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.6689G>A (p.Cys2230Tyr) | FBN1 | Likely pathogenic | 15 | 48725113 | 48725113 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA392333422 |
| single nucleotide variant | NM_000138.5(FBN1):c.5587G>A (p.Gly1863Arg) | FBN1 | Likely pathogenic | 15 | 48741049 | 48741049 | C | T | criteria provided, single submitter | ClinGen:CA392342167 |
| single nucleotide variant | NM_000138.5(FBN1):c.5422+2T>C | FBN1 | Pathogenic/Likely pathogenic | 15 | 48748832 | 48748832 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA392345768 |
| single nucleotide variant | NM_000138.5(FBN1):c.4337-1G>A | FBN1 | Pathogenic/Likely pathogenic | 15 | 48762954 | 48762954 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA392354863 |
| single nucleotide variant | NM_000138.5(FBN1):c.3024T>A (p.Cys1008Ter) | FBN1 | Likely pathogenic | 15 | 48782106 | 48782106 | A | T | criteria provided, single submitter | ClinGen:CA392328996 |
| single nucleotide variant | NM_000138.5(FBN1):c.2939G>T (p.Cys980Phe) | FBN1 | Likely pathogenic | 15 | 48782191 | 48782191 | C | A | criteria provided, single submitter | ClinGen:CA392329615 |
| single nucleotide variant | NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48782270 | 48782270 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA392330212 |
| single nucleotide variant | NM_000138.5(FBN1):c.1916G>C (p.Cys639Ser) | FBN1 | Likely pathogenic | 15 | 48797266 | 48797266 | C | G | criteria provided, single submitter | ClinGen:CA392339043 |
| single nucleotide variant | NM_000138.5(FBN1):c.1511G>C (p.Cys504Ser) | FBN1 | Likely pathogenic | 15 | 48805823 | 48805823 | C | G | criteria provided, single submitter | ClinGen:CA392342609 |
| single nucleotide variant | NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48892377 | 48892377 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA392446521 |
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