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_000059.4(BRCA2):c.1992del (p.Thr665fs) | BRCA2 | Pathogenic | 13 | 32910482 | 32910482 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656350 |
| Deletion | NM_000059.4(BRCA2):c.2272del (p.Ser758fs) | BRCA2 | Pathogenic | 13 | 32910761 | 32910761 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656370 |
| Indel | NM_000059.4(BRCA2):c.7833_7843delinsG (p.Asp2611fs) | BRCA2 | Pathogenic | 13 | 32936687 | 32936697 | TCCAAAGCTTA | G | criteria provided, single submitter | ClinGen:CA658656477 |
| Duplication | NM_000059.4(BRCA2):c.9330dup (p.Glu3111Ter) | BRCA2 | Pathogenic | 13 | 32968898 | 32968899 | A | AT | criteria provided, single submitter | ClinGen:CA658656359 |
| single nucleotide variant | NM_000059.4(BRCA2):c.9919A>T (p.Lys3307Ter) | BRCA2 | Pathogenic | 13 | 32972569 | 32972569 | A | T | criteria provided, single submitter | ClinGen:CA387767049 |
| Duplication | NM_000059.4(BRCA2):c.3620_3621dup (p.Leu1208fs) | BRCA2 | Pathogenic | 13 | 32912110 | 32912111 | T | TTA | criteria provided, single submitter | ClinGen:CA658656419 |
| Deletion | NM_000059.4(BRCA2):c.4013_4014del (p.Gly1338fs) | BRCA2 | Pathogenic | 13 | 32912505 | 32912506 | GGC | G | criteria provided, single submitter | ClinGen:CA658656332 |
| single nucleotide variant | NM_000059.4(BRCA2):c.4411A>T (p.Arg1471Ter) | BRCA2 | Pathogenic | 13 | 32912903 | 32912903 | A | T | criteria provided, single submitter | ClinGen:CA387781188 |
| Deletion | NM_000059.4(BRCA2):c.4884_4885del (p.Lys1628fs) | BRCA2 | Pathogenic | 13 | 32913374 | 32913375 | CAA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656364 |
| Duplication | NM_000059.4(BRCA2):c.5205dup (p.Gln1736fs) | BRCA2 | Pathogenic | 13 | 32913692 | 32913693 | G | GA | criteria provided, single submitter | ClinGen:CA658656382 |
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