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 | NM_004006.3(DMD):c.5697dup (p.Leu1900fs) | DMD | Pathogenic | X | 32361292 | 32361293 | A | AT | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_004006.3(DMD):c.1620G>A (p.Trp540Ter) | DMD | Pathogenic | X | 32591946 | 32591946 | C | T | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_004006.3(DMD):c.776_777del (p.Lys259fs) | DMD | Pathogenic | X | 32717283 | 32717284 | CTT | C | criteria provided, single submitter | - |
| Deletion | NM_001267550.2(TTN):c.56330_56334del (p.Met18777fs) | TTN | Likely pathogenic | 2 | 179464294 | 179464298 | GTCTCA | G | criteria provided, single submitter | - |
| Deletion | NM_001267550.2(TTN):c.107644del (p.Ser35882fs) | TTN | Likely pathogenic | 2 | 179392209 | 179392209 | CT | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_004006.3(DMD):c.6649C>T (p.Gln2217Ter) | DMD | Pathogenic | X | 31950310 | 31950310 | G | A | criteria provided, single submitter | - |
| Deletion | NM_001267550.2(TTN):c.73676_73694del (p.Arg24559fs) | TTN | Likely pathogenic | 2 | 179437165 | 179437183 | TGCTTTTCTTGTTGATTCCC | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_004006.3(DMD):c.3374C>A (p.Ser1125Ter) | DMD | Pathogenic | X | 32481614 | 32481614 | G | T | criteria provided, multiple submitters, no conflicts | - |
| Insertion | NM_000335.5(SCN5A):c.2334_2335insTTTCCAA (p.Gln779fs) | SCN5A | Pathogenic | 3 | 38628992 | 38628993 | G | GTTGGAAA | criteria provided, single submitter | ClinGen:CA16617952 |
| single nucleotide variant | NM_000335.5(SCN5A):c.1921C>T (p.Gln641Ter) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38640511 | 38640511 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617953 |
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