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_007294.4(BRCA1):c.5027dup (p.Leu1676fs) | BRCA1 | Pathogenic | 17 | 41219671 | 41219672 | T | TA | reviewed by expert panel | ClinGen:CA327956 |
| Deletion | NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer) | BRCA1 | Pathogenic | 17 | 41219664 | 41219664 | AG | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):5154&base_change=del C,ClinGen:CA003166 |
| Deletion | NM_007294.4(BRCA1):c.5040del (p.Thr1681fs) | BRCA1 | Pathogenic | 17 | 41219659 | 41219659 | TA | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):5159&base_change=del T,ClinGen:CA003168 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5047G>T (p.Glu1683Ter) | BRCA1 | Pathogenic | 17 | 41219652 | 41219652 | C | A | reviewed by expert panel | ClinGen:CA003173 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5053A>G (p.Thr1685Ala) | BRCA1 | Pathogenic | 17 | 41219646 | 41219646 | T | C | reviewed by expert panel | BRCA1-HCI:BRCA1_00042,ClinGen:CA003174,UniProtKB:P38398#VAR_063902 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5054C>T (p.Thr1685Ile) | BRCA1 | Pathogenic | 17 | 41219645 | 41219645 | G | A | reviewed by expert panel | BRCA1-HCI:BRCA1_00050,ClinGen:CA003175,UniProtKB:P38398#VAR_063903 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5058T>A (p.His1686Gln) | BRCA1 | Pathogenic | 17 | 41219641 | 41219641 | A | T | criteria provided, single submitter | ClinGen:CA003178,UniProtKB:P38398#VAR_070497 |
| single nucleotide variant | NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter) | BRCA1 | Pathogenic | 17 | 41251834 | 41251834 | G | A | reviewed by expert panel | ClinGen:CA003179 |
| Duplication | NM_007294.4(BRCA1):c.5071dup (p.Thr1691fs) | BRCA1 | Pathogenic | 17 | 41219627 | 41219628 | G | GT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):5190&base_change=ins A,ClinGen:CA003186 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5072C>G (p.Thr1691Arg) | BRCA1 | Likely pathogenic | 17 | 41219627 | 41219627 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA003189 |
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