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) | ||||||||||
| Duplication | NM_007294.4(BRCA1):c.3255dup (p.Leu1086fs) | BRCA1 | Pathogenic | 17 | 41244292 | 41244293 | A | AT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3373&base_change=ins A,ClinGen:CA002102 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3257T>A (p.Leu1086Ter) | BRCA1 | Pathogenic | 17 | 41244291 | 41244291 | A | T | reviewed by expert panel | ClinGen:CA002106 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3257T>G (p.Leu1086Ter) | BRCA1 | Pathogenic | 17 | 41244291 | 41244291 | A | C | reviewed by expert panel | ClinGen:CA002108 |
| Duplication | NM_007294.4(BRCA1):c.3257dup (p.Leu1086fs) | BRCA1 | Pathogenic | 17 | 41244290 | 41244291 | T | TA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3376&base_change=ins T,ClinGen:CA002105 |
| Deletion | NM_007294.4(BRCA1):c.3262del (p.Val1088fs) | BRCA1 | Pathogenic | 17 | 41244286 | 41244286 | AC | A | reviewed by expert panel | ClinGen:CA002110 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3268C>T (p.Gln1090Ter) | BRCA1 | Pathogenic | 17 | 41244280 | 41244280 | G | A | reviewed by expert panel | ClinGen:CA002112 |
| Deletion | NM_007294.4(BRCA1):c.3279del (p.Tyr1094fs) | BRCA1 | Pathogenic | 17 | 41244269 | 41244269 | AG | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3398&base_change=del C,ClinGen:CA002116 |
| Deletion | NM_007294.4(BRCA1):c.3285del (p.Lys1095fs) | BRCA1 | Pathogenic | 17 | 41244263 | 41244263 | GT | G | reviewed by expert panel | ClinGen:CA002117 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter) | BRCA1 | Pathogenic | 17 | 41244262 | 41244262 | G | A | reviewed by expert panel | ClinGen:CA002118 |
| Deletion | NM_007294.4(BRCA1):c.3286del (p.Gln1096fs) | BRCA1 | Pathogenic | 17 | 41244262 | 41244262 | TG | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3405&base_change=del C,ClinGen:CA002119 |
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