Knowledge base for genomic medicine in Japanese
網膜色素変性症
小児・神経疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)RPE65Pathogenic/Likely pathogenic16889719268897192CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000440.3(PDE6A):c.1620+1G>APDE6APathogenic/Likely pathogenic5149275918149275918CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys)SNRNP200Pathogenic/Likely pathogenic29695882996958829GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000539.3(RHO):c.408C>A (p.Tyr136Ter)RHOPathogenic/Likely pathogenic3129249765129249765CAcriteria provided, multiple submitters, no conflicts-
deletionNM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs)SPATA7Pathogenic/Likely pathogenic148889949788899498ATCAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter)EYSPathogenic/Likely pathogenic66443653464436534ACcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000283.3(PDE6B):c.1699C>T (p.Gln567Ter)PDE6BPathogenic/Likely pathogenic4656007656007CTcriteria provided, multiple submitters, no conflicts-
duplicationNM_000328.3(RPGR):c.1905+990dupRPGRPathogenic/Likely pathogenicX3814535238145353TTCcriteria provided, multiple submitters, no conflicts-
deletionNM_004183.4(BEST1):c.247+2delBEST1Pathogenic/Likely pathogenic116172267561722675GTGcriteria provided, multiple submitters, no conflicts-
deletionNM_000322.5(PRPH2):c.331del (p.Ile111fs)PRPH2Pathogenic/Likely pathogenic64268974242689742ATAcriteria provided, multiple submitters, no conflicts-