Knowledge base for genomic medicine in Japanese
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不整脈原性右室心筋症
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_170707.4(LMNA):c.1489-2A>G | LMNA | Likely pathogenic | 1 | 156106902 | 156106902 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584131 |
| single nucleotide variant | NM_170707.4(LMNA):c.1540T>C (p.Trp514Arg) | LMNA | Pathogenic | 1 | 156106955 | 156106955 | T | C | criteria provided, single submitter | ClinGen:CA10584133 |
| Deletion | NM_004415.4(DSP):c.8077_8080del (p.Lys2693fs) | DSP | Pathogenic | 6 | 7585570 | 7585573 | CAGAA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584684 |
| single nucleotide variant | NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter) | DSP | Pathogenic/Likely pathogenic | 6 | 7585665 | 7585665 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584685 |
| single nucleotide variant | NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter) | DSP | Pathogenic/Likely pathogenic | 6 | 7580426 | 7580426 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586152 |
| Deletion | NM_004572.3(PKP2):c.2146-?_2489+?del | PKP2 | Pathogenic | 12 | 32949043 | 32955490 | na | na | criteria provided, single submitter | - |
| single nucleotide variant | NM_001035.3(RYR2):c.9688C>A (p.Gln3230Lys) | RYR2 | Likely pathogenic | 1 | 237870356 | 237870356 | C | A | criteria provided, single submitter | ClinGen:CA10586347 |
| single nucleotide variant | NM_001035.3(RYR2):c.13737C>A (p.His4579Gln) | RYR2 | Likely pathogenic | 1 | 237955578 | 237955578 | C | A | criteria provided, single submitter | ClinGen:CA10586348 |
| single nucleotide variant | NM_170707.4(LMNA):c.1566C>A (p.Cys522Ter) | LMNA | Pathogenic | 1 | 156106981 | 156106981 | C | A | criteria provided, single submitter | ClinGen:CA10587415 |
| single nucleotide variant | NM_170707.4(LMNA):c.1157G>C (p.Arg386Thr) | LMNA | Pathogenic | 1 | 156105912 | 156105912 | G | C | criteria provided, single submitter | ClinGen:CA10587419 |
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