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) | ||||||||||
| single nucleotide variant | NM_007294.4(BRCA1):c.2963C>A (p.Ser988Ter) | BRCA1 | Pathogenic | 17 | 41244585 | 41244585 | G | T | reviewed by expert panel | ClinGen:CA001927 |
| Deletion | NM_007294.4(BRCA1):c.2967del (p.Phe989fs) | BRCA1 | Pathogenic | 17 | 41244581 | 41244581 | CA | C | reviewed by expert panel | ClinGen:CA001929 |
| Deletion | NM_007294.4(BRCA1):c.2973_2979del (p.Lys991fs) | BRCA1 | Pathogenic | 17 | 41244569 | 41244575 | ATTTAGTT | A | reviewed by expert panel | ClinGen:CA001931 |
| Deletion | NM_007294.4(BRCA1):c.2974_2990del (p.Thr992fs) | BRCA1 | Pathogenic | 17 | 41244558 | 41244574 | ATTTTTCTTACATTTAGT | A | reviewed by expert panel | ClinGen:CA001932 |
| Deletion | NM_007294.4(BRCA1):c.2980del (p.Cys994fs) | BRCA1 | Pathogenic | 17 | 41244568 | 41244568 | CA | C | reviewed by expert panel | ClinGen:CA001936,Breast Cancer Information Core (BIC) (BRCA1):3099&base_change=del T |
| Duplication | NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs) | BRCA1 | Pathogenic | 17 | 41244557 | 41244558 | A | ATT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3109&base_change=ins AA,ClinGen:CA001942 |
| Deletion | NM_007294.4(BRCA1):c.2990del (p.Asn997fs) | BRCA1 | Pathogenic | 17 | 41244558 | 41244558 | AT | A | reviewed by expert panel | ClinGen:CA001943 |
| Deletion | NM_007294.4(BRCA1):c.2999del (p.Glu1000fs) | BRCA1 | Pathogenic | 17 | 41244549 | 41244549 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3118&base_change=del A,ClinGen:CA001952 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2T>C (p.Met1Thr) | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41276112 | 41276112 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA001954 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2T>G (p.Met1Arg) | BRCA1 | Pathogenic | 17 | 41276112 | 41276112 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA001955 |
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