Knowledge base for genomic medicine in Japanese
X染色体連鎖性低リン血症性くる病
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_000444.6(PHEX):c.2239_*2del (p.Arg747fs)PHEXPathogenicX2226605922266072CCGACTCTGGTAGCTCcriteria provided, single submitterClinGen:CA645509401
single nucleotide variantNM_000444.6(PHEX):c.2245T>C (p.Trp749Arg)PHEXPathogenicX2226606522266065TCcriteria provided, multiple submitters, no conflictsClinGen:CA412575565
copy number lossGRCh37/hg19 Xp22.11(chrX:22108547-22108615)x0PHEXLikely pathogenicX2210854722108615nanacriteria provided, single submitter-
single nucleotide variantNM_000444.6(PHEX):c.187+1G>APHEXPathogenicX2205665622056656GAcriteria provided, single submitterClinGen:CA412566068
single nucleotide variantNM_000444.6(PHEX):c.1899+1G>APHEXPathogenicX2223986122239861GAcriteria provided, multiple submitters, no conflictsClinGen:CA412573927
single nucleotide variantNM_000444.6(PHEX):c.436+1G>APHEXPathogenicX2209459322094593GAcriteria provided, multiple submitters, no conflictsClinGen:CA412571214
single nucleotide variantNM_000444.6(PHEX):c.663+1G>APHEXPathogenicX2209582122095821GAcriteria provided, multiple submitters, no conflictsClinGen:CA412571717
single nucleotide variantNM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys)PHEXPathogenic/Likely pathogenicX2211722722117227AGcriteria provided, multiple submitters, no conflictsClinGen:CA412572957
single nucleotide variantNM_000444.6(PHEX):c.1218T>A (p.Cys406Ter)PHEXPathogenicX2213262022132620TAcriteria provided, multiple submitters, no conflictsClinGen:CA412573392
copy number lossGRCh37/hg19 Xp22.11(chrX:22108547-22108570)x1PHEXLikely pathogenicX2210854722108570nanacriteria provided, single submitter-