Knowledge base for genomic medicine in Japanese
ヘモクロマトーシス
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000410.3(HFE):c.502G>T (p.Glu168Ter)HFEPathogenic62609170326091703GTcriteria provided, single submitter-
single nucleotide variantNM_000410.3(HFE):c.848A>C (p.Gln283Pro)HFEPathogenic62609314426093144ACcriteria provided, single submitterOMIM Allelic Variant:613609.0011,UniProtKB (protein):Q30201#VAR_037304
single nucleotide variantNM_000410.3(HFE):c.892G>T (p.Glu298Ter)HFEPathogenic62609318826093188GTcriteria provided, single submitter-
deletionNM_139003.3(HFE):c.340+415_340+416delHFEPathogenic62609174726091748ACCAcriteria provided, single submitter-
single nucleotide variantNM_001200.4(BMP2):c.79G>T (p.Glu27Ter)BMP2Likely pathogenic2067508526750852GTcriteria provided, single submitterOMIM Allelic Variant:112261.0003
single nucleotide variantNM_001200.4(BMP2):c.987C>A (p.Cys329Ter)BMP2Likely pathogenic2067595326759532CAcriteria provided, single submitterOMIM Allelic Variant:112261.0006
deletionNM_139011.3(HFE):c.77-289delHFEPathogenic62609305626093056TATcriteria provided, single submitter-
single nucleotide variantNM_001200.4(BMP2):c.43C>T (p.Gln15Ter)BMP2Pathogenic2067508166750816CTcriteria provided, single submitter-
indelNM_000410.3(HFE):c.77-2_78delinsTGGAGTCHFELikely pathogenic62609106726091070AGGTTGGAGTCcriteria provided, single submitter-