Knowledge base for genomic medicine in Japanese
網膜色素変性症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_182916.3(TRNT1):c.865del (p.Ser289fs)TRNT1Pathogenic331891923189192GTGcriteria provided, multiple submitters, no conflicts-
DeletionNM_001142800.2(EYS):c.9036del (p.Leu3013fs)EYSPathogenic66443089164430891GAGcriteria provided, multiple submitters, no conflicts-
DuplicationNM_001142800.2(EYS):c.6791dup (p.Pro2265fs)EYSPathogenic66470901064709011AAGcriteria provided, single submitter-
DeletionNM_001142800.2(EYS):c.6102del (p.Phe2034fs)EYSPathogenic66501695265016952TATcriteria provided, single submitter-
InsertionNM_001142800.2(EYS):c.4116_4117insGC (p.Ile1373fs)EYSPathogenic66530164365301644TTGCcriteria provided, single submitter-
single nucleotide variantNM_001142800.2(EYS):c.2380C>T (p.Arg794Ter)EYSPathogenic66565568765655687GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001142800.2(EYS):c.1426C>T (p.Gln476Ter)EYSPathogenic66606338466063384GAcriteria provided, single submitter-
DeletionNM_001142800.2(EYS):c.361del (p.Glu121fs)EYSPathogenic66620494366204943TCTcriteria provided, single submitter-
single nucleotide variantNM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter)HGSNATPathogenic84300213643002136TAcriteria provided, single submitter-
single nucleotide variantNM_152443.3(RDH12):c.481C>T (p.Arg161Trp)RDH12Pathogenic146819373068193730CTcriteria provided, single submitter-