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)
DeletionNM_000384.3(APOB):c.5566_5567del (p.Val1856fs)APOBPathogenic22123417321234174AACAcriteria provided, single submitterClinGen:CA022868,OMIM:107730.0004
single nucleotide variantNM_000384.3(APOB):c.6253C>T (p.Arg2085Ter)APOBPathogenic/Likely pathogenic22123348721233487GAcriteria provided, multiple submitters, no conflictsClinGen:CA022883,OMIM:107730.0006
single nucleotide variantNM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)APOBPathogenic/Likely pathogenic22122916021229160CTcriteria provided, multiple submitters, no conflictsClinGen:CA022750,OMIM:107730.0009
DeletionNM_000384.3(APOB):c.9200del (p.Lys3067fs)APOBPathogenic22123054021230540CTCcriteria provided, single submitterClinGen:CA022945,OMIM:107730.0012
single nucleotide variantNM_000384.3(APOB):c.7564C>T (p.Arg2522Ter)APOBPathogenic22123217621232176GAcriteria provided, single submitterClinGen:CA022919,OMIM:107730.0015
DeletionNM_000384.3(APOB):c.11712del (p.Asn3904fs)APOBPathogenic22122802821228028TGTcriteria provided, single submitterClinGen:CA022765,OMIM:107730.0016
single nucleotide variantNM_000384.3(APOB):c.819-2A>GAPOBLikely pathogenic22125777521257775TCcriteria provided, single submitterOMIM:107730.0018
single nucleotide variantNM_000384.3(APOB):c.3600T>A (p.Tyr1200Ter)APOBPathogenic22123804121238041ATcriteria provided, single submitterClinGen:CA022822,OMIM:107730.0021
single nucleotide variantNM_000527.5(LDLR):c.2140+86C>GLDLRPathogenic/Likely pathogenic191123128411231284CGcriteria provided, multiple submitters, no conflictsClinGen:CA023647,LDLR-LOVD, British Heart Foundation:LDLR_000284,OMIM:606945.0067
single nucleotide variantNM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)LDLRLikely pathogenic191122144211221442GAreviewed by expert panelLDLR-LOVD, British Heart Foundation:LDLR_001339,UniProtKB:P01130#VAR_005369,ClinGen:CA023408