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.2984G>A (p.Trp995Ter)RYR1Pathogenic/Likely pathogenic193895684438956844GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000540.3(RYR1):c.3253G>A (p.Gly1085Ser)RYR1Likely pathogenic193895832438958324GAcriteria provided, single submitter-
DuplicationNM_000540.3(RYR1):c.4082dup (p.Gln1362fs)RYR1Pathogenic193896432938964330AACcriteria provided, single submitter-
single nucleotide variantNM_000540.3(RYR1):c.7343G>A (p.Gly2448Asp)RYR1Pathogenic193899126538991265GAcriteria provided, single submitter-
single nucleotide variantNM_000540.3(RYR1):c.7757T>A (p.Val2586Glu)RYR1Likely pathogenic193899328938993289TAcriteria provided, single submitter-
DeletionNM_000540.3(RYR1):c.7784_7791del (p.Leu2595fs)RYR1Pathogenic193899331638993323CTCACCAAGCcriteria provided, single submitter-
DuplicationNM_000540.3(RYR1):c.7954dup (p.Trp2652fs)RYR1Pathogenic/Likely pathogenic193899488538994886GGTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro)RYR1Pathogenic/Likely pathogenic193899842338998423TCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000540.3(RYR1):c.10799C>G (p.Ser3600Ter)RYR1Pathogenic193901839939018399CGcriteria provided, single submitter-
single nucleotide variantNM_000540.3(RYR1):c.11697G>C (p.Gln3899His)RYR1Likely pathogenic193903399439033994GCcriteria provided, single submitter-