Knowledge base for genomic medicine in Japanese
家族性高コレステロール血症
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNC_000019.10:g.(?_11120082)_(11120608_?)delLDLRPathogenic191123075811231284nanacriteria provided, single submitter-
DuplicationNC_000019.9:g.(?_11230758)_(11240356_?)dupLDLRPathogenic191123075811240356nanacriteria provided, single submitter-
single nucleotide variantNM_000527.5(LDLR):c.1987+2T>ALDLRPathogenic191123091111230911TAcriteria provided, single submitter-
DeletionNC_000019.10:g.(?_11100213)_(11107528_?)delLDLRPathogenic191121088911218204nanacriteria provided, single submitter-
DeletionNC_000019.10:g.(?_11105210)_(11107528_?)delLDLRPathogenic191121588611218204nanacriteria provided, single submitter-
DeletionNC_000019.10:g.(?_11116849)_(11120608_?)delLDLRPathogenic191122752511231284nanacriteria provided, single submitter-
single nucleotide variantNM_000527.5(LDLR):c.1987+2T>GLDLRPathogenic/Likely pathogenic191123091111230911TGcriteria provided, multiple submitters, no conflicts-
DeletionNM_000527.5(LDLR):c.2370_2389+20delLDLRLikely pathogenic191123874211238781TGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCTcriteria provided, single submitter-