Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
家族性膵がん
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.4573C>T (p.Gln1525Ter) | BRCA1 | Pathogenic | 17 | 41226450 | 41226450 | G | A | reviewed by expert panel | ClinGen:CA10589655 |
| Deletion | NM_007294.4(BRCA1):c.4569_4572del (p.Ser1524fs) | BRCA1 | Pathogenic | 17 | 41226451 | 41226454 | GAGAT | G | reviewed by expert panel | ClinGen:CA10589656 |
| Insertion | NM_007294.4(BRCA1):c.4569_4570insCC (p.Ser1524fs) | BRCA1 | Pathogenic | 17 | 41226453 | 41226454 | A | AGG | reviewed by expert panel | ClinGen:CA10589657 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4566C>G (p.Tyr1522Ter) | BRCA1 | Pathogenic | 17 | 41226457 | 41226457 | G | C | reviewed by expert panel | ClinGen:CA10589658 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4566C>A (p.Tyr1522Ter) | BRCA1 | Pathogenic | 17 | 41226457 | 41226457 | G | T | reviewed by expert panel | ClinGen:CA10589659 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4527C>A (p.Tyr1509Ter) | BRCA1 | Pathogenic | 17 | 41226496 | 41226496 | G | T | reviewed by expert panel | ClinGen:CA10589660 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4503C>A (p.Cys1501Ter) | BRCA1 | Pathogenic | 17 | 41226520 | 41226520 | G | T | reviewed by expert panel | ClinGen:CA10589661 |
| Deletion | NM_007294.4(BRCA1):c.4453_4474del (p.Thr1485fs) | BRCA1 | Pathogenic | 17 | 41228515 | 41228536 | CCTGGTTCTTTATTTTTACTGGT | C | reviewed by expert panel | ClinGen:CA10589662 |
| Deletion | NM_007294.4(BRCA1):c.4417del (p.Ser1473fs) | BRCA1 | Pathogenic | 17 | 41228572 | 41228572 | GA | G | reviewed by expert panel | ClinGen:CA10589663 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4408G>T (p.Glu1470Ter) | BRCA1 | Pathogenic | 17 | 41228581 | 41228581 | C | A | reviewed by expert panel | ClinGen:CA10589664 |
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