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) | ||||||||||
| single nucleotide variant | NM_000256.3(MYBPC3):c.1227-1G>T | MYBPC3 | Likely pathogenic | 11 | 47364697 | 47364697 | C | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_001267550.2(TTN):c.101953G>T (p.Glu33985Ter) | TTN | Likely pathogenic | 2 | 179399389 | 179399389 | C | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001267550.2(TTN):c.94729G>T (p.Gly31577Ter) | TTN | Likely pathogenic | 2 | 179411426 | 179411426 | C | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_001267550.2(TTN):c.91035G>A (p.Trp30345Ter) | TTN | Likely pathogenic | 2 | 179416592 | 179416592 | C | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179427755 | 179427755 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001267550.2(TTN):c.82548G>A (p.Trp27516Ter) | TTN | Likely pathogenic | 2 | 179428311 | 179428311 | C | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_001267550.2(TTN):c.81650G>A (p.Trp27217Ter) | TTN | Likely pathogenic | 2 | 179429209 | 179429209 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001267550.2(TTN):c.78326G>A (p.Trp26109Ter) | TTN | Likely pathogenic | 2 | 179432533 | 179432533 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001267550.2(TTN):c.70714C>T (p.Gln23572Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179440145 | 179440145 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001267550.2(TTN):c.67519C>T (p.Gln22507Ter) | TTN | Likely pathogenic | 2 | 179444405 | 179444405 | G | A | criteria provided, single submitter | - |
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