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.1977_1978del (p.Val660fs) | BRCA1 | Pathogenic | 17 | 41245570 | 41245571 | ACT | A | reviewed by expert panel | ClinGen:CA057671 |
| Deletion | NM_007294.4(BRCA1):c.1961_1962del (p.Lys654fs) | BRCA1 | Pathogenic | 17 | 41245586 | 41245587 | ACT | A | reviewed by expert panel | ClinGen:CA10586653 |
| Duplication | NM_007294.4(BRCA1):c.1842_1843dup (p.Ser615fs) | BRCA1 | Pathogenic | 17 | 41245704 | 41245705 | G | GAC | reviewed by expert panel | ClinGen:CA8589950 |
| Deletion | NM_007294.4(BRCA1):c.1839_1840del (p.Lys614fs) | BRCA1 | Pathogenic | 17 | 41245708 | 41245709 | TTC | T | reviewed by expert panel | ClinGen:CA057553 |
| Deletion | NM_007294.4(BRCA1):c.1826del (p.Asn609fs) | BRCA1 | Pathogenic | 17 | 41245722 | 41245722 | AT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1944&base_change=del A,ClinGen:CA001187 |
| Deletion | NM_007294.4(BRCA1):c.1733_1734del (p.Ser578fs) | BRCA1 | Pathogenic | 17 | 41245814 | 41245815 | CAG | C | reviewed by expert panel | ClinGen:CA10586654 |
| Duplication | NM_007294.4(BRCA1):c.1650dup (p.Ser551Ter) | BRCA1 | Pathogenic | 17 | 41245897 | 41245898 | T | TA | reviewed by expert panel | ClinGen:CA8589952 |
| single nucleotide variant | NM_007294.4(BRCA1):c.1543G>T (p.Glu515Ter) | BRCA1 | Pathogenic | 17 | 41246005 | 41246005 | C | A | reviewed by expert panel | ClinGen:CA10586655 |
| Deletion | NM_007294.4(BRCA1):c.1257del (p.Asp420fs) | BRCA1 | Pathogenic | 17 | 41246291 | 41246291 | CT | C | reviewed by expert panel | ClinGen:CA10586656 |
| Deletion | NM_007294.4(BRCA1):c.1190del (p.Asp397fs) | BRCA1 | Pathogenic | 17 | 41246358 | 41246358 | GT | G | reviewed by expert panel | ClinGen:CA057081 |
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