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) | ||||||||||
| Deletion | NM_000059.4(BRCA2):c.3554_3555del (p.Thr1185fs) | BRCA2 | Pathogenic | 13 | 32912045 | 32912046 | TAC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):3782&base_change=del CA,ClinGen:CA018315 |
| Deletion | NM_000059.4(BRCA2):c.3554_3563del (p.Thr1185fs) | BRCA2 | Pathogenic | 13 | 32912046 | 32912055 | ACAGTTGAAAT | A | reviewed by expert panel | ClinGen:CA018321 |
| Deletion | NM_000059.4(BRCA2):c.3556_3565del (p.Val1186fs) | BRCA2 | Pathogenic | 13 | 32912047 | 32912056 | CAGTTGAAATT | C | reviewed by expert panel | ClinGen:CA018331 |
| Deletion | NM_000059.4(BRCA2):c.3570del (p.Lys1191fs) | BRCA2 | Pathogenic | 13 | 32912061 | 32912061 | CG | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):3798&base_change=del G,ClinGen:CA018365 |
| Deletion | NM_000059.4(BRCA2):c.3593del (p.Asn1198fs) | BRCA2 | Pathogenic | 13 | 32912081 | 32912081 | GA | G | reviewed by expert panel | ClinGen:CA018383 |
| Deletion | NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) | BRCA2 | Pathogenic | 13 | 32912090 | 32912091 | CTG | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):3826&base_change=del TG,Breast Cancer Information Core (BIC) (BRCA2):3827&base_change=del GT,ClinGen:CA018389 |
| Duplication | NM_000059.4(BRCA2):c.3641dup (p.Phe1216fs) | BRCA2 | Pathogenic | 13 | 32912132 | 32912133 | G | GT | reviewed by expert panel | ClinGen:CA018449 |
| Indel | NM_000059.4(BRCA2):c.3645_3646delinsTAAAAAG (p.Phe1216fs) | BRCA2 | Pathogenic | 13 | 32912137 | 32912138 | GT | TAAAAAG | reviewed by expert panel | ClinGen:CA018463 |
| Deletion | NM_000059.4(BRCA2):c.364del (p.Thr122fs) | BRCA2 | Pathogenic | 13 | 32899257 | 32899257 | GA | G | reviewed by expert panel | ClinGen:CA018470 |
| Deletion | NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs) | BRCA2 | Pathogenic | 13 | 32912172 | 32912173 | CTG | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):3908&base_change=del TG,ClinGen:CA018546 |
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