Knowledge base for genomic medicine in Japanese
家族性高コレステロール血症
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
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.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
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
InsertionNM_174936.4(PCSK9):c.42_43insTG (p.Leu15fs)PCSK9Pathogenic15550555255505553AATGcriteria provided, single submitterClinGen:CA645372371
single nucleotide variantNM_000163.5(GHR):c.945G>A (p.Lys315=)GHRPathogenic54271822342718223GAcriteria provided, single submitterClinGen:CA443805565
single nucleotide variantNM_000163.5(GHR):c.703C>T (p.Arg235Ter)GHRPathogenic54271139342711393CTcriteria provided, multiple submitters, no conflictsClinGen:CA119802,OMIM:600946.0009
single nucleotide variantNM_000163.5(GHR):c.618+792A>GGHRPathogenic54270089642700896AGcriteria provided, single submitterOMIM:600946.0025
single nucleotide variantNM_000163.5(GHR):c.594A>G (p.Glu198=)GHRPathogenic54270008042700080AGcriteria provided, single submitterClinGen:CA119795,OMIM:600946.0005