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.436+6T>CPHEXPathogenicX2209459822094598TCcriteria provided, single submitterClinGen:CA645509372,LOVD 3:PHEX_000038,OMIM:300550.0011
single nucleotide variantNM_000444.6(PHEX):c.467T>C (p.Leu156Pro)PHEXPathogenicX2209562422095624TCcriteria provided, single submitterClinGen:CA412571292
single nucleotide variantNM_000444.6(PHEX):c.591A>G (p.Gln197=)PHEXPathogenic/Likely pathogenicX2209574822095748AGcriteria provided, multiple submitters, no conflictsClinGen:CA515429669
single nucleotide variantNM_000444.6(PHEX):c.621T>G (p.Tyr207Ter)PHEXPathogenicX2209577822095778TGcriteria provided, multiple submitters, no conflictsClinGen:CA412571620
single nucleotide variantNM_000444.6(PHEX):c.679C>A (p.Leu227Ile)PHEXPathogenicX2210856222108562CAcriteria provided, single submitterClinGen:CA412572024
DeletionNM_000444.6(PHEX):c.704del (p.Tyr235fs)PHEXPathogenicX2210858722108587TATcriteria provided, single submitterClinGen:CA645509374
single nucleotide variantNM_000444.6(PHEX):c.707T>C (p.Leu236Pro)PHEXPathogenicX2210859022108590TCcriteria provided, single submitterClinGen:CA412572084
single nucleotide variantNM_000444.6(PHEX):c.732+5G>CPHEXPathogenicX2210862022108620GCcriteria provided, single submitterClinGen:CA645509376
single nucleotide variantNM_000444.6(PHEX):c.832G>T (p.Glu278Ter)PHEXPathogenicX2211220022112200GTcriteria provided, single submitterClinGen:CA412572474
single nucleotide variantNM_000444.6(PHEX):c.933+1G>TPHEXPathogenicX2211515722115157GTcriteria provided, multiple submitters, no conflictsClinGen:CA412572721