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.5114_5121del (p.Leu1705fs) | BRCA1 | Pathogenic | 17 | 41215922 | 41215929 | CAATTCCTA | C | reviewed by expert panel | ClinGen:CA10589618 |
| Insertion | NM_007294.4(BRCA1):c.5083_5084insG (p.Phe1695fs) | BRCA1 | Pathogenic | 17 | 41215959 | 41215960 | A | AC | reviewed by expert panel | ClinGen:CA10589619 |
| Deletion | NM_007294.4(BRCA1):c.5076del (p.Asp1692fs) | BRCA1 | Pathogenic | 17 | 41215967 | 41215967 | CA | C | reviewed by expert panel | ClinGen:CA10589620 |
| Deletion | NM_007294.4(BRCA1):c.4987_5074del (p.Val1665Serfs) | BRCA1 | Pathogenic | 17 | 41219625 | 41219712 | CCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACACGAGCAT | C | reviewed by expert panel | LOVD 3:BRCA1_003367,ClinGen:CA10589621 |
| Duplication | NM_007294.4(BRCA1):c.5065dup (p.Met1689fs) | BRCA1 | Pathogenic | 17 | 41219633 | 41219634 | A | AT | reviewed by expert panel | ClinGen:CA10589622 |
| Insertion | NM_007294.4(BRCA1):c.5058_5059insCAAC (p.Val1687fs) | BRCA1 | Pathogenic | 17 | 41219640 | 41219641 | C | CGTTG | reviewed by expert panel | ClinGen:CA10589623 |
| Indel | NM_007294.4(BRCA1):c.5044_5048delinsT (p.Thr1681_Glu1682insTer) | BRCA1 | Pathogenic | 17 | 41219651 | 41219655 | TCTTC | A | reviewed by expert panel | ClinGen:CA10589624 |
| Insertion | NM_007294.4(BRCA1):c.5041_5042insTTAA (p.Thr1681fs) | BRCA1 | Pathogenic | 17 | 41219657 | 41219658 | G | GTTAA | reviewed by expert panel | ClinGen:CA10589625 |
| Deletion | NM_007294.4(BRCA1):c.5042del (p.Thr1681fs) | BRCA1 | Pathogenic | 17 | 41219657 | 41219657 | AG | A | reviewed by expert panel | ClinGen:CA10589626 |
| Duplication | NM_007294.4(BRCA1):c.5038_5041dup (p.Thr1681fs) | BRCA1 | Pathogenic | 17 | 41219657 | 41219658 | G | GTAAT | reviewed by expert panel | ClinGen:CA10589627 |
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