Knowledge base for genomic medicine in Japanese
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小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_170707.4(LMNA):c.877C>T (p.Gln293Ter)LMNAPathogenic1156105044156105044CTcriteria provided, single submitterClinGen:CA342817717
DeletionNM_170707.4(LMNA):c.1436del (p.Leu479fs)LMNAPathogenic/Likely pathogenic1156106767156106767CTCcriteria provided, multiple submitters, no conflictsClinGen:CA658656966
single nucleotide variantNM_170707.4(LMNA):c.936+1G>ALMNAPathogenic1156105104156105104GAcriteria provided, single submitterClinGen:CA342818117
single nucleotide variantNM_020451.3(SELENON):c.665G>A (p.Trp222Ter)SELENONPathogenic12613519826135198GAcriteria provided, single submitterClinGen:CA339112027
single nucleotide variantNM_020451.3(SELENON):c.1406G>A (p.Arg469Gln)SELENONPathogenic/Likely pathogenic12614039026140390GAcriteria provided, multiple submitters, no conflictsClinGen:CA19699053
single nucleotide variantNM_020451.3(SELENON):c.2T>G (p.Met1Arg)SELENONPathogenic12612672326126723TGcriteria provided, single submitterClinGen:CA339105612
single nucleotide variantNM_020451.3(SELENON):c.1469G>A (p.Trp490Ter)SELENONPathogenic/Likely pathogenic12614045326140453GAcriteria provided, multiple submitters, no conflictsClinGen:CA19699056
DeletionNC_000002.12:g.(?_237362747)_(237372158_?)delCOL6A3Likely pathogenic2238271390238280801nanacriteria provided, single submitter-
single nucleotide variantNM_004369.4(COL6A3):c.2620C>T (p.Arg874Ter)COL6A3Pathogenic2238285865238285865GAcriteria provided, single submitterClinGen:CA351211117
single nucleotide variantNM_004369.4(COL6A3):c.7331G>C (p.Arg2444Pro)COL6A3Likely pathogenic2238253330238253330CGcriteria provided, single submitterClinGen:CA351203731