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.2666dup (p.Gly890fs) | BRCA1 | Pathogenic | 17 | 41244881 | 41244882 | A | AG | reviewed by expert panel | ClinGen:CA10580607 |
| Duplication | NM_007294.4(BRCA1):c.2433dup (p.Lys812fs) | BRCA1 | Pathogenic | 17 | 41245114 | 41245115 | T | TG | reviewed by expert panel | ClinGen:CA10580615 |
| Deletion | NM_007294.4(BRCA1):c.2402del (p.Cys801fs) | BRCA1 | Pathogenic | 17 | 41245146 | 41245146 | AC | A | reviewed by expert panel | ClinGen:CA10580617 |
| Indel | NM_007294.4(BRCA1):c.2386_2387delinsT (p.Lys795_Thr796insTer) | BRCA1 | Pathogenic | 17 | 41245161 | 41245162 | GT | A | reviewed by expert panel | ClinGen:CA10580619 |
| Deletion | NM_007294.4(BRCA1):c.2362del (p.Val788fs) | BRCA1 | Pathogenic | 17 | 41245186 | 41245186 | AC | A | reviewed by expert panel | ClinGen:CA10580621 |
| Deletion | NM_007294.4(BRCA1):c.2289del (p.Ser763_Val764insTer) | BRCA1 | Pathogenic | 17 | 41245259 | 41245259 | CA | C | reviewed by expert panel | ClinGen:CA10580623 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2101A>T (p.Lys701Ter) | BRCA1 | Pathogenic | 17 | 41245447 | 41245447 | T | A | reviewed by expert panel | ClinGen:CA10580635 |
| Duplication | NM_007294.4(BRCA1):c.1836dup (p.Arg613fs) | BRCA1 | Pathogenic | 17 | 41245711 | 41245712 | T | TC | reviewed by expert panel | ClinGen:CA10580647 |
| Indel | NM_007294.4(BRCA1):c.1768_1770delinsC (p.Ser590fs) | BRCA1 | Pathogenic | 17 | 41245778 | 41245780 | ACT | G | reviewed by expert panel | ClinGen:CA10580652 |
| Indel | NM_007294.4(BRCA1):c.1542_1550delinsCG (p.Glu515fs) | BRCA1 | Pathogenic | 17 | 41245998 | 41246006 | AAATCCTCA | CG | reviewed by expert panel | ClinGen:CA10580661 |
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