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) | ||||||||||
| Duplication | NM_000138.5(FBN1):c.6793_6800dup (p.Leu2268fs) | FBN1 | Likely pathogenic | 15 | 48722938 | 48722939 | G | GTTCTTGCA | criteria provided, single submitter | ClinGen:CA281834 |
| single nucleotide variant | NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48722933 | 48722933 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA016742 |
| single nucleotide variant | NM_000138.5(FBN1):c.7229A>C (p.His2410Pro) | FBN1 | Likely pathogenic | 15 | 48718037 | 48718037 | T | G | criteria provided, single submitter | ClinGen:CA017104 |
| Deletion | NM_000138.5(FBN1):c.7678del (p.Gln2560fs) | FBN1 | Likely pathogenic | 15 | 48713776 | 48713776 | TG | T | criteria provided, single submitter | ClinGen:CA017330 |
| single nucleotide variant | NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48712897 | 48712897 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA017375 |
| single nucleotide variant | NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg) | FBN1 | Likely pathogenic | 15 | 48707905 | 48707905 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA017435 |
| single nucleotide variant | NM_000138.5(FBN1):c.7898G>C (p.Cys2633Ser) | FBN1 | Likely pathogenic | 15 | 48707886 | 48707886 | C | G | criteria provided, single submitter | ClinGen:CA017457 |
| Deletion | NM_000138.5(FBN1):c.8203del (p.Glu2735fs) | FBN1 | Likely pathogenic | 15 | 48704789 | 48704789 | TC | T | criteria provided, single submitter | ClinGen:CA017613 |
| Deletion | NM_000138.5(FBN1):c.8412_8417del (p.Lys2805_Ile2806del) | FBN1 | Likely pathogenic | 15 | 48703386 | 48703391 | GATTTTA | G | criteria provided, single submitter | ClinGen:CA017730 |
| single nucleotide variant | NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48782210 | 48782210 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA013513,OMIM:134797.0063 |
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