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.871C>T (p.Arg291Ter)PHEXPathogenicX2211509422115094CTcriteria provided, multiple submitters, no conflictsClinGen:CA16043251
single nucleotide variantNM_000444.6(PHEX):c.1173+2T>CPHEXPathogenicX2212968022129680TCcriteria provided, multiple submitters, no conflictsClinGen:CA16043252
single nucleotide variantNM_000444.6(PHEX):c.1586+6T>GPHEXLikely pathogenicX2219649922196499TGcriteria provided, single submitterClinGen:CA16043257
single nucleotide variantNM_000444.6(PHEX):c.1700G>C (p.Arg567Pro)PHEXPathogenic/Likely pathogenicX2223107522231075GCcriteria provided, multiple submitters, no conflictsClinGen:CA16043260
single nucleotide variantNM_000444.6(PHEX):c.1715G>T (p.Gly572Val)PHEXPathogenic/Likely pathogenicX2223716722237167GTcriteria provided, multiple submitters, no conflictsClinGen:CA16043263
single nucleotide variantNM_000444.6(PHEX):c.436+1G>CPHEXLikely pathogenicX2209459322094593GCcriteria provided, single submitterClinGen:CA16043304
single nucleotide variantNM_000444.6(PHEX):c.503C>T (p.Pro168Leu)PHEXPathogenicX2209566022095660CTcriteria provided, multiple submitters, no conflictsClinGen:CA16043306
DeletionNM_000444.6(PHEX):c.883del (p.Ala295fs)PHEXPathogenicX2211510522115105AGAcriteria provided, single submitterClinGen:CA16043307
DuplicationNM_000444.6(PHEX):c.1046dup (p.Asp349fs)PHEXPathogenicX2211723522117236GGAcriteria provided, single submitterClinGen:CA16043308
single nucleotide variantNM_000444.6(PHEX):c.1715G>A (p.Gly572Asp)PHEXPathogenic/Likely pathogenicX2223716722237167GAcriteria provided, multiple submitters, no conflictsClinGen:CA16043311