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.2812_2813del (p.Pro938fs) | BRCA1 | Pathogenic | 17 | 41244735 | 41244736 | TGG | T | reviewed by expert panel | ClinGen:CA001843 |
| Indel | NM_007294.4(BRCA1):c.2812_2813delinsG (p.Pro938fs) | BRCA1 | Pathogenic | 17 | 41244735 | 41244736 | GG | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2931&base_change=del CC ins G,ClinGen:CA001844 |
| Deletion | NM_007294.4(BRCA1):c.2830del (p.Cys944fs) | BRCA1 | Pathogenic | 17 | 41244718 | 41244718 | CA | C | reviewed by expert panel | ClinGen:CA001847 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2832T>A (p.Cys944Ter) | BRCA1 | Pathogenic | 17 | 41244716 | 41244716 | A | T | reviewed by expert panel | ClinGen:CA001848 |
| Deletion | NM_007294.4(BRCA1):c.2834_2835del (p.Ser945fs) | BRCA1 | Pathogenic | 17 | 41244713 | 41244714 | TAC | T | reviewed by expert panel | ClinGen:CA001850 |
| Indel | NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs) | BRCA1 | Pathogenic | 17 | 41244712 | 41244714 | TAC | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2953&base_change=del GTA ins C,ClinGen:CA001852 |
| Duplication | NM_007294.4(BRCA1):c.2835dup (p.Ile946fs) | BRCA1 | Pathogenic | 17 | 41244712 | 41244713 | T | TA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2954&base_change=ins T,ClinGen:CA001853 |
| Deletion | NM_007294.4(BRCA1):c.2836_2837del (p.Ile946fs) | BRCA1 | Pathogenic | 17 | 41244711 | 41244712 | GAT | G | reviewed by expert panel | ClinGen:CA001854 |
| Deletion | NM_007294.4(BRCA1):c.2840_2841del (p.Lys947fs) | BRCA1 | Pathogenic | 17 | 41244707 | 41244708 | CTT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2959&base_change=del AA,ClinGen:CA001856 |
| Deletion | NM_007294.4(BRCA1):c.2844_2853del (p.Gly949fs) | BRCA1 | Pathogenic | 17 | 41244695 | 41244704 | ACCTAGAGCCT | A | reviewed by expert panel | ClinGen:CA001857 |
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