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) | ||||||||||
| Insertion | NM_007294.4(BRCA1):c.3778_3779insA (p.Leu1260fs) | BRCA1 | Pathogenic | 17 | 41243769 | 41243770 | A | AT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3897&base_change=ins A,ClinGen:CA002433 |
| Duplication | NM_007294.4(BRCA1):c.3830dup (p.Ala1279fs) | BRCA1 | Pathogenic | 17 | 41243717 | 41243718 | T | TG | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3949&base_change=ins C,ClinGen:CA002467 |
| Deletion | NM_007294.4(BRCA1):c.3867_3871del (p.Lys1290fs) | BRCA1 | Pathogenic | 17 | 41243677 | 41243681 | CATTTT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3986&base_change=del AAAAT,ClinGen:CA002490 |
| Duplication | NM_007294.4(BRCA1):c.3908dup (p.Leu1303fs) | BRCA1 | Pathogenic | 17 | 41243639 | 41243640 | C | CA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):4027&base_change=ins T,ClinGen:CA002514 |
| Indel | NM_007294.3(BRCA1):c.288_292delCACAGins7 | BRCA1 | Pathogenic | 17 | 41256894 | 41256898 | na | na | criteria provided, single submitter | Breast Cancer Information Core (BIC) (BRCA1):407&base_change=del CACAG ins 7 |
| Insertion | NM_007294.4(BRCA1):c.4050_4051insG (p.Leu1351fs) | BRCA1 | Pathogenic | 17 | 41243497 | 41243498 | A | AC | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):4169&base_change=ins G,ClinGen:CA002585 |
| single nucleotide variant | NM_007294.4(BRCA1):c.302-1G>T | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41256279 | 41256279 | C | A | criteria provided, multiple submitters, no conflicts | Breast Cancer Information Core (BIC) (BRCA1):421-1&base_change=G to T,ClinGen:CA001976 |
| Deletion | NM_007294.4(BRCA1):c.4110_4111del (p.Gly1371fs) | BRCA1 | Pathogenic | 17 | 41243035 | 41243036 | CCA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):4229&base_change=del TG,ClinGen:CA002631 |
| Insertion | NM_007294.4(BRCA1):c.4111_4112insATCT (p.Gly1371fs) | BRCA1 | Pathogenic | 17 | 41243034 | 41243035 | C | CAGAT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):4230&base_change=ins ATCT,ClinGen:CA002632 |
| Deletion | NM_007294.4(BRCA1):c.4113del (p.Cys1372fs) | BRCA1 | Pathogenic | 17 | 41243033 | 41243033 | AC | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):4232&base_change=del G,ClinGen:CA002634 |
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