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.3412T>C (p.Cys1138Arg) | FBN1 | Pathogenic | 15 | 48779560 | 48779560 | A | G | criteria provided, single submitter | ClinGen:CA392326402 |
| single nucleotide variant | NM_000138.5(FBN1):c.3289T>C (p.Cys1097Arg) | FBN1 | Likely pathogenic | 15 | 48780358 | 48780358 | A | G | criteria provided, single submitter | ClinGen:CA392327237 |
| single nucleotide variant | NM_000138.5(FBN1):c.3083A>G (p.Asp1028Gly) | FBN1 | Likely pathogenic | 15 | 48780690 | 48780690 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA392328329 |
| Deletion | NM_000138.5(FBN1):c.2814del (p.Ser939fs) | FBN1 | Pathogenic | 15 | 48784698 | 48784698 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369635 |
| single nucleotide variant | NM_000138.5(FBN1):c.737-2A>G | FBN1 | Likely pathogenic | 15 | 48826404 | 48826404 | T | C | criteria provided, single submitter | ClinGen:CA392352921 |
| single nucleotide variant | NM_000138.5(FBN1):c.8021G>A (p.Cys2674Tyr) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48707763 | 48707763 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA392322605 |
| single nucleotide variant | NM_000138.5(FBN1):c.6487G>T (p.Glu2163Ter) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48729167 | 48729167 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA392336293 |
| single nucleotide variant | NM_000138.5(FBN1):c.6113G>A (p.Cys2038Tyr) | FBN1 | Pathogenic | 15 | 48733968 | 48733968 | C | T | criteria provided, single submitter | ClinGen:CA269530715 |
| single nucleotide variant | NM_000138.5(FBN1):c.4489T>C (p.Cys1497Arg) | FBN1 | Likely pathogenic | 15 | 48760702 | 48760702 | A | G | criteria provided, single submitter | ClinGen:CA392353730 |
| single nucleotide variant | NM_000138.5(FBN1):c.3977G>A (p.Cys1326Tyr) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48766835 | 48766835 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA392320642 |
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