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.1174-2A>GPHEXPathogenicX2213257422132574AGcriteria provided, multiple submitters, no conflictsClinGen:CA16621321
DeletionNM_000444.6(PHEX):c.1202del (p.Pro401fs)PHEXPathogenicX2213260322132603GCGcriteria provided, multiple submitters, no conflictsClinGen:CA16621322
single nucleotide variantNM_000444.6(PHEX):c.1482+1G>APHEXPathogenic/Likely pathogenicX2218650722186507GAcriteria provided, multiple submitters, no conflictsClinGen:CA16621324
DeletionNM_000444.6(PHEX):c.1525del (p.Thr509fs)PHEXPathogenicX2219643022196430CACcriteria provided, multiple submitters, no conflictsClinGen:CA16621325
single nucleotide variantNM_000444.6(PHEX):c.1586+1G>TPHEXPathogenicX2219649422196494GTcriteria provided, single submitterClinGen:CA16621326
DuplicationNM_000444.6(PHEX):c.1593dup (p.Thr532fs)PHEXPathogenicX2220856422208565GGTcriteria provided, single submitterClinGen:CA16621327
single nucleotide variantNM_000444.6(PHEX):c.1658G>A (p.Gly553Glu)PHEXPathogenic/Likely pathogenicX2223103322231033GAcriteria provided, multiple submitters, no conflictsClinGen:CA16621328
single nucleotide variantNM_000444.6(PHEX):c.1660G>T (p.Glu554Ter)PHEXPathogenicX2223103522231035GTcriteria provided, single submitterClinGen:CA16621329
DuplicationNM_000444.6(PHEX):c.1706dup (p.Ser570fs)PHEXPathogenicX2223715722237158CCTcriteria provided, single submitterClinGen:CA16621330
single nucleotide variantNM_000444.6(PHEX):c.1714G>A (p.Gly572Ser)PHEXPathogenic/Likely pathogenicX2223716622237166GAcriteria provided, multiple submitters, no conflictsClinGen:CA16621331