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 | NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs) | BRCA1 | Pathogenic | 17 | 41244109 | 41244112 | GAACA | G | reviewed by expert panel | ClinGen:CA002224 |
| Deletion | NM_007294.4(BRCA1):c.3450del (p.Asp1151fs) | BRCA1 | Pathogenic | 17 | 41244098 | 41244098 | CA | C | reviewed by expert panel | ClinGen:CA002230 |
| Duplication | NM_007294.4(BRCA1):c.3450dup (p.Asp1151Ter) | BRCA1 | Pathogenic | 17 | 41244097 | 41244098 | C | CA | reviewed by expert panel | ClinGen:CA327868 |
| Deletion | NM_007294.4(BRCA1):c.3468del (p.Asp1156fs) | BRCA1 | Pathogenic | 17 | 41244080 | 41244080 | CA | C | reviewed by expert panel | ClinGen:CA002235 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3472G>T (p.Glu1158Ter) | BRCA1 | Pathogenic | 17 | 41244076 | 41244076 | C | A | reviewed by expert panel | ClinGen:CA002237 |
| Indel | NM_007294.4(BRCA1):c.3477_3479delinsC (p.Lys1160fs) | BRCA1 | Pathogenic | 17 | 41244069 | 41244071 | TTT | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3596&base_change=del AAA ins C,ClinGen:CA002238 |
| Deletion | NM_007294.4(BRCA1):c.3477_3480del (p.Ile1159fs) | BRCA1 | Pathogenic | 17 | 41244068 | 41244071 | CCTTT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3596&base_change=del AAAG,ClinGen:CA002239 |
| Deletion | NM_007294.4(BRCA1):c.3479_3488del (p.Lys1160fs) | BRCA1 | Pathogenic | 17 | 41244060 | 41244069 | AGTATCTTCCT | A | reviewed by expert panel | ClinGen:CA002242 |
| Deletion | NM_007294.4(BRCA1):c.3481del (p.Glu1161fs) | BRCA1 | Pathogenic | 17 | 41244067 | 41244067 | TC | T | reviewed by expert panel | ClinGen:CA002245 |
| Deletion | NM_007294.4(BRCA1):c.3494_3495del (p.Phe1165fs) | BRCA1 | Pathogenic | 17 | 41244053 | 41244054 | CAA | C | reviewed by expert panel | ClinGen:CA002250 |
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