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) | ||||||||||
| Deletion | NM_007294.4(BRCA1):c.5302del (p.Cys1768fs) | BRCA1 | Pathogenic | 17 | 41203110 | 41203110 | CA | C | reviewed by expert panel | ClinGen:CA10589598 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5301T>A (p.Cys1767Ter) | BRCA1 | Pathogenic | 17 | 41203111 | 41203111 | A | T | reviewed by expert panel | ClinGen:CA10589599 |
| Deletion | NM_007294.4(BRCA1):c.5300_5301del (p.Cys1767fs) | BRCA1 | Pathogenic | 17 | 41203111 | 41203112 | AAC | A | reviewed by expert panel | ClinGen:CA10589600 |
| Deletion | NM_007294.4(BRCA1):c.5299del (p.Cys1767fs) | BRCA1 | Pathogenic | 17 | 41203113 | 41203113 | CA | C | reviewed by expert panel | ClinGen:CA10589601 |
| Deletion | NM_007294.4(BRCA1):c.5282del (p.Phe1761fs) | BRCA1 | Pathogenic | 17 | 41203130 | 41203130 | GA | G | reviewed by expert panel | ClinGen:CA10589602 |
| Insertion | NM_007294.4(BRCA1):c.5267_5268insC (p.Gln1756fs) | BRCA1 | Pathogenic | 17 | 41209078 | 41209079 | C | CG | reviewed by expert panel | ClinGen:CA10589603 |
| Indel | NM_007294.4(BRCA1):c.5208_5247delinsTC (p.Arg1737fs) | BRCA1 | Pathogenic | 17 | 41209099 | 41209138 | TGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTG | GA | reviewed by expert panel | ClinGen:CA10589604 |
| Deletion | NM_007294.4(BRCA1):c.5239del (p.Gln1747fs) | BRCA1 | Pathogenic | 17 | 41209107 | 41209107 | TG | T | reviewed by expert panel | ClinGen:CA10589605 |
| Duplication | NM_007294.4(BRCA1):c.5239dup (p.Gln1747fs) | BRCA1 | Pathogenic | 17 | 41209106 | 41209107 | T | TG | reviewed by expert panel | ClinGen:CA10589606 |
| Deletion | NM_007294.4(BRCA1):c.5230_5237del (p.Arg1744fs) | BRCA1 | Pathogenic | 17 | 41209109 | 41209116 | GTGGTTTCT | G | reviewed by expert panel | ClinGen:CA10589607 |
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