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 | NC_000017.11:g.(?_58720740)_(58720818_?)del | RAD51C | Pathogenic | 17 | 56798101 | 56798179 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000017.11:g.(?_43045672)_(43106539_?)del | BRCA1 | Pathogenic | 17 | 41197689 | 41258556 | na | na | criteria provided, single submitter | - |
| single nucleotide variant | NM_002878.4(RAD51D):c.685C>T (p.Gln229Ter) | RAD51D | Pathogenic | 17 | 33430326 | 33430326 | G | A | criteria provided, single submitter | ClinGen:CA399087718 |
| single nucleotide variant | NM_002878.4(RAD51D):c.351T>A (p.Cys117Ter) | RAD51D | Pathogenic | 17 | 33434136 | 33434136 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA399089400 |
| Deletion | NM_002878.4(RAD51D):c.210_229del (p.Tyr72fs) | RAD51D | Pathogenic | 17 | 33445554 | 33445573 | GTCTTCAGTTCCTCGTAGAGA | G | criteria provided, single submitter | ClinGen:CA658798816 |
| Deletion | NC_000017.11:g.(?_43051057)_(43051123_?)del | BRCA1 | Pathogenic | 17 | 41203074 | 41203140 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000017.11:g.(?_43063868)_(43124102_?)del | BRCA1 | Pathogenic | 17 | 41215885 | 41276119 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000017.11:g.(?_58709853)_(58709996_?)del | RAD51C | Likely pathogenic | 17 | 56787214 | 56787357 | na | na | criteria provided, single submitter | - |
| Duplication | NM_007294.4(BRCA1):c.5155_5158dup (p.Thr1720fs) | BRCA1 | Pathogenic | 17 | 41215384 | 41215385 | G | GTCAC | criteria provided, single submitter | ClinGen:CA658798068 |
| Duplication | NM_007294.4(BRCA1):c.5137dup (p.Val1713fs) | BRCA1 | Pathogenic | 17 | 41215905 | 41215906 | A | AC | criteria provided, multiple submitters, no conflicts | ClinGen:CA658798070 |
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