Knowledge base for genomic medicine in Japanese
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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_007294.4(BRCA1):c.4505del (p.Pro1502fs) | BRCA1 | Pathogenic | 17 | 41226518 | 41226518 | TG | T | criteria provided, single submitter | ClinGen:CA658656637 |
| Deletion | NM_007294.4(BRCA1):c.4282del (p.Ser1428fs) | BRCA1 | Pathogenic | 17 | 41234496 | 41234496 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656655 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5156T>G (p.Val1719Gly) | BRCA1 | Likely pathogenic | 17 | 41215387 | 41215387 | A | C | criteria provided, single submitter | ClinGen:CA10591229 |
| Deletion | NM_007294.4(BRCA1):c.5080del (p.Glu1694fs) | BRCA1 | Pathogenic | 17 | 41215963 | 41215963 | TC | T | criteria provided, single submitter | ClinGen:CA658656679 |
| Deletion | NM_007294.4(BRCA1):c.4862_4871del (p.Asp1621fs) | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41223060 | 41223069 | CCCAGCAGTAT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656618 |
| Duplication | NM_007294.4(BRCA1):c.4828dup (p.Ser1610fs) | BRCA1 | Pathogenic | 17 | 41223102 | 41223103 | G | GA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656620 |
| Deletion | NM_007294.4(BRCA1):c.4803del (p.Val1602fs) | BRCA1 | Pathogenic | 17 | 41223128 | 41223128 | CT | C | criteria provided, single submitter | ClinGen:CA658656622 |
| Deletion | NM_007294.4(BRCA1):c.3640_3644del (p.Glu1214fs) | BRCA1 | Pathogenic | 17 | 41243904 | 41243908 | GTTCTC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656686 |
| Indel | NM_007294.4(BRCA1):c.2820_2830delinsAAGATAAGCCAGTTTGATAA (p.Asp940_Cys944delinsGluArgTer) | BRCA1 | Pathogenic | 17 | 41244718 | 41244728 | ATTTGGCATTA | TTATCAAACTGGCTTATCTT | criteria provided, single submitter | ClinGen:CA658656660 |
| Deletion | NM_007294.4(BRCA1):c.4486del (p.Ser1496fs) | BRCA1 | Pathogenic | 17 | 41226537 | 41226537 | GA | G | criteria provided, single submitter | ClinGen:CA658656638 |
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