Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
遺伝性出血性末梢血管拡張症 (オスラー病)
小児・神経疾患
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_000020.3(ACVRL1):c.913T>C (p.Ser305Pro) | ACVRL1 | Pathogenic | 12 | 52309149 | 52309149 | T | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000020.3(ACVRL1):c.1115C>T (p.Thr372Ile) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52309886 | 52309886 | C | T | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_000020.3(ACVRL1):c.1144del (p.Asp382fs) | ACVRL1 | Pathogenic | 12 | 52309914 | 52309914 | TG | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_000020.3(ACVRL1):c.1321G>A (p.Val441Met) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52312843 | 52312843 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001114753.3(ENG):c.726C>A (p.Cys242Ter) | ENG | Pathogenic | 9 | 130587600 | 130587600 | G | T | criteria provided, single submitter | - |
| Duplication | NM_001114753.3(ENG):c.780_789dup (p.Asp264fs) | ENG | Likely pathogenic | 9 | 130587536 | 130587537 | C | CGATGAGCCAG | criteria provided, single submitter | - |
| single nucleotide variant | NM_001114753.3(ENG):c.1684C>T (p.Gln562Ter) | ENG | Pathogenic | 9 | 130580401 | 130580401 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001114753.3(ENG):c.1453G>T (p.Glu485Ter) | ENG | Pathogenic | 9 | 130580632 | 130580632 | C | A | criteria provided, single submitter | - |
| Duplication | NM_001114753.3(ENG):c.1247dup (p.Ser417fs) | ENG | Pathogenic | 9 | 130582203 | 130582204 | C | CA | criteria provided, single submitter | - |
| single nucleotide variant | NM_001114753.3(ENG):c.1088G>C (p.Cys363Ser) | ENG | Likely pathogenic | 9 | 130586629 | 130586629 | C | G | criteria provided, single submitter | - |
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