Knowledge base for genomic medicine in Japanese
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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.2760del (p.Gln921fs) | BRCA1 | Pathogenic | 17 | 41244788 | 41244788 | GT | G | reviewed by expert panel | ClinGen:CA16620434 |
| Insertion | NM_007294.4(BRCA1):c.2754_2755insGGGTG (p.Pro919fs) | BRCA1 | Pathogenic | 17 | 41244793 | 41244794 | G | GCACCC | criteria provided, single submitter | ClinGen:CA16620435 |
| Deletion | NM_007294.4(BRCA1):c.2707del (p.Cys903fs) | BRCA1 | Pathogenic | 17 | 41244841 | 41244841 | CA | C | reviewed by expert panel | ClinGen:CA16620436 |
| Deletion | NM_007294.4(BRCA1):c.2467del (p.Arg823fs) | BRCA1 | Pathogenic | 17 | 41245081 | 41245081 | CT | C | reviewed by expert panel | ClinGen:CA16620438 |
| Deletion | NM_007294.4(BRCA1):c.2185del (p.Glu729fs) | BRCA1 | Pathogenic | 17 | 41245363 | 41245363 | TC | T | reviewed by expert panel | ClinGen:CA16620439 |
| Deletion | NM_007294.4(BRCA1):c.1277del (p.Ser425_Ser426insTer) | BRCA1 | Pathogenic | 17 | 41246271 | 41246271 | TG | T | reviewed by expert panel | ClinGen:CA16620441 |
| Indel | NM_007294.4(BRCA1):c.891_896delinsTC (p.Met297fs) | BRCA1 | Pathogenic | 17 | 41246652 | 41246657 | ACATTC | GA | reviewed by expert panel | ClinGen:CA16620442 |
| Indel | NM_007294.4(BRCA1):c.389_391delinsTCT (p.Tyr130_Arg131delinsPheTer) | BRCA1 | Pathogenic | 17 | 41256189 | 41256191 | TGT | AGA | criteria provided, multiple submitters, no conflicts | ClinGen:CA16620446 |
| Duplication | NM_007294.4(BRCA1):c.310dup (p.Ser104fs) | BRCA1 | Pathogenic | 17 | 41256269 | 41256270 | C | CT | reviewed by expert panel | ClinGen:CA16620447 |
| Duplication | NM_024675.3(PALB2):c.1724dup (p.Ser576Glufs) | PALB2 | Pathogenic/Likely pathogenic | 16 | 23641749 | 23641750 | T | TC | criteria provided, multiple submitters, no conflicts | ClinGen:CA645509224 |
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