Knowledge base for genomic medicine in Japanese
先天性筋無力症候群
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn)GMPPBPathogenic/Likely pathogenic34975926849759268CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:615320.0001,UniProtKB (protein):Q9Y5P6#VAR_070148
single nucleotide variantNM_021971.4(GMPPB):c.553C>T (p.Arg185Cys)GMPPBPathogenic/Likely pathogenic34976003749760037GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:615320.0004,UniProtKB (protein):Q9Y5P6#VAR_070145
single nucleotide variantNM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)GMPPBPathogenic34975948949759489CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:615320.0006,UniProtKB (protein):Q9Y5P6#VAR_070146
single nucleotide variantNM_021971.4(GMPPB):c.79G>C (p.Asp27His)GMPPBPathogenic/Likely pathogenic34976108149761081CGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:615320.0007,UniProtKB (protein):Q9Y5P6#VAR_070143
single nucleotide variantNM_000334.4(SCN4A):c.664C>T (p.Arg222Trp)SCN4APathogenic/Likely pathogenic176204856162048561GAcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P35499#VAR_054935
single nucleotide variantNM_000334.4(SCN4A):c.3404G>A (p.Arg1135His)SCN4APathogenic176202444262024442CTcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P35499#VAR_054944
duplicationNM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)DOK7Pathogenic434948333494834AAGCCTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:610285.0001
duplicationNM_173660.5(DOK7):c.1263dup (p.Ser422fs)DOK7Pathogenic434949693494970GGCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:610285.0002
short repeatNM_173660.5(DOK7):c.1331_1334CTGG[4] (p.Gly448fs)DOK7Pathogenic434950433495044TTCTGGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:610285.0004
duplicationNM_173660.5(DOK7):c.1143dup (p.Glu382fs)DOK7Pathogenic434948513494852GGCcriteria provided, single submitterOMIM Allelic Variant:610285.0005