Knowledge base for genomic medicine in Japanese
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遺伝性乳がん (ATM/CHEK2)
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_000022.11:g.(?_28687887)_(28687996_?)del | CHEK2 | Likely pathogenic | 22 | 29083875 | 29083984 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000022.11:g.(?_28687887)_(28719495_?)del | CHEK2 | Pathogenic | 22 | 29083875 | 29115483 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000022.11:g.(?_28687887)_(28696997_?)del | CHEK2 | Pathogenic | 22 | 29083875 | 29092985 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000022.11:g.(?_28687743)_(28725367_?)del | CHEK2 | Pathogenic | 22 | 29083731 | 29121355 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000022.11:g.(?_28687743)_(28687986_?)del | CHEK2 | Likely pathogenic | 22 | 29083731 | 29083974 | na | na | criteria provided, single submitter | - |
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