Knowledge base for genomic medicine in Japanese
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DICER1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) | ||||||||||
| Duplication | NM_177438.3(DICER1):c.2370_2373dup (p.Leu792fs) | DICER1 | Pathogenic | 14 | 95574723 | 95574724 | G | GCTTC | criteria provided, single submitter | ClinGen:CA658798255 |
| single nucleotide variant | NM_177438.3(DICER1):c.947G>A (p.Trp316Ter) | DICER1 | Pathogenic | 14 | 95590962 | 95590962 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA390887315 |
| single nucleotide variant | NM_177438.3(DICER1):c.2987+1G>A | DICER1 | Pathogenic/Likely pathogenic | 14 | 95572377 | 95572377 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA390878746 |
| Deletion | NM_177438.3(DICER1):c.4762del (p.Gly1587_Leu1588insTer) | DICER1 | Pathogenic | 14 | 95562495 | 95562495 | AG | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_177438.3(DICER1):c.3688C>T (p.Gln1230Ter) | DICER1 | Pathogenic | 14 | 95570045 | 95570045 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_177438.3(DICER1):c.1847T>A (p.Leu616Ter) | DICER1 | Pathogenic | 14 | 95582064 | 95582064 | A | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_177438.3(DICER1):c.5096-12G>A | DICER1 | Likely pathogenic | 14 | 95560505 | 95560505 | C | T | reviewed by expert panel | - |
| single nucleotide variant | NM_177438.3(DICER1):c.1376+1G>A | DICER1 | Pathogenic/Likely pathogenic | 14 | 95590532 | 95590532 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_177438.3(DICER1):c.904-1G>C | DICER1 | Pathogenic/Likely pathogenic | 14 | 95591006 | 95591006 | C | G | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_177438.3(DICER1):c.5504_5507del (p.Tyr1835fs) | DICER1 | Pathogenic | 14 | 95557560 | 95557563 | GGGAT | G | criteria provided, multiple submitters, no conflicts | - |
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