Knowledge base for genomic medicine in Japanese
網膜色素変性症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_031885.5(BBS2):c.940+1delBBS2Likely pathogenic165653658456536584ACAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_031885.5(BBS2):c.471+1G>ABBS2Likely pathogenic165654507056545070CTcriteria provided, single submitter-
DeletionNM_152419.3(HGSNAT):c.1170del (p.Trp390fs)HGSNATPathogenic84304665743046657TGTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004183.4(BEST1):c.888C>G (p.Asn296Lys)BEST1Pathogenic116172699061726990CGcriteria provided, single submitter-
single nucleotide variantNM_000329.3(RPE65):c.718G>T (p.Val240Phe)RPE65Likely pathogenic16890525168905251CAcriteria provided, multiple submitters, no conflicts-
DuplicationNM_000329.3(RPE65):c.361dup (p.Ser121fs)RPE65Pathogenic16891034768910348GGAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_152443.3(RDH12):c.524C>T (p.Ser175Leu)RDH12Pathogenic/Likely pathogenic146819377368193773CTcriteria provided, multiple submitters, no conflicts-
DeletionNM_003611.3(OFD1):c.112-2delOFD1Likely pathogenicX1375459513754595TATcriteria provided, single submitter-
InsertionNM_003611.3(OFD1):c.220_221insTAAAAGAGCTGC (p.Ser74delinsLeuLysGluLeuPro)OFD1Likely pathogenicX1375470513754706TTTAAAAGAGCTGCcriteria provided, single submitter-
single nucleotide variantNM_003611.3(OFD1):c.344T>A (p.Ile115Asn)OFD1PathogenicX1375699613756996TAcriteria provided, single submitter-