Knowledge base for genomic medicine in Japanese
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ウィルムス腫瘍
腫瘍性疾患
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) | ||||||||||
| Deletion | NM_000059.3(BRCA2):c.-39-?_67+?del | BRCA2 | Pathogenic | 13 | 32890559 | 32890664 | na | na | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_000059.4(BRCA2):c.7598_7617+263del | BRCA2 | Pathogenic | 13 | 32930726 | 32931008 | CTCTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGCTTTTATGACAGAGTGTAATTTTATTTCATTAACTAGTATCTACAAATGGCTTTGTTTAAAGAATGAACACATTAGTGCAGGAATGGATGAATGAAATCATCATATTTTCTAATTAGCCTGCAGTGGCAGCCTCTGGCCCCTTGCTAGGCCTGCCTCATCCTGCTAAAGTGATCTGTGCTTCCAAATTACTACTTCTTTTCCCCCTTCAAATCTTTCTTATTTTGTCATTGTAAA | C | criteria provided, single submitter | ClinGen:CA10586327 |
| Deletion | NM_000059.4(BRCA2):c.120_123del (p.Pro41fs) | BRCA2 | Pathogenic | 13 | 32893264 | 32893267 | TCCAC | T | reviewed by expert panel | ClinGen:CA10586479 |
| Duplication | NM_000059.4(BRCA2):c.204dup (p.Pro69fs) | BRCA2 | Pathogenic | 13 | 32893347 | 32893348 | G | GA | reviewed by expert panel | ClinGen:CA10586480 |
| Deletion | NM_000059.4(BRCA2):c.391del (p.Ser131fs) | BRCA2 | Pathogenic | 13 | 32899285 | 32899285 | GT | G | reviewed by expert panel | ClinGen:CA019091 |
| Deletion | NM_000059.4(BRCA2):c.419del (p.Ser140fs) | BRCA2 | Pathogenic | 13 | 32899315 | 32899315 | AG | A | reviewed by expert panel | ClinGen:CA10586481 |
| Deletion | NM_000059.4(BRCA2):c.486del (p.Ser163fs) | BRCA2 | Pathogenic | 13 | 32900387 | 32900387 | TG | T | reviewed by expert panel | ClinGen:CA020912 |
| single nucleotide variant | NM_000059.4(BRCA2):c.523C>T (p.Gln175Ter) | BRCA2 | Pathogenic | 13 | 32900642 | 32900642 | C | T | reviewed by expert panel | ClinGen:CA6940396 |
| Deletion | NM_000059.4(BRCA2):c.541del (p.Ser181fs) | BRCA2 | Pathogenic | 13 | 32900658 | 32900658 | AT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):767&base_change=del T,ClinGen:CA022226 |
| single nucleotide variant | NM_000059.4(BRCA2):c.584C>G (p.Ser195Ter) | BRCA2 | Pathogenic | 13 | 32900703 | 32900703 | C | G | reviewed by expert panel | ClinGen:CA10586482 |
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