Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
家族性膵がん
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_000059.4(BRCA2):c.5400C>G (p.Tyr1800Ter) | BRCA2 | Pathogenic | 13 | 32913892 | 32913892 | C | G | reviewed by expert panel | ClinGen:CA16619724 |
| Duplication | NM_000059.4(BRCA2):c.5465dup (p.Asn1822fs) | BRCA2 | Pathogenic | 13 | 32913952 | 32913953 | C | CA | reviewed by expert panel | ClinGen:CA16619726 |
| Deletion | NM_000059.4(BRCA2):c.5593del (p.Ile1865fs) | BRCA2 | Pathogenic | 13 | 32914085 | 32914085 | CA | C | reviewed by expert panel | ClinGen:CA16619727 |
| Deletion | NM_000059.4(BRCA2):c.6263del (p.Thr2088fs) | BRCA2 | Pathogenic | 13 | 32914755 | 32914755 | AC | A | reviewed by expert panel | ClinGen:CA16619738 |
| Insertion | NM_000059.4(BRCA2):c.6273_6274insA (p.Leu2092fs) | BRCA2 | Pathogenic | 13 | 32914765 | 32914766 | T | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA16619740 |
| Deletion | NM_000059.4(BRCA2):c.6379del (p.Ser2127fs) | BRCA2 | Pathogenic | 13 | 32914871 | 32914871 | CA | C | reviewed by expert panel | ClinGen:CA16619743 |
| Deletion | NM_000059.4(BRCA2):c.6480del (p.Asp2161fs) | BRCA2 | Pathogenic | 13 | 32914971 | 32914971 | CA | C | reviewed by expert panel | ClinGen:CA16619748 |
| Deletion | NM_000059.4(BRCA2):c.6662del (p.Asn2221fs) | BRCA2 | Pathogenic | 13 | 32915151 | 32915151 | GA | G | reviewed by expert panel | ClinGen:CA16619751 |
| Deletion | NM_000059.4(BRCA2):c.6986_6990del (p.Pro2329fs) | BRCA2 | Pathogenic | 13 | 32921012 | 32921016 | CCGATT | C | reviewed by expert panel | ClinGen:CA16619755 |
| Deletion | NM_000059.4(BRCA2):c.7165_7169del (p.Thr2388_Arg2389insTer) | BRCA2 | Pathogenic | 13 | 32929154 | 32929158 | CAAGAA | C | reviewed by expert panel | ClinGen:CA16619758 |
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