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.269G>T (p.Cys90Phe) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52307090 | 52307090 | G | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52307091 | 52307091 | C | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000020.3(ACVRL1):c.651G>A (p.Trp217Ter) | ACVRL1 | Pathogenic | 12 | 52308248 | 52308248 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000020.3(ACVRL1):c.655G>C (p.Gly219Arg) | ACVRL1 | Pathogenic | 12 | 52308252 | 52308252 | G | C | criteria provided, single submitter | - |
| single nucleotide variant | NM_000020.3(ACVRL1):c.685A>G (p.Lys229Glu) | ACVRL1 | Pathogenic | 12 | 52308282 | 52308282 | A | G | criteria provided, single submitter | - |
| single nucleotide variant | NM_000020.3(ACVRL1):c.1025T>C (p.Leu342Pro) | ACVRL1 | Likely pathogenic | 12 | 52309261 | 52309261 | T | C | criteria provided, single submitter | - |
| single nucleotide variant | NM_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52309266 | 52309266 | T | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000020.3(ACVRL1):c.1031G>T (p.Cys344Phe) | ACVRL1 | Pathogenic | 12 | 52309267 | 52309267 | G | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000020.3(ACVRL1):c.1046T>C (p.Leu349Pro) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52309282 | 52309282 | T | C | criteria provided, multiple submitters, no conflicts | - |
| Indel | NM_000020.3(ACVRL1):c.1188_1189delinsAA (p.Asp397Asn) | ACVRL1 | Likely pathogenic | 12 | 52309959 | 52309960 | TG | AA | criteria provided, single submitter | - |
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