Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
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.1700dup (p.Asn567fs) | BRCA1 | Pathogenic | 17 | 41245847 | 41245848 | A | AT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1819&base_change=ins A,ClinGen:CA001112 |
| Insertion | NM_007294.4(BRCA1):c.70_71insA (p.Cys24Ter) | BRCA1 | Pathogenic | 17 | 41276043 | 41276044 | C | CT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):189&base_change=ins A,ClinGen:CA003824 |
| Insertion | NM_007294.4(BRCA1):c.70_71insTGTC (p.Cys24fs) | BRCA1 | Pathogenic | 17 | 41276043 | 41276044 | C | CGACA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):189&base_change=ins TGTC,ClinGen:CA003825 |
| Deletion | NM_007294.4(BRCA1):c.1812del (p.Ala605fs) | BRCA1 | Pathogenic | 17 | 41245736 | 41245736 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1931&base_change=del A,ClinGen:CA001175 |
| single nucleotide variant | NM_007294.4(BRCA1):c.80+1G>C | BRCA1 | Pathogenic | 17 | 41276033 | 41276033 | C | G | criteria provided, multiple submitters, no conflicts | Breast Cancer Information Core (BIC) (BRCA1):199+1&base_change=G to C,ClinGen:CA003885 |
| single nucleotide variant | NM_007294.4(BRCA1):c.80+1G>T | BRCA1 | Pathogenic | 17 | 41276033 | 41276033 | C | A | criteria provided, multiple submitters, no conflicts | Breast Cancer Information Core (BIC) (BRCA1):199+1&base_change=G to T,ClinGen:CA003886 |
| single nucleotide variant | NM_007294.4(BRCA1):c.80+2T>G | BRCA1 | Pathogenic | 17 | 41276032 | 41276032 | A | C | criteria provided, multiple submitters, no conflicts | Breast Cancer Information Core (BIC) (BRCA1):199+2&base_change=T to G,ClinGen:CA003887 |
| single nucleotide variant | NM_007294.4(BRCA1):c.80+5G>A | BRCA1 | Pathogenic | 17 | 41276029 | 41276029 | C | T | criteria provided, multiple submitters, no conflicts | Breast Cancer Information Core (BIC) (BRCA1):199+5&base_change=G to A,ClinGen:CA003889 |
| Insertion | NM_007294.4(BRCA1):c.1893_1894insT (p.Ser632Ter) | BRCA1 | Pathogenic | 17 | 41245654 | 41245655 | T | TA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2012&base_change=ins T,ClinGen:CA001231 |
| Insertion | NM_007294.4(BRCA1):c.2038_2039insCC (p.Lys680fs) | BRCA1 | Pathogenic | 17 | 41245509 | 41245510 | T | TGG | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2157&base_change=ins CC,ClinGen:CA001354 |
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