Knowledge base for genomic medicine in Japanese
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特発性拡張型心筋症
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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) | ||||||||||
| Deletion | NC_000002.11:g.(?_219135239)_(220290732_?)del | DES | Pathogenic | 2 | 219135239 | 220290732 | na | na | criteria provided, single submitter | - |
| Deletion | NM_000335.5(SCN5A):c.5282del (p.Ile1761fs) | SCN5A | Likely pathogenic | 3 | 38592578 | 38592578 | GA | G | criteria provided, single submitter | ClinGen:CA10588359 |
| single nucleotide variant | NM_000335.5(SCN5A):c.467G>A (p.Trp156Ter) | SCN5A | Pathogenic | 3 | 38663906 | 38663906 | C | T | criteria provided, single submitter | ClinGen:CA10602880 |
| single nucleotide variant | NM_000335.5(SCN5A):c.3619G>T (p.Glu1207Ter) | SCN5A | Pathogenic | 3 | 38616832 | 38616832 | C | A | criteria provided, single submitter | ClinGen:CA10602904 |
| single nucleotide variant | NM_000335.5(SCN5A):c.1255C>T (p.Gln419Ter) | SCN5A | Likely pathogenic | 3 | 38647525 | 38647525 | G | A | criteria provided, single submitter | ClinGen:CA16043398 |
| single nucleotide variant | NM_001267550.2(TTN):c.103945C>T (p.Arg34649Ter) | TTN | Likely pathogenic | 2 | 179397397 | 179397397 | G | A | criteria provided, single submitter | - |
| Deletion | NM_001267550.2(TTN):c.102718_102719del (p.Thr34240fs) | TTN | Likely pathogenic | 2 | 179398623 | 179398624 | GGT | G | criteria provided, single submitter | - |
| single nucleotide variant | NM_001267550.2(TTN):c.101728G>T (p.Glu33910Ter) | TTN | Likely pathogenic | 2 | 179399614 | 179399614 | C | A | criteria provided, multiple submitters, no conflicts | - |
| Indel | NM_001267550.2(TTN):c.100942_100944delinsT (p.Arg33648fs) | TTN | Likely pathogenic | 2 | 179400398 | 179400400 | TCT | A | criteria provided, single submitter | - |
| Deletion | NM_001267550.2(TTN):c.86354_86821+291del | TTN | Likely pathogenic | 2 | 179423747 | 179424505 | CTGTGTATATATATATATAAACATGTATACCTACATATATATACAGTTAGATTCAATAATACTTAAATTCAACATATATTATCCAATTTTAGCTACGTAAATTTCTGTTTTTTTAATCAATGAAAGACTCTTCACTAGAGATTCCATTTTGTGCCATAGTATGAATAGTTTGGGGTGTGAAGGGTGTGAACCCAAAAGCATTTAAGATGAAATAACGACTAATTAGAATGACTCACACTATTCTAGCAAAATTAACGTGGATATGTAGAATTTCCTTATTCTTAAAACATACCTGTTATTTTTACTCCTTCCTTTGTTTCAGCTGGTATACCAACACCAAACTCATTTTCTCCAGAGACTCTGAAGTAATAGATAGCTCCTTCTTGTAAATTGGTAACTTTGTAGGAGAGGCGGTTACAGTTGTTGGTCACAGAGACCCATGCTTTCTTGCTGGCCTCACGTTTTTCTATGTGGTAATTCTTCACTGGTGCTCCACCATCGTTTTCAGGAACATCCCAGGATAACACTGCAGACTCTTTGGTTACATCTTGCACAGTAATGTTGGTTGGAGGACCTGGGGTATCTAAAACTTTGACAACTAAGGTCAGTGAAGCAGCACTCAAAACATTCTGAATTGTTAATGTGTACTTTCCAGAGTCATTTCTGTTGGCATTTTCAATGGTCAGTGATGTACGAGAGTCTGTGGTATCAACATAAGCTCTAGTACGGAGGTCAGTGTCTGGCTTACTCCACAAGACAT | C | criteria provided, single submitter | - |
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