47426138_?)del | EPCAM | Pathogenic | 2 | 47596635 | 47653277 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47369496)_(47471072_?)del | MSH2 | Pathogenic | 2 | 47596635 | 47698211 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47790917)_(47791133_?)del | MSH6 | Pathogenic | 2 | 48018056 | 48018272 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47373453)_(47379979_?)del | EPCAM | Pathogenic | 2 | 47600592 | 47607118 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47403182)_(47482959_?)del | MSH2 | Pathogenic | 2 | 47630321 | 47710098 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47408391)_(47412570_?)del | MSH2 | Pathogenic | 2 | 47635530 | 47639709 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000002.12:g.(?_47410084)_(47482959_?)del | MSH2 | Pathogenic | 2 | 47637223 | 47710098 | na | na | criteria provided, single submitter | - |
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