Knowledge base for genomic medicine in Japanese
シャルコー・マリー・トゥース病
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_006158.4(NEFL):c.995A>C (p.Gln332Pro)NEFLPathogenic82481303524813035TGcriteria provided, single submitterOMIM Allelic Variant:162280.0001,UniProtKB (protein):P07196#VAR_009703
single nucleotide variantNM_006158.4(NEFL):c.64C>T (p.Pro22Ser)NEFLPathogenic/Likely pathogenic82481396624813966GAcriteria provided, single submitterOMIM Allelic Variant:162280.0002,UniProtKB (protein):P07196#VAR_016021
single nucleotide variantNM_000530.6(MPZ):c.270C>A (p.Asp90Glu)MPZPathogenic1161276676161276676GTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:159440.0002,UniProtKB (protein):P25189#VAR_004515
single nucleotide variantNM_000530.6(MPZ):c.188C>G (p.Ser63Cys)MPZPathogenic1161277094161277094GCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:159440.0004,UniProtKB (protein):P25189#VAR_004508
single nucleotide variantNM_000530.6(MPZ):c.499G>C (p.Gly167Arg)MPZPathogenic1161276204161276204CGcriteria provided, single submitterOMIM Allelic Variant:159440.0005,UniProtKB (protein):P25189#VAR_004544
single nucleotide variantNM_000530.6(MPZ):c.404T>C (p.Ile135Thr)MPZPathogenic1161276542161276542AGcriteria provided, single submitterOMIM Allelic Variant:159440.0007,UniProtKB (protein):P25189#VAR_004539
single nucleotide variantNM_000530.7(MPZ):c.409G>A (p.Gly137Ser)MPZLikely pathogenic1161276537161276537CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:159440.0008,UniProtKB (protein):P25189#VAR_004540
single nucleotide variantNM_000530.6(MPZ):c.293G>C (p.Arg98Pro)MPZPathogenic1161276653161276653CGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:159440.0009,UniProtKB (protein):P25189#VAR_004520
single nucleotide variantNM_000530.6(MPZ):c.292C>T (p.Arg98Cys)MPZPathogenic1161276654161276654GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:159440.0010,UniProtKB (protein):P25189#VAR_004518
single nucleotide variantNM_000530.6(MPZ):c.293G>A (p.Arg98His)MPZPathogenic/Likely pathogenic1161276653161276653CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:159440.0011,UniProtKB (protein):P25189#VAR_004519