Knowledge base for genomic medicine in Japanese
常染色体優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_020638.3(FGF23):c.527G>A (p.Arg176Gln)FGF23Pathogenic1244797384479738CTcriteria provided, single submitterClinGen:CA117217,UniProtKB:Q9GZV9#VAR_010717,OMIM:605380.0001
single nucleotide variantNM_020638.3(FGF23):c.535C>T (p.Arg179Trp)FGF23Pathogenic/Likely pathogenic1244797304479730GAcriteria provided, multiple submitters, no conflictsClinGen:CA117218,UniProtKB:Q9GZV9#VAR_010718,OMIM:605380.0002
single nucleotide variantNM_020638.3(FGF23):c.162G>C (p.Gln54His)FGF23Likely pathogenic1244885874488587CGcriteria provided, single submitterClinGen:CA213692
single nucleotide variantNM_020638.3(FGF23):c.536G>A (p.Arg179Gln)FGF23Pathogenic1244797294479729CTcriteria provided, multiple submitters, no conflictsClinGen:CA213694,UniProtKB:Q9GZV9#VAR_010719
single nucleotide variantNM_020638.3(FGF23):c.260G>A (p.Gly87Asp)FGF23Likely pathogenic1244818154481815CTcriteria provided, single submitterClinGen:CA278961
single nucleotide variantNM_020638.3(FGF23):c.385T>C (p.Ser129Pro)FGF23Pathogenic/Likely pathogenic1244798804479880AGcriteria provided, multiple submitters, no conflictsClinGen:CA383416399
single nucleotide variantNM_020638.3(FGF23):c.367G>T (p.Gly123Trp)FGF23Pathogenic1244798984479898CAcriteria provided, single submitterClinGen:CA383416436