Knowledge base for genomic medicine in Japanese
低ホスファターゼ症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DuplicationNM_000478.6(ALPL):c.1182dup (p.Ile395fs)ALPLPathogenic/Likely pathogenic12190240921902410CCTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000478.6(ALPL):c.1142A>G (p.His381Arg)ALPLPathogenic/Likely pathogenic12190237021902370AGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000478.6(ALPL):c.1171C>T (p.Arg391Cys)ALPLPathogenic/Likely pathogenic12190239921902399CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000478.6(ALPL):c.1471G>A (p.Gly491Arg)ALPLPathogenic/Likely pathogenic12190403721904037GAcriteria provided, multiple submitters, no conflicts-
DuplicationNM_000478.6(ALPL):c.1017dup (p.His340fs)ALPLPathogenic/Likely pathogenic12190224221902243CCGcriteria provided, multiple submitters, no conflicts-
DeletionNM_000478.6(ALPL):c.1553_1568del (p.Tyr518fs)ALPLPathogenic/Likely pathogenic12190411721904132TCTACCCCCTGAGCGTCTcriteria provided, multiple submitters, no conflicts-
DeletionNM_000478.6(ALPL):c.392del (p.Ser131fs)ALPLPathogenic/Likely pathogenic12188969721889697AGAcriteria provided, multiple submitters, no conflicts-
DuplicationNM_000478.6(ALPL):c.225_228dup (p.Leu77fs)ALPLPathogenic/Likely pathogenic12188763121887632GGGTCAcriteria provided, multiple submitters, no conflicts-
DuplicationNM_001177520.3(ALPL):c.66+353dupALPLPathogenic/Likely pathogenic12188758821887589AAGcriteria provided, multiple submitters, no conflicts-
DuplicationNM_000478.6(ALPL):c.1171dup (p.Arg391fs)ALPLPathogenic/Likely pathogenic12190239321902394AACcriteria provided, multiple submitters, no conflictsClinGen:CA666743