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.4526A>G (p.Tyr1509Cys) | FBN1 | Likely pathogenic | 15 | 48760665 | 48760665 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA015164 |
| single nucleotide variant | NM_000138.5(FBN1):c.4453T>C (p.Cys1485Arg) | FBN1 | Pathogenic | 15 | 48762837 | 48762837 | A | G | criteria provided, single submitter | ClinGen:CA015083 |
| single nucleotide variant | NM_000138.5(FBN1):c.4210+1G>A | FBN1 | Pathogenic/Likely pathogenic | 15 | 48766451 | 48766451 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA014835 |
| single nucleotide variant | NM_000138.5(FBN1):c.3131G>A (p.Cys1044Tyr) | FBN1 | Pathogenic | 15 | 48780642 | 48780642 | C | T | criteria provided, single submitter | ClinGen:CA013806 |
| single nucleotide variant | NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) | FBN1 | Pathogenic | 15 | 48802322 | 48802322 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA012342 |
| single nucleotide variant | NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48808422 | 48808422 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA012048 |
| single nucleotide variant | NM_000138.5(FBN1):c.1A>G (p.Met1Val) | FBN1 | Pathogenic | 15 | 48936966 | 48936966 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA012702 |
| Deletion | NM_000138.5(FBN1):c.8544del (p.Lys2848fs) | FBN1 | Pathogenic | 15 | 48703259 | 48703259 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA017809 |
| single nucleotide variant | NM_000138.5(FBN1):c.8226+5G>A | FBN1 | Pathogenic/Likely pathogenic | 15 | 48704761 | 48704761 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA017638 |
| Duplication | NM_000138.5(FBN1):c.8154dup (p.Lys2719Ter) | FBN1 | Pathogenic | 15 | 48704837 | 48704838 | T | TA | criteria provided, single submitter | ClinGen:CA304355 |
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