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.4457del (p.Ser1486fs) | BRCA1 | Pathogenic | 17 | 41228532 | 41228532 | AC | A | reviewed by expert panel | ClinGen:CA002860 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4480G>T (p.Glu1494Ter) | BRCA1 | Pathogenic | 17 | 41228509 | 41228509 | C | A | reviewed by expert panel | ClinGen:CA002868 |
| Deletion | NM_007294.4(BRCA1):c.4484+1del | BRCA1 | Pathogenic | 17 | 41228504 | 41228504 | AC | A | reviewed by expert panel | ClinGen:CA002872 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4485-1G>A | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41226539 | 41226539 | C | T | criteria provided, multiple submitters, no conflicts | Breast Cancer Information Core (BIC) (BRCA1):4604-1&base_change=G to A,ClinGen:CA002878 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4485-2A>G | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41226540 | 41226540 | T | C | criteria provided, multiple submitters, no conflicts | Breast Cancer Information Core (BIC) (BRCA1):4604-2&base_change=A to G,ClinGen:CA002879 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4487C>A (p.Ser1496Ter) | BRCA1 | Pathogenic | 17 | 41226536 | 41226536 | G | T | reviewed by expert panel | ClinGen:CA002883 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4487C>G (p.Ser1496Ter) | BRCA1 | Pathogenic | 17 | 41226536 | 41226536 | G | C | reviewed by expert panel | ClinGen:CA002884 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter) | BRCA1 | Pathogenic | 17 | 41226515 | 41226515 | G | T | reviewed by expert panel | ClinGen:CA002889 |
| Deletion | NM_007294.4(BRCA1):c.4516del (p.Asp1506fs) | BRCA1 | Pathogenic | 17 | 41226507 | 41226507 | TC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):4635&base_change=del G,ClinGen:CA002890 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) | BRCA1 | Pathogenic | 17 | 41226499 | 41226499 | C | T | reviewed by expert panel | ClinGen:CA002893 |
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