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.2561_2565del (p.Ala854fs) | BRCA1 | Pathogenic | 17 | 41244983 | 41244987 | ACTGAG | A | reviewed by expert panel | ClinGen:CA001687 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2568T>G (p.Tyr856Ter) | BRCA1 | Pathogenic | 17 | 41244980 | 41244980 | A | C | reviewed by expert panel | ClinGen:CA001694 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2572C>T (p.Gln858Ter) | BRCA1 | Pathogenic | 17 | 41244976 | 41244976 | G | A | reviewed by expert panel | ClinGen:CA001697 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2591C>G (p.Ser864Ter) | BRCA1 | Pathogenic | 17 | 41244957 | 41244957 | G | C | reviewed by expert panel | ClinGen:CA001703 |
| Deletion | NM_007294.4(BRCA1):c.2594del (p.Lys865fs) | BRCA1 | Pathogenic | 17 | 41244954 | 41244954 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2711&base_change=del A,ClinGen:CA001705 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2603C>A (p.Ser868Ter) | BRCA1 | Pathogenic | 17 | 41244945 | 41244945 | G | T | reviewed by expert panel | ClinGen:CA001713 |
| Deletion | NM_007294.4(BRCA1):c.2611_2612del (p.Pro871fs) | BRCA1 | Pathogenic | 17 | 41244936 | 41244937 | CGG | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2730&base_change=del CC,ClinGen:CA001716 |
| Insertion | NM_007294.4(BRCA1):c.2612_2613insT (p.Phe872fs) | BRCA1 | Pathogenic | 17 | 41244935 | 41244936 | C | CA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2731&base_change=ins T,ClinGen:CA001717 |
| Indel | NM_007294.4(BRCA1):c.2612delinsTT (p.Pro871fs) | BRCA1 | Pathogenic | 17 | 41244936 | 41244936 | G | AA | reviewed by expert panel | ClinGen:CA327824 |
| Duplication | NM_007294.4(BRCA1):c.2612dup (p.Phe872fs) | BRCA1 | Pathogenic | 17 | 41244935 | 41244936 | C | CG | reviewed by expert panel | ClinGen:CA327825 |
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