Knowledge base for genomic medicine in Japanese
家族性高コレステロール血症
循環器・内分泌疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
deletionNM_000527.4(LDLR):c.653del (p.Gly218fs)LDLRPathogenic/Likely pathogenic191121623411216234TGTcriteria provided, multiple submitters, no conflictsLDLR @ LOVD:LDLR_001788
duplicationNM_000527.5(LDLR):c.2061dup (p.Asn688fs)LDLRPathogenic191123111911231119TTCcriteria provided, multiple submitters, no conflictsLDLR @ LOVD:LDLR_001158
single nucleotide variantNM_000384.3(APOB):c.7537C>T (p.Arg2513Ter)APOBPathogenic22123220321232203GAcriteria provided, single submitter-
single nucleotide variantNM_174936.3(PCSK9):c.381T>A (p.Ser127Arg)PCSK9Pathogenic/Likely pathogenic15550968955509689TAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:607786.0001,UniProtKB (protein):Q8NBP7#VAR_017199
single nucleotide variantNM_174936.3(PCSK9):c.1120G>T (p.Asp374Tyr)PCSK9Pathogenic/Likely pathogenic15552312755523127GTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:607786.0003,UniProtKB (protein):Q8NBP7#VAR_058532
single nucleotide variantNM_000527.5(LDLR):c.97C>T (p.Gln33Ter)LDLRPathogenic191121092811210928CTcriteria provided, multiple submitters, no conflictsLDLR @ LOVD:LDLR_001896,OMIM Allelic Variant:606945.0001
single nucleotide variantNM_000527.5(LDLR):c.259T>G (p.Trp87Gly)LDLRPathogenic/Likely pathogenic191121340811213408TGcriteria provided, multiple submitters, no conflictsLDLR @ LOVD:LDLR_001671,OMIM Allelic Variant:606945.0003,UniProtKB (protein):P01130#VAR_005308
single nucleotide variantNM_000527.5(LDLR):c.530C>T (p.Ser177Leu)LDLRPathogenic/Likely pathogenic191121611211216112CTcriteria provided, multiple submitters, no conflictsLDLR @ LOVD:LDLR_001756,OMIM Allelic Variant:606945.0004,UniProtKB (protein):P01130#VAR_005327
single nucleotide variantNM_000527.5(LDLR):c.1694G>T (p.Gly565Val)LDLRPathogenic/Likely pathogenic191122687711226877GTcriteria provided, multiple submitters, no conflictsLDLR @ LOVD:LDLR_000424,OMIM Allelic Variant:606945.0014,UniProtKB (protein):P01130#VAR_005401
single nucleotide variantNM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)LDLRPathogenic/Likely pathogenic191123105811231058GAcriteria provided, multiple submitters, no conflictsLDLR @ LOVD:LDLR_000274,OMIM Allelic Variant:606945.0015,UniProtKB (protein):P01130#VAR_005407