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.14129+1G>TRYR1Likely pathogenic193906394839063948GTcriteria provided, single submitter-
single nucleotide variantNM_000540.3(RYR1):c.10687-2A>GRYR1Likely pathogenic193901828539018285AGcriteria provided, single submitter-
DeletionNC_000019.10:g.(?_38502501)_(38502976_?)delRYR1Pathogenic193899314138993616nanacriteria provided, single submitter-
single nucleotide variantNM_000540.3(RYR1):c.7615-1G>TRYR1Likely pathogenic193899314638993146GTcriteria provided, single submitter-
single nucleotide variantNM_000540.3(RYR1):c.11608+2T>CRYR1Likely pathogenic193902740939027409TCcriteria provided, single submitter-
single nucleotide variantNM_000540.3(RYR1):c.14684G>T (p.Gly4895Val)RYR1Pathogenic193907562039075620GTcriteria provided, single submitter-
single nucleotide variantNM_000540.3(RYR1):c.14667C>A (p.Tyr4889Ter)RYR1Pathogenic193907560339075603CAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000540.3(RYR1):c.14423T>G (p.Phe4808Cys)RYR1Likely pathogenic193907068039070680TGcriteria provided, single submitter-
single nucleotide variantNM_000540.3(RYR1):c.13892A>C (p.Tyr4631Ser)RYR1Pathogenic/Likely pathogenic193906280439062804ACcriteria provided, multiple submitters, no conflicts-