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) | ||||||||||
| Duplication | NM_007294.4(BRCA1):c.2848dup (p.Ser950fs) | BRCA1 | Pathogenic | 17 | 41244699 | 41244700 | G | GA | reviewed by expert panel | ClinGen:CA327840 |
| Deletion | NM_007294.4(BRCA1):c.2856_2857del (p.Phe952fs) | BRCA1 | Pathogenic | 17 | 41244691 | 41244692 | CAA | C | reviewed by expert panel | ClinGen:CA001859 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2864C>A (p.Ser955Ter) | BRCA1 | Pathogenic | 17 | 41244684 | 41244684 | G | T | reviewed by expert panel | ClinGen:CA001866 |
| Deletion | NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs) | BRCA1 | Pathogenic | 17 | 41244678 | 41244682 | CTGAGA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2985&base_change=del TCTCA,Breast Cancer Information Core (BIC) (BRCA1):2982&base_change=del TCATC,ClinGen:CA001864 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2869C>T (p.Gln957Ter) | BRCA1 | Pathogenic | 17 | 41244679 | 41244679 | G | A | reviewed by expert panel | ClinGen:CA001870 |
| Duplication | NM_007294.4(BRCA1):c.2870dup (p.Phe958fs) | BRCA1 | Pathogenic | 17 | 41244677 | 41244678 | C | CT | reviewed by expert panel | ClinGen:CA327841 |
| Deletion | NM_007294.4(BRCA1):c.2872_2876del (p.Phe958fs) | BRCA1 | Pathogenic | 17 | 41244672 | 41244676 | TCTGAA | T | reviewed by expert panel | ClinGen:CA001873 |
| Deletion | NM_007294.4(BRCA1):c.2887del (p.Thr963fs) | BRCA1 | Pathogenic | 17 | 41244661 | 41244661 | GT | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3006&base_change=del A,ClinGen:CA001882 |
| Deletion | NM_007294.4(BRCA1):c.2910del (p.Lys970fs) | BRCA1 | Pathogenic | 17 | 41244638 | 41244638 | GT | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3029&base_change=del A,ClinGen:CA001896 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2914G>T (p.Gly972Ter) | BRCA1 | Pathogenic | 17 | 41244634 | 41244634 | C | A | reviewed by expert panel | ClinGen:CA001900 |
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