Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
家族性膵がん
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 | NC_000013.10:g.(?_32899736)_(32913272_?)dup | BRCA2 | Pathogenic | 13 | 32899736 | 32913272 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000013.11:g.(?_32339892)_(32342875_?)del | BRCA2 | Pathogenic | 13 | 32914029 | 32917012 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000013.11:g.(?_32379311)_(32380151_?)del | BRCA2 | Pathogenic | 13 | 32953448 | 32954288 | na | na | criteria provided, single submitter | - |
| single nucleotide variant | NM_000059.4(BRCA2):c.1219C>T (p.Gln407Ter) | BRCA2 | Pathogenic/Likely pathogenic | 13 | 32906834 | 32906834 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA387762117 |
| single nucleotide variant | NM_000059.4(BRCA2):c.2677C>T (p.Gln893Ter) | BRCA2 | Pathogenic | 13 | 32911169 | 32911169 | C | T | criteria provided, single submitter | ClinGen:CA387773409 |
| Insertion | NM_000059.4(BRCA2):c.3187_3188insG (p.Gln1063fs) | BRCA2 | Pathogenic | 13 | 32911679 | 32911680 | C | CG | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656405 |
| Deletion | NM_000059.4(BRCA2):c.3462del (p.Thr1155fs) | BRCA2 | Pathogenic | 13 | 32911953 | 32911953 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656411 |
| Deletion | NM_000059.4(BRCA2):c.5795_5799del (p.His1932fs) | BRCA2 | Pathogenic | 13 | 32914284 | 32914288 | CAACAT | C | criteria provided, single submitter | ClinGen:CA658656402 |
| Deletion | NC_000013.11:g.(?_32319286)_(32324350_?)del | BRCA2 | Pathogenic | 13 | 32893423 | 32898487 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000013.10:g.(?_32913706)_(32934992_?)dup | BRCA2 | Pathogenic | 13 | 32913706 | 32934992 | na | na | criteria provided, single submitter | - |
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