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.402del (p.Ala136fs)BBS2Pathogenic/Likely pathogenic165654514056545140GAGcriteria provided, multiple submitters, no conflicts-
DeletionNM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs)SPATA7Pathogenic/Likely pathogenic148889949788899498ATCAcriteria provided, multiple submitters, no conflictsOMIM:609868.0010
DeletionNM_004183.4(BEST1):c.1415del (p.Leu472fs)BEST1Pathogenic/Likely pathogenic116173004161730041CTCcriteria 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_000283.4(PDE6B):c.1699C>T (p.Gln567Ter)PDE6BPathogenic/Likely pathogenic4656007656007CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_031885.5(BBS2):c.1062C>G (p.Asn354Lys)BBS2Pathogenic/Likely pathogenic165653624756536247GCcriteria provided, multiple submitters, no conflicts-
DuplicationNM_001034853.2(RPGR):c.2899dup (p.Glu967fs)RPGRPathogenic/Likely pathogenicX3814535238145353TTCcriteria provided, multiple submitters, no conflicts-
DeletionNM_004183.4(BEST1):c.247+2delBEST1Pathogenic/Likely pathogenic116172267561722675GTGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg)EYSPathogenic/Likely pathogenic66443114864431148AGcriteria provided, multiple submitters, no conflicts-
DeletionNM_000322.5(PRPH2):c.331del (p.Ile111fs)PRPH2Pathogenic/Likely pathogenic64268974242689742ATAcriteria provided, multiple submitters, no conflicts-