Knowledge base for genomic medicine in Japanese
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肺動脈性肺高血圧症
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.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 |
| single nucleotide variant | NM_000020.3(ACVRL1):c.639T>G (p.Tyr213Ter) | ACVRL1 | Pathogenic | 12 | 52308236 | 52308236 | T | G | criteria provided, single submitter | ClinGen:CA384899973 |
| single nucleotide variant | NM_000020.3(ACVRL1):c.1048+2T>G | ACVRL1 | Likely pathogenic | 12 | 52309286 | 52309286 | T | G | criteria provided, single submitter | ClinGen:CA384901886 |
| Deletion | NM_000020.3(ACVRL1):c.271del (p.Asp91fs) | ACVRL1 | Pathogenic | 12 | 52307092 | 52307092 | CG | C | criteria provided, single submitter | ClinGen:CA645509322 |
| single nucleotide variant | NM_000020.3(ACVRL1):c.626-3C>G | ACVRL1 | Pathogenic | 12 | 52308220 | 52308220 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA645509324 |
| single nucleotide variant | NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52309150 | 52309150 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA384900954 |
| single nucleotide variant | NM_000020.3(ACVRL1):c.1270C>T (p.Pro424Ser) | ACVRL1 | Likely pathogenic | 12 | 52312792 | 52312792 | C | T | criteria provided, single submitter | ClinGen:CA384903729 |
| single nucleotide variant | NM_000020.3(ACVRL1):c.1355C>T (p.Pro452Leu) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52312877 | 52312877 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA384904714 |
| single nucleotide variant | NM_000020.3(ACVRL1):c.525+1G>A | ACVRL1 | Pathogenic | 12 | 52307555 | 52307555 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA384899370 |
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