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) | ||||||||||
| single nucleotide variant | NM_007294.4(BRCA1):c.1327A>T (p.Lys443Ter) | BRCA1 | Pathogenic | 17 | 41246221 | 41246221 | T | A | reviewed by expert panel | ClinGen:CA000866 |
| Duplication | NM_007294.4(BRCA1):c.1336dup (p.Arg446fs) | BRCA1 | Pathogenic | 17 | 41246211 | 41246212 | C | CT | reviewed by expert panel | ClinGen:CA000872 |
| single nucleotide variant | NM_007294.4(BRCA1):c.134+2T>C | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41267741 | 41267741 | A | G | criteria provided, multiple submitters, no conflicts | Breast Cancer Information Core (BIC) (BRCA1):253+2&base_change=T to C,Breast Cancer Information Core (BIC) (BRCA1):253+3&base_change=T to C,ClinGen:CA000882 |
| single nucleotide variant | NM_007294.4(BRCA1):c.134+5G>A | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41267738 | 41267738 | C | T | criteria provided, multiple submitters, no conflicts | Breast Cancer Information Core (BIC) (BRCA1):253+5&base_change=G to A,ClinGen:CA000886 |
| Deletion | NM_007294.4(BRCA1):c.1361del (p.Ser454fs) | BRCA1 | Pathogenic | 17 | 41246187 | 41246187 | AC | A | reviewed by expert panel | ClinGen:CA000908 |
| Deletion | NM_007294.4(BRCA1):c.1377_1378del (p.Lys459fs) | BRCA1 | Pathogenic | 17 | 41246170 | 41246171 | ATT | A | reviewed by expert panel | ClinGen:CA000914 |
| single nucleotide variant | NM_007294.4(BRCA1):c.141C>A (p.Cys47Ter) | BRCA1 | Pathogenic | 17 | 41258544 | 41258544 | G | T | reviewed by expert panel | ClinGen:CA000957 |
| Duplication | NM_007294.4(BRCA1):c.1512dup (p.Lys505Ter) | BRCA1 | Pathogenic | 17 | 41246035 | 41246036 | T | TA | reviewed by expert panel | ClinGen:CA001020 |
| Deletion | NM_007294.4(BRCA1):c.1628del (p.Gly543fs) | BRCA1 | Pathogenic | 17 | 41245920 | 41245920 | AC | A | reviewed by expert panel | ClinGen:CA001080 |
| Deletion | NM_007294.4(BRCA1):c.1744del (p.Thr582fs) | BRCA1 | Pathogenic | 17 | 41245804 | 41245804 | GT | G | reviewed by expert panel | ClinGen:CA001142 |
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