Knowledge base for genomic medicine in Japanese
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悪性高熱症
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_000540.3(RYR1):c.11929C>T (p.Gln3977Ter) | RYR1 | Pathogenic/Likely pathogenic | 19 | 39034432 | 39034432 | C | T | criteria provided, multiple submitters, no conflicts | - |
| Duplication | NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs) | RYR1 | Pathogenic/Likely pathogenic | 19 | 39037133 | 39037134 | G | GAC | criteria provided, multiple submitters, no conflicts | - |
| Duplication | NM_000540.3(RYR1):c.12113dup (p.Met4038fs) | RYR1 | Pathogenic/Likely pathogenic | 19 | 39038890 | 39038891 | A | AT | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000540.3(RYR1):c.12624+1G>C | RYR1 | Likely pathogenic | 19 | 39052095 | 39052095 | G | C | criteria provided, single submitter | - |
| Deletion | NM_000540.3(RYR1):c.12978del (p.Glu4327fs) | RYR1 | Pathogenic/Likely pathogenic | 19 | 39055952 | 39055952 | GC | G | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_000540.3(RYR1):c.13220del (p.Gly4407fs) | RYR1 | Pathogenic | 19 | 39056192 | 39056192 | AG | A | criteria provided, single submitter | - |
| Deletion | NM_000540.3(RYR1):c.13260del (p.Asp4421fs) | RYR1 | Likely pathogenic | 19 | 39056234 | 39056234 | GA | G | criteria provided, single submitter | - |
| single nucleotide variant | NM_000540.3(RYR1):c.13437+1G>A | RYR1 | Pathogenic | 19 | 39056412 | 39056412 | G | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_000540.3(RYR1):c.13836G>A (p.Trp4612Ter) | RYR1 | Likely pathogenic | 19 | 39062748 | 39062748 | G | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_000540.3(RYR1):c.13892A>G (p.Tyr4631Cys) | RYR1 | Pathogenic/Likely pathogenic | 19 | 39062804 | 39062804 | A | G | criteria provided, multiple submitters, no conflicts | - |
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