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.1162A>T (p.Arg388Ter) | BRCA1 | Pathogenic | 17 | 41246386 | 41246386 | T | A | criteria provided, single submitter | ClinGen:CA10599729 |
| single nucleotide variant | NM_007294.4(BRCA1):c.80G>T (p.Cys27Phe) | BRCA1 | Likely pathogenic | 17 | 41276034 | 41276034 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10601996 |
| Duplication | NM_007294.4(BRCA1):c.706dup (p.Thr236fs) | BRCA1 | Pathogenic | 17 | 41246841 | 41246842 | G | GT | criteria provided, single submitter | ClinGen:CA658656636 |
| single nucleotide variant | NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter) | BRCA1 | Pathogenic | 17 | 41267760 | 41267760 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10601926 |
| Duplication | NM_007294.4(BRCA1):c.5296dup (p.Ile1766fs) | BRCA1 | Pathogenic | 17 | 41203115 | 41203116 | A | AT | criteria provided, single submitter | ClinGen:CA658656653 |
| Deletion | NM_007294.4(BRCA1):c.5059del (p.Val1687fs) | BRCA1 | Pathogenic | 17 | 41219640 | 41219640 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656683 |
| Deletion | NM_007294.4(BRCA1):c.3569del (p.Pro1190fs) | BRCA1 | Pathogenic | 17 | 41243979 | 41243979 | AG | A | criteria provided, single submitter | ClinGen:CA658656688 |
| Deletion | NM_007294.4(BRCA1):c.3302_3305del (p.Ser1101fs) | BRCA1 | Pathogenic | 17 | 41244243 | 41244246 | ATTAC | A | criteria provided, single submitter | ClinGen:CA658656615 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2488A>T (p.Lys830Ter) | BRCA1 | Pathogenic | 17 | 41245060 | 41245060 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10597024 |
| Deletion | NM_007294.4(BRCA1):c.2164del (p.Val722fs) | BRCA1 | Pathogenic | 17 | 41245384 | 41245384 | AC | A | criteria provided, single submitter | ClinGen:CA658656731 |
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