Knowledge base for genomic medicine in Japanese
悪性高熱症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000540.3(RYR1):c.2290C>T (p.Gln764Ter)RYR1Pathogenic/Likely pathogenic193894990838949908CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000540.3(RYR1):c.13892A>C (p.Tyr4631Ser)RYR1Pathogenic/Likely pathogenic193906280439062804ACcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro)RYR1Pathogenic/Likely pathogenic193899842338998423TCcriteria provided, multiple submitters, no conflicts-
DuplicationNM_000540.3(RYR1):c.7954dup (p.Trp2652fs)RYR1Pathogenic/Likely pathogenic193899488538994886GGTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)RYR1Pathogenic/Likely pathogenic193895684438956844GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter)CACNA1SPathogenic/Likely pathogenic1201044724201044724CTcriteria provided, multiple submitters, no conflicts-
DeletionNM_000069.3(CACNA1S):c.2812del (p.Leu938fs)CACNA1SPathogenic/Likely pathogenic1201035007201035007AGAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter)CACNA1SPathogenic/Likely pathogenic1201039491201039491GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter)CACNA1SPathogenic/Likely pathogenic1201058386201058386CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter)RYR1Pathogenic/Likely pathogenic193897405938974059CTcriteria provided, multiple submitters, no conflicts-