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.2915del (p.Gly972fs) | BRCA1 | Pathogenic | 17 | 41244633 | 41244633 | TC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3034&base_change=del G,ClinGen:CA001901 |
| Deletion | NM_007294.4(BRCA1):c.2920_2921del (p.Leu974fs) | BRCA1 | Pathogenic | 17 | 41244627 | 41244628 | TAA | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3039&base_change=del TT,ClinGen:CA001904 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2921T>A (p.Leu974Ter) | BRCA1 | Pathogenic | 17 | 41244627 | 41244627 | A | T | reviewed by expert panel | ClinGen:CA001908 |
| Duplication | NM_007294.4(BRCA1):c.2921dup (p.Leu974fs) | BRCA1 | Pathogenic | 17 | 41244626 | 41244627 | T | TA | reviewed by expert panel | ClinGen:CA327845 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2923C>T (p.Gln975Ter) | BRCA1 | Pathogenic | 17 | 41244625 | 41244625 | G | A | reviewed by expert panel | ClinGen:CA001911 |
| Duplication | NM_007294.4(BRCA1):c.2929_2930dup (p.Tyr978fs) | BRCA1 | Pathogenic | 17 | 41244617 | 41244618 | T | TGG | reviewed by expert panel | ClinGen:CA327846 |
| Deletion | NM_007294.4(BRCA1):c.2934del (p.Arg979fs) | BRCA1 | Pathogenic | 17 | 41244614 | 41244614 | GA | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3053&base_change=del T,ClinGen:CA001914 |
| Deletion | NM_007294.4(BRCA1):c.2952del (p.Ile986fs) | BRCA1 | Pathogenic | 17 | 41244596 | 41244596 | GA | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3071&base_change=del T,ClinGen:CA001924 |
| Duplication | NM_007294.4(BRCA1):c.2952dup (p.Pro985fs) | BRCA1 | Pathogenic | 17 | 41244595 | 41244596 | G | GA | reviewed by expert panel | ClinGen:CA327847 |
| Deletion | NM_007294.4(BRCA1):c.2955del (p.Ile986fs) | BRCA1 | Pathogenic | 17 | 41244593 | 41244593 | TG | T | reviewed by expert panel | ClinGen:CA001925 |
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