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)
single nucleotide variantNM_000444.6(PHEX):c.2140C>T (p.Gln714Ter)PHEXLikely pathogenicX2226351922263519CTcriteria provided, single submitter-
single nucleotide variantNM_000444.6(PHEX):c.1875T>G (p.Tyr625Ter)PHEXPathogenic/Likely pathogenicX2223983622239836TGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000444.6(PHEX):c.1805G>A (p.Trp602Ter)PHEXPathogenicX2223976622239766GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000444.6(PHEX):c.*231A>GPHEXPathogenic/Likely pathogenicX2226630122266301AGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000444.6(PHEX):c.1033C>T (p.Gln345Ter)PHEXPathogenicX2211722322117223CTcriteria provided, single submitter-
single nucleotide variantNM_000444.6(PHEX):c.263G>A (p.Trp88Ter)PHEXPathogenicX2206524322065243GAcriteria provided, multiple submitters, no conflicts-
DeletionNM_000444.6(PHEX):c.15_16del (p.Gly6fs)PHEXPathogenicX2205113822051139CAGCcriteria provided, multiple submitters, no conflicts-
DeletionNM_000444.6(PHEX):c.2171_2172del (p.Asn723_Phe724insTer)PHEXLikely pathogenicX2226599022265991CTTCcriteria provided, single submitter-
single nucleotide variantNM_000444.6(PHEX):c.501G>A (p.Trp167Ter)PHEXPathogenicX2209565822095658GAcriteria provided, multiple submitters, no conflictsClinGen:CA412571357
copy number lossGRCh37/hg19 Xp22.11(chrX:22108547-22108570)x1PHEXLikely pathogenicX2210854722108570nanacriteria provided, single submitter-