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.3463G>A (p.Asp1155Asn) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48779509 | 48779509 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA014157 |
| Duplication | NM_000138.5(FBN1):c.3424_3427dup (p.Gly1143fs) | FBN1 | Pathogenic | 15 | 48779544 | 48779545 | C | CCAGG | criteria provided, single submitter | ClinGen:CA304347 |
| Duplication | NM_000138.5(FBN1):c.3401dup (p.Ser1135fs) | FBN1 | Pathogenic | 15 | 48779570 | 48779571 | T | TC | criteria provided, single submitter | ClinGen:CA304409 |
| single nucleotide variant | NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48779628 | 48779628 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA013984 |
| single nucleotide variant | NM_000138.5(FBN1):c.3173G>T (p.Gly1058Val) | FBN1 | Pathogenic | 15 | 48780600 | 48780600 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA013848 |
| single nucleotide variant | NM_000138.5(FBN1):c.3145G>T (p.Gly1049Cys) | FBN1 | Likely pathogenic | 15 | 48780628 | 48780628 | C | A | criteria provided, single submitter | ClinGen:CA013826 |
| single nucleotide variant | NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48782177 | 48782177 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA013585 |
| single nucleotide variant | NM_000138.5(FBN1):c.2806C>T (p.Gln936Ter) | FBN1 | Pathogenic | 15 | 48784706 | 48784706 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA013419 |
| Duplication | NM_000138.5(FBN1):c.2786_2789dup (p.Arg930delinsSerTer) | FBN1 | Pathogenic | 15 | 48784722 | 48784723 | C | CCTAG | criteria provided, single submitter | ClinGen:CA304346 |
| single nucleotide variant | NM_000138.5(FBN1):c.2728+1G>C | FBN1 | Pathogenic/Likely pathogenic | 15 | 48786400 | 48786400 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA013392 |
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