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.2361del (p.Val788fs) | BRCA1 | Pathogenic | 17 | 41245187 | 41245187 | CT | C | reviewed by expert panel | ClinGen:CA10589859 |
| Duplication | NM_007294.4(BRCA1):c.2346dup (p.Ile783fs) | BRCA1 | Pathogenic | 17 | 41245201 | 41245202 | T | TA | reviewed by expert panel | ClinGen:CA10589860 |
| Deletion | NM_007294.4(BRCA1):c.2340_2343del (p.Glu781fs) | BRCA1 | Pathogenic | 17 | 41245205 | 41245208 | TTTCC | T | reviewed by expert panel | ClinGen:CA10589861 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2331T>G (p.Tyr777Ter) | BRCA1 | Pathogenic | 17 | 41245217 | 41245217 | A | C | reviewed by expert panel | ClinGen:CA10589862 |
| Deletion | NM_007294.4(BRCA1):c.2322del (p.Thr775fs) | BRCA1 | Pathogenic | 17 | 41245226 | 41245226 | TA | T | reviewed by expert panel | ClinGen:CA10589863 |
| Deletion | NM_007294.4(BRCA1):c.2314_2315del (p.Val772fs) | BRCA1 | Pathogenic | 17 | 41245233 | 41245234 | TAC | T | reviewed by expert panel | ClinGen:CA10589864 |
| Deletion | NM_007294.4(BRCA1):c.2307_2313del (p.Ile769fs) | BRCA1 | Pathogenic | 17 | 41245235 | 41245241 | CCAATGAA | C | reviewed by expert panel | ClinGen:CA10589865 |
| Insertion | NM_007294.4(BRCA1):c.2311_2312insC (p.Leu771fs) | BRCA1 | Pathogenic | 17 | 41245236 | 41245237 | A | AG | reviewed by expert panel | ClinGen:CA10589866 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2309C>G (p.Ser770Ter) | BRCA1 | Pathogenic | 17 | 41245239 | 41245239 | G | C | reviewed by expert panel | ClinGen:CA10589867 |
| Deletion | NM_007294.4(BRCA1):c.2273del (p.Leu758fs) | BRCA1 | Pathogenic | 17 | 41245275 | 41245275 | CA | C | reviewed by expert panel | ClinGen:CA10589868 |
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