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) | ||||||||||
| Deletion | NM_007294.4(BRCA1):c.5243del (p.Gly1748fs) | BRCA1 | Pathogenic | 17 | 41209103 | 41209103 | AC | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):5362&base_change=del G,ClinGen:CA003384 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5246C>G (p.Pro1749Arg) | BRCA1 | Pathogenic | 17 | 41209100 | 41209100 | G | C | criteria provided, single submitter | UniProtKB:P38398#VAR_007798,ClinGen:CA003387 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) | BRCA1 | Pathogenic | 17 | 41209095 | 41209095 | G | A | reviewed by expert panel | ClinGen:CA003389 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5254G>C (p.Ala1752Pro) | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41209092 | 41209092 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA003394 |
| Duplication | NM_007294.4(BRCA1):c.5257dup (p.Arg1753fs) | BRCA1 | Pathogenic | 17 | 41209088 | 41209089 | C | CT | reviewed by expert panel | ClinGen:CA327987 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5260G>T (p.Glu1754Ter) | BRCA1 | Pathogenic | 17 | 41209086 | 41209086 | C | A | reviewed by expert panel | ClinGen:CA003403 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5266C>T (p.Gln1756Ter) | BRCA1 | Pathogenic | 17 | 41209080 | 41209080 | G | A | reviewed by expert panel | ClinGen:CA003410 |
| Deletion | NM_007294.4(BRCA1):c.5270_5276del (p.Asp1757fs) | BRCA1 | Pathogenic | 17 | 41209070 | 41209076 | CTTTCTGT | C | reviewed by expert panel | ClinGen:CA003413 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5278-1G>A | BRCA1 | Pathogenic | 17 | 41203135 | 41203135 | C | T | criteria provided, multiple submitters, no conflicts | Breast Cancer Information Core (BIC) (BRCA1):5397-1&base_change=G to A,ClinGen:CA003432 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5278-1G>C | BRCA1 | Pathogenic | 17 | 41203135 | 41203135 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA003434 |
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