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.9041C>G (p.Ser3014Ter) | BRCA2 | Pathogenic | 13 | 32953974 | 32953974 | C | G | reviewed by expert panel | ClinGen:CA025940 |
| Duplication | NM_000059.4(BRCA2):c.6349dup (p.Cys2117fs) | BRCA2 | Pathogenic | 13 | 32914840 | 32914841 | C | CT | reviewed by expert panel | ClinGen:CA023940 |
| single nucleotide variant | NM_000059.4(BRCA2):c.2918C>A (p.Ser973Ter) | BRCA2 | Pathogenic | 13 | 32911410 | 32911410 | C | A | reviewed by expert panel | ClinGen:CA016767 |
| single nucleotide variant | NM_000059.4(BRCA2):c.6308C>G (p.Ser2103Ter) | BRCA2 | Pathogenic | 13 | 32914800 | 32914800 | C | G | reviewed by expert panel | ClinGen:CA023846 |
| Deletion | NM_007294.4(BRCA1):c.4401del (p.Asn1468fs) | BRCA1 | Pathogenic | 17 | 41228588 | 41228588 | TC | T | reviewed by expert panel | ClinGen:CA002824 |
| single nucleotide variant | NM_000059.4(BRCA2):c.1909+1G>A | BRCA2 | Pathogenic/Likely pathogenic | 13 | 32907525 | 32907525 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA013828 |
| single nucleotide variant | NM_007294.4(BRCA1):c.192T>A (p.Cys64Ter) | BRCA1 | Pathogenic | 17 | 41258493 | 41258493 | A | T | reviewed by expert panel | ClinGen:CA001275 |
| Deletion | NM_000059.4(BRCA2):c.9257-5_9278del | BRCA2 | Pathogenic | 13 | 32968820 | 32968846 | ATTCTAGGACTTGCCCCTTTCGTCTATT | A | criteria provided, single submitter | ClinGen:CA165073 |
| Duplication | NM_000059.4(BRCA2):c.7855dup (p.Trp2619fs) | BRCA2 | Pathogenic | 13 | 32936706 | 32936707 | A | AT | reviewed by expert panel | ClinGen:CA165137 |
| Deletion | NM_000059.4(BRCA2):c.8384_8395del (p.Phe2795_Arg2799delinsTer) | BRCA2 | Pathogenic | 13 | 32944591 | 32944602 | TTTCCTGACCCTA | T | reviewed by expert panel | ClinGen:CA025618 |
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