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。
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.3145del (p.Ser1049fs) | BRCA1 | Pathogenic | 17 | 41244403 | 41244403 | GA | G | reviewed by expert panel | ClinGen:CA002051 |
| Deletion | NM_007294.4(BRCA1):c.3155del (p.Asn1052fs) | BRCA1 | Pathogenic | 17 | 41244393 | 41244393 | AT | A | reviewed by expert panel | ClinGen:CA002056 |
| Deletion | NM_007294.4(BRCA1):c.3157del (p.Glu1053fs) | BRCA1 | Pathogenic | 17 | 41244391 | 41244391 | TC | T | reviewed by expert panel | ClinGen:CA002057 |
| Duplication | NM_007294.4(BRCA1):c.3157dup (p.Glu1053fs) | BRCA1 | Pathogenic | 17 | 41244390 | 41244391 | T | TC | reviewed by expert panel | ClinGen:CA327858 |
| Deletion | NM_007294.4(BRCA1):c.3164del (p.Gly1055fs) | BRCA1 | Pathogenic | 17 | 41244384 | 41244384 | GC | G | reviewed by expert panel | ClinGen:CA002061 |
| Deletion | NM_007294.4(BRCA1):c.3168del (p.Ser1057fs) | BRCA1 | Pathogenic | 17 | 41244380 | 41244380 | TG | T | reviewed by expert panel | ClinGen:CA002063 |
| Deletion | NM_007294.4(BRCA1):c.3169_3172del (p.Ser1057fs) | BRCA1 | Pathogenic | 17 | 41244376 | 41244379 | ATACT | A | reviewed by expert panel | ClinGen:CA002064 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter) | BRCA1 | Pathogenic | 17 | 41244370 | 41244370 | C | A | reviewed by expert panel | ClinGen:CA002070 |
| Deletion | NM_007294.4(BRCA1):c.317del (p.Asn106fs) | BRCA1 | Pathogenic | 17 | 41256263 | 41256263 | AT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):436&base_change=del A,ClinGen:CA002072 |
| Deletion | NM_007294.4(BRCA1):c.3181del (p.Glu1060_Ile1061insTer) | BRCA1 | Pathogenic | 17 | 41244367 | 41244367 | AT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3300&base_change=del A,ClinGen:CA002073 |
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