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.1129G>A (p.Ala377Thr) | ACVRL1 | Pathogenic | 12 | 52309900 | 52309900 | G | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_000020.3(ACVRL1):c.1220A>G (p.Glu407Gly) | ACVRL1 | Likely pathogenic | 12 | 52309991 | 52309991 | A | G | criteria provided, single submitter | - |
| single nucleotide variant | NM_000020.3(ACVRL1):c.1246+1G>A | ACVRL1 | Pathogenic | 12 | 52310018 | 52310018 | G | A | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_000020.3(ACVRL1):c.145del (p.Ala49fs) | ACVRL1 | Pathogenic | 12 | 52306961 | 52306961 | CG | C | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_000020.3(ACVRL1):c.1042del (p.Asp348fs) | ACVRL1 | Pathogenic | 12 | 52309278 | 52309278 | CG | C | criteria provided, single submitter | - |
| single nucleotide variant | NM_000020.3(ACVRL1):c.1048G>C (p.Gly350Arg) | ACVRL1 | Pathogenic | 12 | 52309284 | 52309284 | G | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000020.3(ACVRL1):c.940C>T (p.His314Tyr) | ACVRL1 | Pathogenic | 12 | 52309176 | 52309176 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000020.3(ACVRL1):c.526-1G>A | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52307757 | 52307757 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000020.3(ACVRL1):c.1221G>T (p.Glu407Asp) | ACVRL1 | Pathogenic | 12 | 52309992 | 52309992 | G | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000020.3(ACVRL1):c.1378-216C>G | ACVRL1 | Pathogenic | 12 | 52314327 | 52314327 | C | G | criteria provided, single submitter | OMIM:601284.0016 |
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