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) | ||||||||||
| Indel | NM_001267550.2(TTN):c.54314_54381+139delinsATAAGG | TTN | Likely pathogenic | 2 | 179469296 | 179469502 | AAACACTACAATAACAAAATAACAGCTTATCGTGTGTGGTTTTGAGTTTAATTATCAAATTCCAAGGTTATATTAAAATGGCATCAAACCAGAGTCATGTACTTTTAATGTGTATAAGAAAATATTCAGAAGAGTTTACCCCATATCTTTTCTCTACAGCAGTGTTGGTGACTTCCTCCCATTCTGCTTTCTTCCTACTTGCATCAC | CCTTAT | 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 | - |
| 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.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.55121-1G>A | TTN | Likely pathogenic | 2 | 179466878 | 179466878 | C | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_000335.5(SCN5A):c.435C>A (p.Cys145Ter) | SCN5A | Pathogenic | 3 | 38663938 | 38663938 | G | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38608056 | 38608056 | G | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000335.5(SCN5A):c.2946T>A (p.Cys982Ter) | SCN5A | Likely pathogenic | 3 | 38622704 | 38622704 | A | T | criteria provided, single submitter | - |
| Deletion | NM_004168.4(SDHA):c.63+2del | SDHA | Likely pathogenic | 5 | 218535 | 218535 | GT | G | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_004168.4(SDHA):c.1064+1G>T | SDHA | Likely pathogenic | 5 | 233761 | 233761 | G | T | criteria provided, multiple submitters, no conflicts | - |
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