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.814G>T (p.Glu272Ter) | BRCA1 | Pathogenic | 17 | 41246734 | 41246734 | C | A | reviewed by expert panel | ClinGen:CA10589992 |
| Duplication | NM_007294.4(BRCA1):c.788dup (p.Gly263_Ser264insTer) | BRCA1 | Pathogenic | 17 | 41246759 | 41246760 | A | AC | reviewed by expert panel | ClinGen:CA10589993 |
| Deletion | NM_007294.4(BRCA1):c.784del (p.Gln262fs) | BRCA1 | Pathogenic | 17 | 41246764 | 41246764 | TG | T | reviewed by expert panel | ClinGen:CA10589994 |
| Duplication | NM_007294.4(BRCA1):c.778_779dup (p.Tyr261fs) | BRCA1 | Pathogenic | 17 | 41246768 | 41246769 | C | CTT | reviewed by expert panel | ClinGen:CA10589995 |
| Insertion | NM_007294.4(BRCA1):c.743_744insA (p.Thr249fs) | BRCA1 | Pathogenic | 17 | 41246804 | 41246805 | G | GT | reviewed by expert panel | ClinGen:CA10589997 |
| Insertion | NM_007294.4(BRCA1):c.729_730insGTAACAAATACTGAACATCATCAACCCAGTA (p.Asn244fs) | BRCA1 | Pathogenic | 17 | 41246818 | 41246819 | T | TTACTGGGTTGATGATGTTCAGTATTTGTTAC | reviewed by expert panel | ClinGen:CA10589998 |
| single nucleotide variant | NM_007294.4(BRCA1):c.718C>T (p.Gln240Ter) | BRCA1 | Pathogenic | 17 | 41246830 | 41246830 | G | A | reviewed by expert panel | ClinGen:CA10589999 |
| Deletion | NM_007294.4(BRCA1):c.707del (p.Thr236fs) | BRCA1 | Pathogenic | 17 | 41246841 | 41246841 | AG | A | reviewed by expert panel | ClinGen:CA10590000 |
| Deletion | NM_007294.4(BRCA1):c.704del (p.Asn235fs) | BRCA1 | Pathogenic | 17 | 41246844 | 41246844 | AT | A | reviewed by expert panel | ClinGen:CA10590001 |
| Deletion | NM_007294.4(BRCA1):c.689_692del (p.Glu230fs) | BRCA1 | Pathogenic | 17 | 41246856 | 41246859 | CGTCT | C | reviewed by expert panel | ClinGen:CA10590002 |
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