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_000059.4(BRCA2):c.8875G>T (p.Glu2959Ter) | BRCA2 | Pathogenic | 13 | 32953574 | 32953574 | G | T | reviewed by expert panel | ClinGen:CA025858 |
| Duplication | NM_000059.4(BRCA2):c.8996dup (p.Leu3000fs) | BRCA2 | Pathogenic | 13 | 32953928 | 32953929 | C | CT | reviewed by expert panel | ClinGen:CA192553 |
| Deletion | NM_000059.4(BRCA2):c.9025del (p.Tyr3009fs) | BRCA2 | Pathogenic | 13 | 32953956 | 32953956 | AT | A | reviewed by expert panel | ClinGen:CA025932 |
| Deletion | NM_000059.4(BRCA2):c.9262del (p.Ala3088fs) | BRCA2 | Pathogenic | 13 | 32968831 | 32968831 | TG | T | reviewed by expert panel | ClinGen:CA026071 |
| Indel | NM_000059.4(BRCA2):c.9522_9523delinsAT (p.Asn3174_Glu3175delinsLysTer) | BRCA2 | Pathogenic | 13 | 32971055 | 32971056 | TG | AT | criteria provided, multiple submitters, no conflicts | ClinGen:CA026197 |
| single nucleotide variant | NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter) | RAD51D | Likely pathogenic | 17 | 33428225 | 33428225 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA190870 |
| Deletion | NM_002878.4(RAD51D):c.898del (p.Arg300fs) | RAD51D | Likely pathogenic | 17 | 33428225 | 33428225 | CG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA192195 |
| Deletion | NM_002878.4(RAD51D):c.564del (p.Val189fs) | RAD51D | Pathogenic | 17 | 33433417 | 33433417 | CA | C | criteria provided, single submitter | ClinGen:CA194073 |
| Duplication | NM_002878.4(RAD51D):c.330dup (p.Ser111Ter) | RAD51D | Pathogenic/Likely pathogenic | 17 | 33434399 | 33434400 | T | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA192851 |
| Deletion | NM_002878.4(RAD51D):c.185_200del (p.Ser62fs) | RAD51D | Pathogenic | 17 | 33445583 | 33445598 | ATTCACGGGGAAAGCCG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA191987 |
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