Knowledge base for genomic medicine in Japanese
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悪性高熱症
小児・神経疾患
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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.10620C>G (p.Tyr3540Ter) | RYR1 | Pathogenic | 19 | 39016136 | 39016136 | C | G | criteria provided, single submitter | ClinGen:CA405644022 |
| single nucleotide variant | NM_000540.3(RYR1):c.784G>T (p.Glu262Ter) | RYR1 | Pathogenic | 19 | 38937392 | 38937392 | G | T | criteria provided, single submitter | ClinGen:CA405680456 |
| single nucleotide variant | NM_000540.3(RYR1):c.1901C>G (p.Thr634Arg) | RYR1 | Likely pathogenic | 19 | 38948246 | 38948246 | C | G | criteria provided, single submitter | ClinGen:CA405694267 |
| single nucleotide variant | NM_000540.3(RYR1):c.2870+1G>A | RYR1 | Pathogenic/Likely pathogenic | 19 | 38955363 | 38955363 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA064115 |
| single nucleotide variant | NM_000540.3(RYR1):c.5910G>C (p.Gln1970His) | RYR1 | Likely pathogenic | 19 | 38980811 | 38980811 | G | C | criteria provided, single submitter | ClinGen:CA405660469 |
| single nucleotide variant | NM_000540.3(RYR1):c.6127+1G>A | RYR1 | Pathogenic/Likely pathogenic | 19 | 38981373 | 38981373 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA405660953 |
| Deletion | NM_000540.3(RYR1):c.10725_10726del (p.Tyr3576fs) | RYR1 | Pathogenic/Likely pathogenic | 19 | 39018324 | 39018325 | CTG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA645373266 |
| single nucleotide variant | NM_000540.3(RYR1):c.14842C>A (p.Gln4948Lys) | RYR1 | Pathogenic | 19 | 39076616 | 39076616 | C | A | criteria provided, single submitter | ClinGen:CA405692397 |
| single nucleotide variant | NM_000540.3(RYR1):c.2575C>T (p.Gln859Ter) | RYR1 | Likely pathogenic | 19 | 38951229 | 38951229 | C | T | criteria provided, single submitter | ClinGen:CA405630467 |
| Deletion | NM_000540.3(RYR1):c.15047_15048del (p.Gln5016fs) | RYR1 | Likely pathogenic | 19 | 39077990 | 39077991 | CAA | C | criteria provided, single submitter | ClinGen:CA658658810 |
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