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。
特発性拡張型心筋症
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) | ||||||||||
| Duplication | NC_000023.10:g.(?_32662229)_(32669194_?)dup | DMD | Pathogenic | X | 32662229 | 32669194 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32823275)_(32849840_?)del | DMD | Pathogenic | X | 32841392 | 32867957 | na | na | criteria provided, single submitter | - |
| single nucleotide variant | NM_004006.3(DMD):c.9928C>T (p.Gln3310Ter) | DMD | Pathogenic | X | 31200901 | 31200901 | G | A | criteria provided, single submitter | ClinGen:CA328405792 |
| single nucleotide variant | NM_004006.3(DMD):c.8547+1G>A | DMD | Likely pathogenic | X | 31514904 | 31514904 | C | T | criteria provided, single submitter | ClinGen:CA412655349 |
| Deletion | NM_004006.3(DMD):c.7268del (p.Lys2423fs) | DMD | Pathogenic | X | 31838133 | 31838133 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658944 |
| Deletion | NM_004006.3(DMD):c.6986del (p.Lys2329fs) | DMD | Pathogenic | X | 31893417 | 31893417 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA515859535 |
| Indel | NM_004006.3(DMD):c.4918_4919delinsTG (p.Thr1640Ter) | DMD | Pathogenic | X | 32383243 | 32383244 | GT | CA | criteria provided, single submitter | ClinGen:CA658658964 |
| single nucleotide variant | NM_004006.3(DMD):c.3432+2036A>G | DMD | Pathogenic/Likely pathogenic | X | 32479520 | 32479520 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658948,OMIM:300377.0081 |
| single nucleotide variant | NM_004006.3(DMD):c.1865C>A (p.Ser622Ter) | DMD | Pathogenic | X | 32583946 | 32583946 | G | T | criteria provided, single submitter | ClinGen:CA412672846 |
| Duplication | NC_000023.10:g.(?_31514885)_(31950364_?)dup | DMD | Likely pathogenic | X | 31514885 | 31950364 | na | na | criteria provided, single submitter | - |
Copyright © Japan Institute for Health Security. All rights reserved.