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)
single nucleotide variantNM_174936.4(PCSK9):c.1061A>T (p.Asn354Ile)PCSK9Likely pathogenic15552306855523068ATcriteria provided, single submitterClinGen:CA340476503
single nucleotide variantNM_174936.4(PCSK9):c.386A>G (p.Asp129Gly)PCSK9Pathogenic/Likely pathogenic15550969455509694AGcriteria provided, multiple submitters, no conflictsClinGen:CA340483865
InsertionNM_174936.4(PCSK9):c.42_43insTG (p.Leu15fs)PCSK9Pathogenic15550555255505553AATGcriteria provided, single submitterClinGen:CA645372371
single nucleotide variantNM_174936.4(PCSK9):c.1120G>C (p.Asp374His)PCSK9Pathogenic15552312755523127GCcriteria provided, multiple submitters, no conflictsClinGen:CA10588875,UniProtKB:Q8NBP7#VAR_058531
single nucleotide variantNM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr)PCSK9Pathogenic/Likely pathogenic15552312755523127GTcriteria provided, multiple submitters, no conflictsClinGen:CA023106,UniProtKB:Q8NBP7#VAR_058532,OMIM:607786.0003
single nucleotide variantNM_174936.4(PCSK9):c.381T>A (p.Ser127Arg)PCSK9Pathogenic/Likely pathogenic15550968955509689TAcriteria provided, multiple submitters, no conflictsClinGen:CA023152,UniProtKB:Q8NBP7#VAR_017199,OMIM:607786.0001
DuplicationNM_015627.3(LDLRAP1):c.431dup (p.His144fs)LDLRAP1Pathogenic12588372925883730CCAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_015627.3(LDLRAP1):c.429C>A (p.Cys143Ter)LDLRAP1Pathogenic12588372825883728CAcriteria provided, single submitter-
DeletionNM_015627.3(LDLRAP1):c.71del (p.Gly24fs)LDLRAP1Pathogenic12587025425870254TGTcriteria provided, multiple submitters, no conflictsClinGen:CA521715353,OMIM:605747.0006
DuplicationNM_015627.3(LDLRAP1):c.603dup (p.Ser202fs)LDLRAP1Pathogenic12588962625889627AACcriteria provided, multiple submitters, no conflictsClinGen:CA695637,OMIM:605747.0009