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.5700T>A (p.Cys1900Ter) | FBN1 | Pathogenic | 15 | 48738991 | 48738991 | A | T | criteria provided, single submitter | ClinGen:CA015978 |
| single nucleotide variant | NM_000138.5(FBN1):c.5699G>A (p.Cys1900Tyr) | FBN1 | Pathogenic | 15 | 48738992 | 48738992 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA015955 |
| single nucleotide variant | NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48744873 | 48744873 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA015799 |
| single nucleotide variant | NM_000138.5(FBN1):c.5208T>A (p.Cys1736Ter) | FBN1 | Pathogenic | 15 | 48755295 | 48755295 | A | T | criteria provided, single submitter | ClinGen:CA015708 |
| single nucleotide variant | NM_000138.5(FBN1):c.5197T>G (p.Cys1733Gly) | FBN1 | Pathogenic | 15 | 48755306 | 48755306 | A | C | criteria provided, single submitter | ClinGen:CA015699 |
| single nucleotide variant | NM_000138.5(FBN1):c.5097C>G (p.Tyr1699Ter) | FBN1 | Pathogenic | 15 | 48755406 | 48755406 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA015630 |
| single nucleotide variant | NM_000138.5(FBN1):c.5021G>T (p.Cys1674Phe) | FBN1 | Pathogenic | 15 | 48756140 | 48756140 | C | A | criteria provided, single submitter | ClinGen:CA015558 |
| single nucleotide variant | NM_000138.5(FBN1):c.5015G>A (p.Cys1672Tyr) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48756146 | 48756146 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA015547 |
| single nucleotide variant | NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48757777 | 48757777 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA015467 |
| single nucleotide variant | NM_000138.5(FBN1):c.4888C>T (p.Gln1630Ter) | FBN1 | Pathogenic | 15 | 48757819 | 48757819 | G | A | criteria provided, single submitter | ClinGen:CA015448 |
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