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.4185_4185+3del | BRCA1 | Pathogenic | 17 | 41242958 | 41242961 | TTACC | T | criteria provided, single submitter | ClinGen:CA327916 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4186C>T (p.Gln1396Ter) | BRCA1 | Pathogenic | 17 | 41234592 | 41234592 | G | A | reviewed by expert panel | ClinGen:CA002700 |
| Deletion | NM_007294.4(BRCA1):c.4195_4196del (p.Thr1399fs) | BRCA1 | Pathogenic | 17 | 41234582 | 41234583 | GGT | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):4314&base_change=del AC,ClinGen:CA002702 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4201C>T (p.Gln1401Ter) | BRCA1 | Pathogenic | 17 | 41234577 | 41234577 | G | A | reviewed by expert panel | ClinGen:CA002705 |
| Deletion | NM_007294.4(BRCA1):c.4210del (p.Asn1403_Leu1404insTer) | BRCA1 | Pathogenic | 17 | 41234568 | 41234568 | AG | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):4329&base_change=del C,ClinGen:CA002712 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter) | BRCA1 | Pathogenic | 17 | 41234556 | 41234556 | G | A | reviewed by expert panel | ClinGen:CA002719 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4228G>T (p.Glu1410Ter) | BRCA1 | Pathogenic | 17 | 41234550 | 41234550 | C | A | reviewed by expert panel | ClinGen:CA002721 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4232T>C (p.Met1411Thr) | BRCA1 | Likely pathogenic | 17 | 41234546 | 41234546 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA002723,UniProtKB:P38398#VAR_020699 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4237G>T (p.Glu1413Ter) | BRCA1 | Pathogenic | 17 | 41234541 | 41234541 | C | A | reviewed by expert panel | ClinGen:CA002724 |
| Duplication | NM_007294.4(BRCA1):c.4240dup (p.Leu1414fs) | BRCA1 | Pathogenic | 17 | 41234537 | 41234538 | A | AG | reviewed by expert panel | ClinGen:CA327921 |
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