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.3851_3852dup (p.Leu1285fs) | BRCA1 | Pathogenic | 17 | 41243695 | 41243696 | G | GGT | reviewed by expert panel | ClinGen:CA002481 |
| Deletion | NM_007294.4(BRCA1):c.3840_3850del (p.Gln1281fs) | BRCA1 | Pathogenic | 17 | 41243698 | 41243708 | TGATGTTCCTGA | T | reviewed by expert panel | ClinGen:CA10589719 |
| Deletion | NM_007294.4(BRCA1):c.3839_3843del (p.Ala1279_Ser1280insTer) | BRCA1 | Pathogenic | 17 | 41243705 | 41243709 | CCTGAG | C | reviewed by expert panel | ClinGen:CA10589720 |
| Deletion | NM_007294.4(BRCA1):c.3837_3840del (p.Ser1280fs) | BRCA1 | Pathogenic | 17 | 41243708 | 41243711 | GAGAT | G | reviewed by expert panel | ClinGen:CA10589721 |
| Duplication | NM_007294.4(BRCA1):c.3821dup (p.Ile1275fs) | BRCA1 | Pathogenic | 17 | 41243726 | 41243727 | T | TA | reviewed by expert panel | ClinGen:CA10589722 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3810C>A (p.Cys1270Ter) | BRCA1 | Pathogenic | 17 | 41243738 | 41243738 | G | T | reviewed by expert panel | ClinGen:CA10589723 |
| Deletion | NM_007294.4(BRCA1):c.3765del (p.Asn1255fs) | BRCA1 | Pathogenic | 17 | 41243783 | 41243783 | TG | T | reviewed by expert panel | ClinGen:CA10589724 |
| Deletion | NM_007294.4(BRCA1):c.3756_3760del (p.Ser1253fs) | BRCA1 | Pathogenic | 17 | 41243788 | 41243792 | TTAGAC | T | reviewed by expert panel | ClinGen:CA10589725 |
| Deletion | NM_007294.4(BRCA1):c.3750del (p.Glu1250fs) | BRCA1 | Pathogenic | 17 | 41243798 | 41243798 | AC | A | reviewed by expert panel | ClinGen:CA10589726 |
| Deletion | NM_007294.4(BRCA1):c.3731_3743del (p.His1244fs) | BRCA1 | Pathogenic | 17 | 41243805 | 41243817 | AGCAACGGTGCTAT | A | reviewed by expert panel | ClinGen:CA10589727 |
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