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悪性高熱症
小児・神経疾患
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| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| single nucleotide variant | NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) | CACNA1S | Pathogenic | 1 | 201022666 | 201022666 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004054,UniProtKB:Q13698#VAR_001502,OMIM:114208.0001 |
| single nucleotide variant | NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly) | CACNA1S | Pathogenic | 1 | 201022667 | 201022667 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA004048,UniProtKB:Q13698#VAR_001501,OMIM:114208.0002 |
| single nucleotide variant | NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) | CACNA1S | Pathogenic | 1 | 201047043 | 201047043 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004021,UniProtKB:Q13698#VAR_001499,OMIM:114208.0003 |
| single nucleotide variant | NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu) | CACNA1S | Likely pathogenic | 1 | 201036045 | 201036045 | A | T | criteria provided, single submitter | ClinGen:CA004028,OMIM:114208.0009 |
| single nucleotide variant | NM_000069.3(CACNA1S):c.3256C>A (p.Arg1086Ser) | CACNA1S | Likely pathogenic | 1 | 201029944 | 201029944 | G | T | criteria provided, single submitter | ClinGen:CA004036 |
| single nucleotide variant | NM_000069.3(CACNA1S):c.2707C>T (p.Arg903Ter) | CACNA1S | Pathogenic/Likely pathogenic | 1 | 201035395 | 201035395 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617039 |
| single nucleotide variant | NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu) | CACNA1S | Likely pathogenic | 1 | 201047043 | 201047043 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA35978916 |
| single nucleotide variant | NM_000069.3(CACNA1S):c.1503C>A (p.Cys501Ter) | CACNA1S | Pathogenic | 1 | 201047123 | 201047123 | G | T | criteria provided, single submitter | ClinGen:CA344121959 |
| single nucleotide variant | NM_000069.3(CACNA1S):c.2690G>A (p.Arg897Lys) | CACNA1S | Pathogenic | 1 | 201035412 | 201035412 | C | T | criteria provided, single submitter | ClinGen:CA344102557 |
| single nucleotide variant | NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) | CACNA1S | Pathogenic/Likely pathogenic | 1 | 201061139 | 201061139 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA35996896 |
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