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) | ||||||||||
| Deletion | NM_007294.4(BRCA1):c.1505_1509del (p.Leu502fs) | BRCA1 | Pathogenic | 17 | 41246039 | 41246043 | GCTTTA | G | reviewed by expert panel | ClinGen:CA10580662 |
| single nucleotide variant | NM_007294.4(BRCA1):c.1319T>G (p.Leu440Ter) | BRCA1 | Pathogenic | 17 | 41246229 | 41246229 | A | C | reviewed by expert panel | ClinGen:CA10580671 |
| Deletion | NM_007294.4(BRCA1):c.1252del (p.Glu418fs) | BRCA1 | Pathogenic | 17 | 41246296 | 41246296 | TC | T | reviewed by expert panel | ClinGen:CA10580673 |
| Indel | NM_007294.4(BRCA1):c.1232_1235delinsCA (p.Asp411fs) | BRCA1 | Pathogenic | 17 | 41246313 | 41246316 | ACAT | TG | reviewed by expert panel | ClinGen:CA10580674 |
| single nucleotide variant | NM_007294.4(BRCA1):c.1155G>A (p.Trp385Ter) | BRCA1 | Pathogenic | 17 | 41246393 | 41246393 | C | T | reviewed by expert panel | ClinGen:CA10580676 |
| Duplication | NM_007294.4(BRCA1):c.1140dup (p.Lys381fs) | BRCA1 | Pathogenic | 17 | 41246407 | 41246408 | T | TC | reviewed by expert panel | ClinGen:CA10580677 |
| Insertion | NM_007294.4(BRCA1):c.1105_1106insTC (p.Asp369fs) | BRCA1 | Pathogenic | 17 | 41246442 | 41246443 | T | TGA | criteria provided, single submitter | ClinGen:CA10580680 |
| Deletion | NM_007294.4(BRCA1):c.1002del (p.Ser335fs) | BRCA1 | Pathogenic | 17 | 41246546 | 41246546 | TG | T | reviewed by expert panel | ClinGen:CA10580686 |
| Deletion | NM_007294.4(BRCA1):c.456del (p.Ser153fs) | BRCA1 | Pathogenic | 17 | 41251883 | 41251883 | TG | T | reviewed by expert panel | ClinGen:CA10580697 |
| Deletion | NM_000059.4(BRCA2):c.160_161del (p.Asn54fs) | BRCA2 | Pathogenic | 13 | 32893303 | 32893304 | TAA | T | reviewed by expert panel | ClinGen:CA10581584 |
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