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.6354C>G (p.Ile2118Met) | FBN1 | Likely pathogenic | 15 | 48729544 | 48729544 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA016350 |
| Deletion | NM_000138.5(FBN1):c.5888del (p.Glu1963fs) | FBN1 | Likely pathogenic | 15 | 48737602 | 48737602 | CT | C | criteria provided, single submitter | ClinGen:CA016147 |
| Deletion | NM_000138.5(FBN1):c.4675_4718del (p.Lys1559fs) | FBN1 | Likely pathogenic | 15 | 48760164 | 48760207 | AGGAGTACCCCAGGCTTTACCCAGAGAACAGCAGCAGGAAGCTTT | A | criteria provided, single submitter | ClinGen:CA015290 |
| single nucleotide variant | NM_000138.5(FBN1):c.3546C>A (p.Cys1182Ter) | FBN1 | Pathogenic | 15 | 48779315 | 48779315 | G | T | criteria provided, single submitter | ClinGen:CA014263 |
| single nucleotide variant | NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48782093 | 48782093 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA013681 |
| single nucleotide variant | NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) | FBN1 | Pathogenic | 15 | 48797303 | 48797303 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA012647 |
| Deletion | NM_000138.5(FBN1):c.8473_8475del (p.Gly2825del) | FBN1 | Likely pathogenic | 15 | 48703328 | 48703330 | TTCC | T | criteria provided, single submitter | ClinGen:CA017763 |
| single nucleotide variant | NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter) | FBN1 | Pathogenic | 15 | 48704912 | 48704912 | G | A | reviewed by expert panel | ClinGen:CA017544 |
| single nucleotide variant | NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) | FBN1 | Pathogenic | 15 | 48714179 | 48714179 | C | T | reviewed by expert panel | ClinGen:CA017250 |
| single nucleotide variant | NM_000138.5(FBN1):c.6886C>T (p.Gln2296Ter) | FBN1 | Pathogenic | 15 | 48720654 | 48720654 | G | A | criteria provided, single submitter | ClinGen:CA016813 |
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