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.4699_4708del (p.Gly1567fs) | BRCA1 | Pathogenic | 17 | 41223223 | 41223232 | AGGCTGATTCC | A | reviewed by expert panel | ClinGen:CA10589648 |
| Duplication | NM_007294.4(BRCA1):c.4688dup (p.Tyr1563Ter) | BRCA1 | Pathogenic | 17 | 41223242 | 41223243 | G | GT | reviewed by expert panel | ClinGen:CA10589649 |
| Duplication | NM_007294.4(BRCA1):c.4668dup (p.Asp1557fs) | BRCA1 | Pathogenic | 17 | 41226354 | 41226355 | C | CT | reviewed by expert panel | ClinGen:CA10589650 |
| Indel | NM_007294.4(BRCA1):c.4618_4621delinsAAA (p.Glu1540fs) | BRCA1 | Pathogenic | 17 | 41226402 | 41226405 | CTTC | TTT | reviewed by expert panel | ClinGen:CA10589652 |
| Duplication | NM_007294.4(BRCA1):c.4593dup (p.Val1532fs) | BRCA1 | Pathogenic | 17 | 41226429 | 41226430 | C | CA | reviewed by expert panel | ClinGen:CA10589653 |
| Deletion | NM_007294.4(BRCA1):c.4591del (p.Val1531fs) | BRCA1 | Pathogenic | 17 | 41226432 | 41226432 | AC | A | reviewed by expert panel | ClinGen:CA10589654 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4573C>T (p.Gln1525Ter) | BRCA1 | Pathogenic | 17 | 41226450 | 41226450 | G | A | reviewed by expert panel | ClinGen:CA10589655 |
| Deletion | NM_007294.4(BRCA1):c.4569_4572del (p.Ser1524fs) | BRCA1 | Pathogenic | 17 | 41226451 | 41226454 | GAGAT | G | reviewed by expert panel | ClinGen:CA10589656 |
| Insertion | NM_007294.4(BRCA1):c.4569_4570insCC (p.Ser1524fs) | BRCA1 | Pathogenic | 17 | 41226453 | 41226454 | A | AGG | reviewed by expert panel | ClinGen:CA10589657 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4566C>G (p.Tyr1522Ter) | BRCA1 | Pathogenic | 17 | 41226457 | 41226457 | G | C | reviewed by expert panel | ClinGen:CA10589658 |
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