Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
筋ジストロフィー
小児・神経疾患
Excelでダウンロード最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。
https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/
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_000023.11:g.(?_32844773)_(32849830_?)del | DMD | Pathogenic | X | 32862890 | 32867947 | na | na | criteria provided, single submitter | - |
| Deletion | NM_001849.4(COL6A2):c.735+9_784del | COL6A2 | Likely pathogenic | 21 | 47532745 | 47533968 | TGGCGCTTCCCTTCCTGCCAGTGCTGGCCGGCAGCTGACCCAGCAGAGATGACCGCGCCAGGCTGCCGACTCCTGGCGCCTCCAGGCTGGAACAGATGAGAGGAGAGGGAGTCACCTGCTCCATGTTGGACCTGAGGCCTTGGAGTCTGGAGAAAGGGCTCCCAGCCAAAGCTAGGCTGTTTAGATCCCGTGAGGGTCAGCGTTAGGGTCACCCACAGAGCACGTGTTACAAGGAGAGGTCGAGGGTCTGGCCTCCGGGCAGGTGGGATCCATCCACCCTGGACTCGAGGCCCGAGCCCAGCCCAGCAGGTCAGGGGAGAAGGAACTGACATCATCGGGGTCCATGACATCCCCACCTCCCTGTGTGTCCCAGCTCCAGCTCTCAGGAAGGGGAGCAGGCATCTGAGATCTCCCCCGTGAGGCTTCCTGCAAAAACGTGCCCTGCCTCAGAATCGCTGCTCAGTAACAGTGGTTTCATTGCCGTGTACAAATGGTGCCTCCCTCACCAGTGCCCCTTGCTCTTCCATCCTTTTGTAAAATTTATTCTTTTATATTTGTTTTTTTAGAGACAGGGTCTTTCTCTGTCACCTAGGCTGGAGTGCAGTGGTACGATCACGGCTCACTGCAGCCTTGAACTCTGAGGCTCAAGCCATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATACCTGGTGTGCGCATGTAGTTCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTTCGTATTGTTTTTTTGTAGAGATGGGATCTCACTATGTTGCCCAGCCTGGTCTCTAACTCCTGGCCTCAAGCAGTCCTCCCTGCCTCGGCCTACCAAAATGTTGGGATTCCAGGCGTGAGCTGCACCCGGCCTTTCTTCCCTTCTATTTTCTGTCATGGCTTAAGCCAGGCTTGGTTTTTTAAACTTGCCTAGAACACCTGACCGAGAGCCAAACTCTTTGGCTTGTCCCTGATGGGGGCAGAGCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAA | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_001849.4(COL6A2):c.736-1G>C | COL6A2 | Pathogenic | 21 | 47533921 | 47533921 | G | C | criteria provided, single submitter | - |
| Deletion | NC_000023.10:g.(?_152990712)_(153650075_?)del | EMD | Pathogenic | X | 152990712 | 153650075 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_31341705)_(31341785_?)dup | DMD | Pathogenic | X | 31341705 | 31341785 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31323588)_(31507463_?)del | DMD | Pathogenic | X | 31341705 | 31525580 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31496768)_(31679606_?)del | DMD | Pathogenic | X | 31514885 | 31697723 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31496778)_(31507463_?)del | DMD | Pathogenic | X | 31514895 | 31525580 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31507271)_(31507463_?)del | DMD | Pathogenic | X | 31525388 | 31525580 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31595570)_(31774202_?)del | DMD | Pathogenic | X | 31613687 | 31792319 | na | na | criteria provided, single submitter | - |
Copyright © Japan Institute for Health Security. All rights reserved.