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) | ||||||||||
| Duplication | NM_000059.4(BRCA2):c.1447dup (p.Ala483fs) | BRCA2 | Pathogenic | 13 | 32907061 | 32907062 | T | TG | reviewed by expert panel | ClinGen:CA169014 |
| single nucleotide variant | NM_000059.4(BRCA2):c.3412C>T (p.Gln1138Ter) | BRCA2 | Pathogenic | 13 | 32911904 | 32911904 | C | T | reviewed by expert panel | ClinGen:CA017964 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2593A>T (p.Lys865Ter) | BRCA1 | Pathogenic | 17 | 41244955 | 41244955 | T | A | reviewed by expert panel | ClinGen:CA001706 |
| Deletion | NM_007294.4(BRCA1):c.335_338del (p.Asn112fs) | BRCA1 | Pathogenic | 17 | 41256242 | 41256245 | GTTAT | G | reviewed by expert panel | ClinGen:CA002173 |
| Deletion | NM_000059.4(BRCA2):c.6703_6704del (p.Met2235fs) | BRCA2 | Pathogenic | 13 | 32915194 | 32915195 | TTA | T | reviewed by expert panel | ClinGen:CA024310 |
| Deletion | NM_000059.4(BRCA2):c.3358del (p.Glu1120fs) | BRCA2 | Pathogenic | 13 | 32911850 | 32911850 | AG | A | reviewed by expert panel | ClinGen:CA017851 |
| single nucleotide variant | NM_002878.4(RAD51D):c.547C>T (p.Gln183Ter) | RAD51D | Pathogenic/Likely pathogenic | 17 | 33433434 | 33433434 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA169325 |
| Duplication | NM_058216.3(RAD51C):c.501_502dup (p.Arg168fs) | RAD51C | Pathogenic | 17 | 56774148 | 56774149 | G | GAT | criteria provided, multiple submitters, no conflicts | ClinGen:CA169339 |
| single nucleotide variant | NM_058216.3(RAD51C):c.904+5G>T | RAD51C | Pathogenic/Likely pathogenic | 17 | 56798178 | 56798178 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA169350,OMIM:602774.0002 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2056G>T (p.Glu686Ter) | BRCA1 | Pathogenic | 17 | 41245492 | 41245492 | C | A | reviewed by expert panel | ClinGen:CA001362 |
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