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.3815_3816insT (p.Gln1273fs) | BRCA1 | Pathogenic | 17 | 41243732 | 41243733 | G | GA | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.3780dup (p.Leu1261fs) | BRCA1 | Pathogenic | 17 | 41243767 | 41243768 | A | AT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.3762_3763insTT (p.Asn1255fs) | BRCA1 | Pathogenic | 17 | 41243785 | 41243786 | T | TAA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.3761_3762insT (p.Lys1254fs) | BRCA1 | Pathogenic | 17 | 41243786 | 41243787 | C | CA | reviewed by expert panel | - |
| Deletion | NM_007294.4(BRCA1):c.3758_3759del (p.Leu1252_Ser1253insTer) | BRCA1 | Pathogenic | 17 | 41243789 | 41243790 | TAG | T | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.3748_3749insC (p.Glu1250fs) | BRCA1 | Pathogenic | 17 | 41243799 | 41243800 | T | TG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.3730_3731insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG (p.His1244fs) | BRCA1 | Pathogenic | 17 | 41243817 | 41243818 | T | TCCTAGTAGACTGAGAAGGTATATTGTTTACTTTACCAAATAACAAGTGTC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.3650_3651insA (p.Ser1217_Ser1218insTer) | BRCA1 | Pathogenic | 17 | 41243897 | 41243898 | A | AT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.3580_3581insT (p.Thr1194fs) | BRCA1 | Pathogenic | 17 | 41243967 | 41243968 | G | GA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.3576_3577insAA (p.Phe1193fs) | BRCA1 | Pathogenic | 17 | 41243971 | 41243972 | A | ATT | reviewed by expert panel | - |
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