Knowledge base for genomic medicine in Japanese
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遺伝性乳がん・卵巣がん症候群
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) | ||||||||||
| single nucleotide variant | NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter) | BRCA1 | Pathogenic | 17 | 41197751 | 41197751 | G | A | reviewed by expert panel | ClinGen:CA003704 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5541C>A (p.Cys1847Ter) | BRCA1 | Pathogenic | 17 | 41197746 | 41197746 | G | T | reviewed by expert panel | ClinGen:CA003706 |
| Deletion | NM_007294.4(BRCA1):c.5548del (p.Leu1850fs) | BRCA1 | Pathogenic | 17 | 41197739 | 41197739 | AG | A | reviewed by expert panel | ClinGen:CA003707 |
| Duplication | NM_007294.4(BRCA1):c.5553dup (p.Thr1852fs) | BRCA1 | Pathogenic | 17 | 41197733 | 41197734 | T | TG | reviewed by expert panel | ClinGen:CA328027 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys) | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41197729 | 41197729 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA003714 |
| Duplication | NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter) | BRCA1 | Pathogenic | 17 | 41197728 | 41197729 | G | GT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):5677&base_change=ins A,ClinGen:CA003713,OMIM:113705.0019 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5559C>A (p.Tyr1853Ter) | BRCA1 | Pathogenic | 17 | 41197728 | 41197728 | G | T | reviewed by expert panel | ClinGen:CA003715 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5559C>G (p.Tyr1853Ter) | BRCA1 | Pathogenic | 17 | 41197728 | 41197728 | G | C | reviewed by expert panel | ClinGen:CA003716 |
| single nucleotide variant | NM_007294.4(BRCA1):c.55C>T (p.Gln19Ter) | BRCA1 | Pathogenic | 17 | 41276059 | 41276059 | G | A | reviewed by expert panel | ClinGen:CA003737 |
| Insertion | NM_007294.4(BRCA1):c.569_570insAACG (p.Val191fs) | BRCA1 | Pathogenic | 17 | 41249284 | 41249285 | G | GCGTT | criteria provided, single submitter | ClinGen:CA003740 |
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