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.1533_1534dup (p.His512fs) | DMD | Pathogenic | X | 32613941 | 32613942 | T | TGA | criteria provided, single submitter | ClinGen:CA10606761 |
| single nucleotide variant | NM_004006.3(DMD):c.5344G>T (p.Glu1782Ter) | DMD | Pathogenic | X | 32366627 | 32366627 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10606778 |
| Duplication | NM_001267550.2(TTN):c.106137dup (p.Lys35380Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179395204 | 179395205 | T | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA10606783 |
| Deletion | NM_003319.4(TTN):c.63060_63061del (p.Thr21020_Cys21021insTer) | TTN | Pathogenic/Likely pathogenic | 2 | 179417371 | 179417372 | CAT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA1987810 |
| Deletion | NM_004006.3(DMD):c.6804_6807del (p.Lys2268fs) | DMD | Pathogenic | X | 31947818 | 31947821 | ATTGT | A | criteria provided, single submitter | ClinGen:CA10606823 |
| Deletion | NM_004006.3(DMD):c.93+1_93+5del | DMD | Pathogenic | X | 33038251 | 33038255 | TCTTAC | T | criteria provided, single submitter | ClinGen:CA10606830 |
| single nucleotide variant | NM_004006.3(DMD):c.4845+1G>T | DMD | Pathogenic | X | 32398626 | 32398626 | C | A | criteria provided, single submitter | ClinGen:CA10606838 |
| single nucleotide variant | NM_004006.3(DMD):c.9975-2A>C | DMD | Pathogenic | X | 31198600 | 31198600 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10606839 |
| single nucleotide variant | NM_001267550.2(TTN):c.107205G>A (p.Trp35735Ter) | TTN | Likely pathogenic | 2 | 179393273 | 179393273 | C | T | criteria provided, single submitter | ClinGen:CA10606844 |
| Deletion | NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer) | TTN | Pathogenic/Likely pathogenic | 2 | 179412953 | 179412957 | CAAGCT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10606880 |
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