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) | ||||||||||
| single nucleotide variant | NM_007294.4(BRCA1):c.898G>T (p.Glu300Ter) | BRCA1 | Pathogenic | 17 | 41246650 | 41246650 | C | A | reviewed by expert panel | ClinGen:CA10589982 |
| Deletion | NM_007294.4(BRCA1):c.874del (p.Leu292fs) | BRCA1 | Pathogenic | 17 | 41246674 | 41246674 | AG | A | reviewed by expert panel | ClinGen:CA10589983 |
| Duplication | NM_007294.4(BRCA1):c.873dup (p.Leu292fs) | BRCA1 | Pathogenic | 17 | 41246674 | 41246675 | G | GT | reviewed by expert panel | ClinGen:CA10589984 |
| Duplication | NM_007294.4(BRCA1):c.861_862dup (p.Ser288fs) | BRCA1 | Pathogenic | 17 | 41246685 | 41246686 | C | CTG | reviewed by expert panel | ClinGen:CA10589985 |
| Deletion | NM_007294.4(BRCA1):c.862del (p.Ser288fs) | BRCA1 | Pathogenic | 17 | 41246686 | 41246686 | CT | C | reviewed by expert panel | ClinGen:CA10589986 |
| Deletion | NM_007294.4(BRCA1):c.829_836del (p.Asn277fs) | BRCA1 | Pathogenic | 17 | 41246712 | 41246719 | ATGAGTATT | A | reviewed by expert panel | ClinGen:CA10589987 |
| Duplication | NM_007294.4(BRCA1):c.832dup (p.Thr278fs) | BRCA1 | Pathogenic | 17 | 41246715 | 41246716 | G | GT | reviewed by expert panel | ClinGen:CA10589988 |
| Deletion | NM_007294.4(BRCA1):c.829_830del (p.Asn277fs) | BRCA1 | Pathogenic | 17 | 41246718 | 41246719 | ATT | A | reviewed by expert panel | ClinGen:CA10589989 |
| Duplication | NM_007294.4(BRCA1):c.807_817dup (p.Pro273fs) | BRCA1 | Pathogenic | 17 | 41246730 | 41246731 | G | GGCTCCACATGC | reviewed by expert panel | ClinGen:CA10589990 |
| Insertion | NM_007294.4(BRCA1):c.815_816insTCCATGTGGA (p.Glu272fs) | BRCA1 | Pathogenic | 17 | 41246732 | 41246733 | C | CTCCACATGGA | reviewed by expert panel | ClinGen:CA10589991 |
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