Knowledge base for genomic medicine in Japanese
脊髄性筋萎縮症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys)IGHMBP2Pathogenic116870193468701934GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:600502.0001,UniProtKB (protein):P38935#VAR_022330
single nucleotide variantNM_002180.2(IGHMBP2):c.638A>G (p.His213Arg)IGHMBP2Likely pathogenic116867899868678998AGcriteria provided, single submitterOMIM Allelic Variant:600502.0002,UniProtKB (protein):P38935#VAR_022322
single nucleotide variantNM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile)IGHMBP2Likely pathogenic116870287268702872GAcriteria provided, single submitterOMIM Allelic Variant:600502.0003,UniProtKB (protein):P38935#VAR_022334
deletionNM_002180.2(IGHMBP2):c.675del (p.Glu226fs)IGHMBP2Pathogenic116867903468679034GTGcriteria provided, single submitterOMIM Allelic Variant:600502.0005
single nucleotide variantNM_002180.2(IGHMBP2):c.2611+1G>TIGHMBP2Pathogenic/Likely pathogenic116870456068704560GTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:600502.0007
single nucleotide variantNM_000344.3(SMN1):c.785G>T (p.Ser262Ile)SMN1Pathogenic/Likely pathogenic57024195470241954GTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:600354.0003,UniProtKB (protein):Q16637#VAR_005616
single nucleotide variantNM_000344.3(SMN1):c.815A>G (p.Tyr272Cys)SMN1Pathogenic/Likely pathogenic57024198470241984AGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:600354.0004,UniProtKB (protein):Q16637#VAR_005617
single nucleotide variantNM_000344.3(SMN1):c.5C>G (p.Ala2Gly)SMN1Pathogenic57022093570220935CGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:600354.0006,UniProtKB (protein):Q16637#VAR_005615
single nucleotide variantNM_000344.3(SMN1):c.305G>A (p.Trp102Ter)SMN1Pathogenic57023821670238216GAcriteria provided, single submitterOMIM Allelic Variant:600354.0010
single nucleotide variantNM_000344.3(SMN1):c.283G>C (p.Gly95Arg)SMN1Pathogenic57023819470238194GCcriteria provided, single submitterOMIM Allelic Variant:600354.0014,UniProtKB (protein):Q16637#VAR_034805