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) | ||||||||||
| Insertion | NM_001267550.2(TTN):c.82684_82685insSVAelement | TTN | Likely pathogenic | 2 | 179428174 | 179428175 | na | na | criteria provided, single submitter | - |
| Deletion | NM_001267550.2(TTN):c.82226del (p.Lys27409fs) | TTN | Likely pathogenic | 2 | 179428633 | 179428633 | CT | C | criteria provided, single submitter | - |
| Deletion | NM_001267550.2(TTN):c.81718del (p.Arg27240fs) | TTN | Likely pathogenic | 2 | 179429141 | 179429141 | CT | C | criteria provided, single submitter | - |
| Deletion | NM_001267550.2(TTN):c.81323del (p.His27108fs) | TTN | Likely pathogenic | 2 | 179429536 | 179429536 | AT | A | criteria provided, single submitter | - |
| Deletion | NM_001267550.2(TTN):c.80736_80742del (p.Trp26913fs) | TTN | Likely pathogenic | 2 | 179430117 | 179430123 | TGACCCAA | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_001267550.2(TTN):c.80547T>G (p.Tyr26849Ter) | TTN | Likely pathogenic | 2 | 179430312 | 179430312 | A | C | criteria provided, single submitter | - |
| single nucleotide variant | NM_001267550.2(TTN):c.79539T>A (p.Tyr26513Ter) | TTN | Likely pathogenic | 2 | 179431320 | 179431320 | A | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_001267550.2(TTN):c.78249T>G (p.Tyr26083Ter) | TTN | Likely pathogenic | 2 | 179432610 | 179432610 | A | C | criteria provided, single submitter | - |
| single nucleotide variant | NM_001267550.2(TTN):c.77248C>T (p.Arg25750Ter) | TTN | Likely pathogenic | 2 | 179433611 | 179433611 | G | A | criteria provided, single submitter | - |
| Duplication | NM_001267550.2(TTN):c.77145dup (p.Ser25716fs) | TTN | Likely pathogenic | 2 | 179433713 | 179433714 | A | AG | criteria provided, multiple submitters, no conflicts | - |
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