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_002878.4(RAD51D):c.210_229dup (p.Thr77delinsIleSerThrArgAsnTer) | RAD51D | Pathogenic | 17 | 33445553 | 33445554 | G | GTCTTCAGTTCCTCGTAGAGA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656592 |
| single nucleotide variant | NM_002878.4(RAD51D):c.178C>T (p.Gln60Ter) | RAD51D | Pathogenic | 17 | 33445605 | 33445605 | G | A | criteria provided, single submitter | ClinGen:CA399091493 |
| Deletion | NM_007294.4(BRCA1):c.5250del (p.Lys1750fs) | BRCA1 | Pathogenic | 17 | 41209096 | 41209096 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656659 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5215G>C (p.Asp1739His) | BRCA1 | Likely pathogenic | 17 | 41209131 | 41209131 | C | G | criteria provided, single submitter | ClinGen:CA10591110 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4987-1G>C | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41219713 | 41219713 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10591546 |
| Deletion | NM_007294.4(BRCA1):c.4505del (p.Pro1502fs) | BRCA1 | Pathogenic | 17 | 41226518 | 41226518 | TG | T | criteria provided, single submitter | ClinGen:CA658656637 |
| Deletion | NM_007294.4(BRCA1):c.4282del (p.Ser1428fs) | BRCA1 | Pathogenic | 17 | 41234496 | 41234496 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656655 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5156T>G (p.Val1719Gly) | BRCA1 | Likely pathogenic | 17 | 41215387 | 41215387 | A | C | criteria provided, single submitter | ClinGen:CA10591229 |
| Deletion | NM_007294.4(BRCA1):c.5080del (p.Glu1694fs) | BRCA1 | Pathogenic | 17 | 41215963 | 41215963 | TC | T | criteria provided, single submitter | ClinGen:CA658656679 |
| Deletion | NM_007294.4(BRCA1):c.4862_4871del (p.Asp1621fs) | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41223060 | 41223069 | CCCAGCAGTAT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656618 |
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