Knowledge base for genomic medicine in Japanese
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マルファン症候群
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) | ||||||||||
| single nucleotide variant | NM_000138.5(FBN1):c.6496G>T (p.Asp2166Tyr) | FBN1 | Likely pathogenic | 15 | 48729158 | 48729158 | C | A | criteria provided, single submitter | ClinGen:CA016518 |
| single nucleotide variant | NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) | FBN1 | Pathogenic | 15 | 48729201 | 48729201 | G | A | reviewed by expert panel | ClinGen:CA016495 |
| single nucleotide variant | NM_000138.5(FBN1):c.6453C>G (p.Cys2151Trp) | FBN1 | Pathogenic | 15 | 48729201 | 48729201 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA016487 |
| single nucleotide variant | NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48729229 | 48729229 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016442 |
| single nucleotide variant | NM_000138.5(FBN1):c.6418G>A (p.Gly2140Arg) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48729236 | 48729236 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016435 |
| Duplication | NM_000138.5(FBN1):c.6406_6407dup (p.Cys2137fs) | FBN1 | Pathogenic | 15 | 48729246 | 48729247 | G | GAC | criteria provided, single submitter | ClinGen:CA304353 |
| single nucleotide variant | NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48729266 | 48729266 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016399 |
| single nucleotide variant | NM_000138.5(FBN1):c.6313G>C (p.Glu2105Gln) | FBN1 | Likely pathogenic | 15 | 48729965 | 48729965 | C | G | criteria provided, single submitter | ClinGen:CA016334 |
| single nucleotide variant | NM_000138.5(FBN1):c.6274T>C (p.Trp2092Arg) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48730004 | 48730004 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA016311 |
| single nucleotide variant | NM_000138.5(FBN1):c.6251G>T (p.Cys2084Phe) | FBN1 | Likely pathogenic | 15 | 48730027 | 48730027 | C | A | criteria provided, single submitter | ClinGen:CA016301 |
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