Knowledge base for genomic medicine in Japanese
家族性副甲状腺機能亢進症 (MEN以外)
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu)TRPV6Likely pathogenic7142572711142572711CTcriteria provided, single submitterOMIM:606680.0004
single nucleotide variantNM_018646.6(TRPV6):c.1274G>A (p.Arg425Gln)TRPV6Likely pathogenic7142572886142572886CTcriteria provided, single submitterOMIM:606680.0002
single nucleotide variantNM_018646.6(TRPV6):c.668T>C (p.Ile223Thr)TRPV6Pathogenic/Likely pathogenic7142574530142574530AGcriteria provided, multiple submitters, no conflictsOMIM:606680.0003
DuplicationNM_018646.6(TRPV6):c.530_533dup (p.Arg179fs)TRPV6Pathogenic7142574968142574969GGGCAAcriteria provided, multiple submitters, no conflictsOMIM:606680.0001
single nucleotide variantNM_004752.4(GCM2):c.408C>A (p.Tyr136Ter)GCM2Pathogenic61087672610876726GTcriteria provided, multiple submitters, no conflictsClinGen:CA362724360
DuplicationNM_004752.4(GCM2):c.456+2dupGCM2Pathogenic61087667510876676TTAcriteria provided, single submitterClinGen:CA3634073
DeletionNC_000006.12:g.(?_10875891)_(10881865_?)delGCM2Pathogenic61087612410882098nanacriteria provided, single submitter-
single nucleotide variantNM_004752.4(GCM2):c.1504A>G (p.Asn502Asp)GCM2Likely pathogenic61087424510874245TCcriteria provided, single submitterClinGen:CA3633870
single nucleotide variantNM_004752.4(GCM2):c.187G>A (p.Gly63Ser)GCM2Likely pathogenic61087752910877529CTcriteria provided, single submitterClinGen:CA117937,UniProtKB:O75603#VAR_058045,OMIM:603716.0003
DeletionNC_000001.11:g.(?_193122191)_(193250722_?)delCDC73Pathogenic1193091321193219852nanacriteria provided, single submitter-