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。
ウィルムス腫瘍
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_000059.4(BRCA2):c.1733del (p.Gly578fs) | BRCA2 | Pathogenic | 13 | 32907347 | 32907347 | AG | A | reviewed by expert panel | ClinGen:CA10585930 |
| Duplication | NM_000059.4(BRCA2):c.1821dup (p.Asp608fs) | BRCA2 | Pathogenic | 13 | 32907433 | 32907434 | G | GA | reviewed by expert panel | ClinGen:CA10585931 |
| Deletion | NM_000059.4(BRCA2):c.4769del (p.Lys1590fs) | BRCA2 | Pathogenic | 13 | 32913259 | 32913259 | CA | C | reviewed by expert panel | ClinGen:CA10585932 |
| Insertion | NM_000059.4(BRCA2):c.5379_5380insTT (p.Val1794fs) | BRCA2 | Pathogenic | 13 | 32913870 | 32913871 | A | ATT | reviewed by expert panel | ClinGen:CA10585933 |
| Indel | NM_000059.3(BRCA2):c.7508_7521delinsG (p.Val2503fs) | BRCA2 | Pathogenic | 13 | 32930637 | 32930650 | TCTTTCCACAGCCA | G | reviewed by expert panel | ClinGen:CA10585934 |
| Deletion | NM_000059.4(BRCA2):c.7914del (p.Pro2639fs) | BRCA2 | Pathogenic | 13 | 32936766 | 32936766 | CT | C | reviewed by expert panel | ClinGen:CA10585935 |
| Deletion | NM_000059.4(BRCA2):c.7919_7928del (p.Lys2640fs) | BRCA2 | Pathogenic | 13 | 32936773 | 32936782 | AAGGAATTTGC | A | reviewed by expert panel | ClinGen:CA10585936 |
| Deletion | NM_000059.4(BRCA2):c.1667del (p.Asn556fs) | BRCA2 | Pathogenic | 13 | 32907280 | 32907280 | CA | C | reviewed by expert panel | ClinGen:CA10586051 |
| Deletion | NM_000059.4(BRCA2):c.2034_2038del (p.Asn679fs) | BRCA2 | Pathogenic | 13 | 32910525 | 32910529 | AATAAT | A | reviewed by expert panel | ClinGen:CA10586054 |
| Deletion | NM_000059.4(BRCA2):c.2244_2245del (p.Tyr748_Ser749delinsTer) | BRCA2 | Pathogenic | 13 | 32910735 | 32910736 | TAC | T | reviewed by expert panel | ClinGen:CA10586056 |
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