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。
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_002878.4(RAD51D):c.772_778del (p.Gly258fs) | RAD51D | Pathogenic/Likely pathogenic | 17 | 33428345 | 33428351 | AGCCTCCC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16620380 |
| Duplication | NM_002878.4(RAD51D):c.774dup (p.Arg259fs) | RAD51D | Likely pathogenic | 17 | 33428348 | 33428349 | T | TC | criteria provided, multiple submitters, no conflicts | ClinGen:CA16620381 |
| Deletion | NM_002878.4(RAD51D):c.587del (p.Ser196fs) | RAD51D | Likely pathogenic | 17 | 33430553 | 33430553 | AG | A | criteria provided, single submitter | ClinGen:CA16620385 |
| Deletion | NM_002878.4(RAD51D):c.131_144+24del | RAD51D | Pathogenic/Likely pathogenic | 17 | 33446106 | 33446143 | TGGAATGTGGAGATCAGGAGCTCACCTTGTAAGACAAGC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16620391 |
| Deletion | NM_002878.4(RAD51D):c.81del (p.Val28fs) | RAD51D | Pathogenic/Likely pathogenic | 17 | 33446552 | 33446552 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16620392 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5511G>C (p.Trp1837Cys) | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41197776 | 41197776 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10590294 |
| Deletion | NM_007294.4(BRCA1):c.5398del (p.Gly1801fs) | BRCA1 | Pathogenic | 17 | 41201146 | 41201146 | AG | A | reviewed by expert panel | ClinGen:CA16620419 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4787C>A (p.Ser1596Ter) | BRCA1 | Pathogenic | 17 | 41223144 | 41223144 | G | T | reviewed by expert panel | ClinGen:CA10591942 |
| Indel | NM_007294.4(BRCA1):c.4523_4526delinsTGCCCATCATTAGATGAG (p.Trp1508_Tyr1509delinsLeuProIleIleArgTer) | BRCA1 | Pathogenic | 17 | 41226497 | 41226500 | TACC | CTCATCTAATGATGGGCA | reviewed by expert panel | ClinGen:CA16620423 |
| Deletion | NM_007294.4(BRCA1):c.4412del (p.Gly1471fs) | BRCA1 | Pathogenic | 17 | 41228577 | 41228577 | GC | G | reviewed by expert panel | ClinGen:CA16620424 |
Copyright © Japan Institute for Health Security. All rights reserved.