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.5503_5506del (p.Arg1835fs) | BRCA1 | Pathogenic | 17 | 41197781 | 41197784 | TCTCG | T | reviewed by expert panel | ClinGen:CA10589587 |
| Duplication | NM_007294.4(BRCA1):c.5502_5503dup (p.Arg1835fs) | BRCA1 | Pathogenic | 17 | 41197783 | 41197784 | C | CGG | reviewed by expert panel | ClinGen:CA10589588 |
| Duplication | NM_007294.4(BRCA1):c.5503dup (p.Arg1835fs) | BRCA1 | Pathogenic | 17 | 41197783 | 41197784 | C | CG | reviewed by expert panel | ClinGen:CA10589589 |
| Insertion | NM_007294.4(BRCA1):c.5493_5494insTT (p.Val1832fs) | BRCA1 | Pathogenic | 17 | 41197793 | 41197794 | C | CAA | reviewed by expert panel | ClinGen:CA10589590 |
| Duplication | NM_007294.4(BRCA1):c.5419dup (p.Ile1807fs) | BRCA1 | Pathogenic | 17 | 41199707 | 41199708 | A | AT | reviewed by expert panel | ClinGen:CA10589591 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5390C>G (p.Ser1797Ter) | BRCA1 | Pathogenic | 17 | 41201154 | 41201154 | G | C | reviewed by expert panel | ClinGen:CA10589592 |
| Duplication | NM_007294.4(BRCA1):c.5389dup (p.Ser1797fs) | BRCA1 | Pathogenic | 17 | 41201154 | 41201155 | G | GA | reviewed by expert panel | ClinGen:CA10589593 |
| Duplication | NM_007294.4(BRCA1):c.5353_5354dup (p.Gln1785fs) | BRCA1 | Pathogenic | 17 | 41201189 | 41201190 | C | CTG | reviewed by expert panel | ClinGen:CA10589595 |
| Deletion | NM_007294.4(BRCA1):c.5348del (p.Met1783fs) | BRCA1 | Pathogenic | 17 | 41201196 | 41201196 | CA | C | reviewed by expert panel | ClinGen:CA10589596 |
| Indel | NM_007294.4(BRCA1):c.5341_5343delinsTG (p.Glu1781fs) | BRCA1 | Pathogenic | 17 | 41201201 | 41201203 | TTC | CA | reviewed by expert panel | ClinGen:CA10589597 |
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