Knowledge base for genomic medicine in Japanese
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特発性拡張型心筋症
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) | ||||||||||
| single nucleotide variant | NM_001943.5(DSG2):c.690+1G>A | DSG2 | Pathogenic | 18 | 29102213 | 29102213 | G | A | criteria provided, single submitter | ClinGen:CA049624 |
| Deletion | NC_000023.11:g.(?_31323598)_(31479103_?)del | DMD | Pathogenic | X | 31341715 | 31497220 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31444481)_(31496944_?)del | DMD | Pathogenic | X | 31462598 | 31515061 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31657990)_(31836819_?)del | DMD | Pathogenic | X | 31676107 | 31854936 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31773960)_(31774192_?)del | DMD | Pathogenic | X | 31792077 | 31792309 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31819975)_(31836819_?)del | DMD | Pathogenic | X | 31838092 | 31854936 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_32305646)_(32328393_?)dup | DMD | Pathogenic | X | 32305646 | 32328393 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31496788)_(31875373_?)del | DMD | Pathogenic | X | 31514905 | 31893490 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31657990)_(31820083_?)del | DMD | Pathogenic | X | 31676107 | 31838200 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_32583819)_(32632570_?)dup | DMD | Pathogenic | X | 32583819 | 32632570 | na | na | criteria provided, single submitter | - |
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