Knowledge base for genomic medicine in Japanese
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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.1460A>C (p.Lys487Thr) | ACVRL1 | Likely pathogenic | 12 | 52314625 | 52314625 | A | C | criteria provided, single submitter | ClinGen:CA384905912 |
| single nucleotide variant | NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter) | ACVRL1 | Pathogenic | 12 | 52314633 | 52314633 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA384906013 |
| Deletion | NM_000020.3(ACVRL1):c.295_299del (p.Val99fs) | ACVRL1 | Pathogenic | 12 | 52307115 | 52307119 | ACGTGT | A | criteria provided, single submitter | ClinGen:CA645294069 |
| Deletion | NM_001114753.3(ENG):c.1195_1196del (p.Arg399fs) | ENG | Pathogenic/Likely pathogenic | 9 | 130582255 | 130582256 | CCT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369413 |
| Deletion | NM_001114753.3(ENG):c.1195del (p.Arg399fs) | ENG | Pathogenic | 9 | 130582256 | 130582256 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369414 |
| single nucleotide variant | NM_001114753.3(ENG):c.526C>T (p.Gln176Ter) | ENG | Pathogenic | 9 | 130588137 | 130588137 | G | A | criteria provided, single submitter | ClinGen:CA374983805 |
| single nucleotide variant | NM_001114753.3(ENG):c.374T>A (p.Val125Asp) | ENG | Likely pathogenic | 9 | 130588938 | 130588938 | A | T | criteria provided, single submitter | ClinGen:CA374984418 |
| single nucleotide variant | NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52309906 | 52309906 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA384902497 |
| single nucleotide variant | NM_000020.3(ACVRL1):c.1285G>T (p.Val429Leu) | ACVRL1 | Likely pathogenic | 12 | 52312807 | 52312807 | G | T | criteria provided, single submitter | ClinGen:CA384903827 |
| Deletion | NM_001114753.3(ENG):c.1084_1085del (p.Lys362fs) | ENG | Pathogenic | 9 | 130586632 | 130586633 | CTT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA645372488 |
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