Knowledge base for genomic medicine in Japanese
遺伝性圧脆弱性ニューロパチー
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
copy number gainGRCh37/hg19 17p12(chr17:15133960-15169915)x3PMP22Pathogenic171513396015169915nanacriteria provided, single submitter-
copy number lossGRCh37/hg19 17p12(chr17:15133960-15169915)x1PMP22Pathogenic171513396015169915nanacriteria provided, single submitter-
copy number gainGRCh37/hg19 17p12(chr17:14413312-15169915)x3PMP22Pathogenic171441331215169915nanacriteria provided, single submitter-
single nucleotide variantNM_000304.4(PMP22):c.117G>A (p.Trp39Ter)PMP22Pathogenic171516247215162472CTcriteria provided, multiple submitters, no conflictsClinGen:CA10604162
single nucleotide variantNM_000304.4(PMP22):c.448G>C (p.Gly150Arg)PMP22Pathogenic/Likely pathogenic171513426915134269CGcriteria provided, multiple submitters, no conflictsClinGen:CA16607534
single nucleotide variantNM_000304.4(PMP22):c.449G>T (p.Gly150Val)PMP22Pathogenic171513426815134268CAcriteria provided, single submitterClinGen:CA398739500
single nucleotide variantNM_000304.4(PMP22):c.431C>G (p.Pro144Arg)PMP22Likely pathogenic171513428615134286GCcriteria provided, single submitterClinGen:CA398739549
single nucleotide variantNM_000304.4(PMP22):c.228C>G (p.Ser76Arg)PMP22Likely pathogenic171514287915142879GCcriteria provided, single submitterClinGen:CA398268148
DuplicationNC_000017.10:g.(?_15134214)_(15162530_?)dupPMP22Pathogenic171513421415162530nanacriteria provided, single submitter-
single nucleotide variantNM_000304.4(PMP22):c.390C>G (p.Tyr130Ter)PMP22Likely pathogenic171513432715134327GCcriteria provided, multiple submitters, no conflictsClinGen:CA398739656