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。
筋原線維性ミオパチー
小児・神経疾患
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_001267550.2(TTN):c.80950G>T (p.Glu26984Ter) | TTN | Likely pathogenic | 2 | 179429909 | 179429909 | C | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter) | TTN | Likely pathogenic | 2 | 179428334 | 179428334 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001267550.2(TTN):c.104947C>T (p.Gln34983Ter) | TTN | Likely pathogenic | 2 | 179396395 | 179396395 | G | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_001267550.2(TTN):c.56347+1G>A | TTN | Likely pathogenic | 2 | 179464280 | 179464280 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001267550.2(TTN):c.56648-1G>A | TTN | Likely pathogenic | 2 | 179463790 | 179463790 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001267550.2(TTN):c.55121-1G>A | TTN | Likely pathogenic | 2 | 179466878 | 179466878 | C | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_001267550.2(TTN):c.66464-2A>G | TTN | Likely pathogenic | 2 | 179446533 | 179446533 | T | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001267550.2(TTN):c.51436+1G>T | TTN | Pathogenic | 2 | 179474816 | 179474816 | C | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_001267550.2(TTN):c.89197+2T>G | TTN | Likely pathogenic | 2 | 179418639 | 179418639 | A | C | criteria provided, single submitter | - |
| Indel | NM_001267550.2(TTN):c.54314_54381+139delinsATAAGG | TTN | Likely pathogenic | 2 | 179469296 | 179469502 | AAACACTACAATAACAAAATAACAGCTTATCGTGTGTGGTTTTGAGTTTAATTATCAAATTCCAAGGTTATATTAAAATGGCATCAAACCAGAGTCATGTACTTTTAATGTGTATAAGAAAATATTCAGAAGAGTTTACCCCATATCTTTTCTCTACAGCAGTGTTGGTGACTTCCTCCCATTCTGCTTTCTTCCTACTTGCATCAC | CCTTAT | criteria provided, single submitter | - |
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