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) | ||||||||||
| Insertion | NM_000059.4(BRCA2):c.6839_6840insA (p.Glu2282fs) | BRCA2 | Pathogenic | 13 | 32915331 | 32915332 | T | TA | criteria provided, single submitter | ClinGen:CA658683814 |
| Duplication | NM_000059.4(BRCA2):c.8052_8053dup (p.Thr2685fs) | BRCA2 | Pathogenic | 13 | 32937387 | 32937388 | C | CAA | criteria provided, single submitter | ClinGen:CA658683809 |
| Deletion | NM_000059.4(BRCA2):c.8548del (p.Glu2850fs) | BRCA2 | Pathogenic | 13 | 32945152 | 32945152 | AG | A | criteria provided, single submitter | ClinGen:CA658683836 |
| Duplication | NM_007294.4(BRCA1):c.5194-10_5236dup | BRCA1 | Pathogenic | 17 | 41209109 | 41209110 | T | TGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAA | criteria provided, single submitter | ClinGen:CA658684094 |
| Deletion | NM_007294.4(BRCA1):c.4818del (p.Val1607fs) | BRCA1 | Pathogenic | 17 | 41223113 | 41223113 | CT | C | criteria provided, single submitter | ClinGen:CA658684115 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3535A>T (p.Lys1179Ter) | BRCA1 | Pathogenic | 17 | 41244013 | 41244013 | T | A | criteria provided, single submitter | ClinGen:CA10594898 |
| Deletion | NM_007294.4(BRCA1):c.2511del (p.Asn838fs) | BRCA1 | Pathogenic | 17 | 41245037 | 41245037 | TA | T | criteria provided, single submitter | ClinGen:CA658684086 |
| Deletion | NM_007294.4(BRCA1):c.1292_1295del (p.Leu431fs) | BRCA1 | Pathogenic | 17 | 41246253 | 41246256 | CAGTA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658684119 |
| Duplication | NM_007294.4(BRCA1):c.849dup (p.Gln284fs) | BRCA1 | Pathogenic | 17 | 41246698 | 41246699 | G | GT | criteria provided, single submitter | ClinGen:CA658684121 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2709T>A (p.Cys903Ter) | BRCA1 | Pathogenic | 17 | 41244839 | 41244839 | A | T | criteria provided, single submitter | ClinGen:CA10596579,OMIM:113705.0042 |
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