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_017739.4(POMGNT1):c.10del (p.Trp4fs)POMGNT1Pathogenic14666348446663484CACcriteria provided, single submitter-
single nucleotide variantNM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)RPE65Pathogenic/Likely pathogenic16889719268897192CTcriteria provided, multiple submitters, no conflicts-
DuplicationNM_000329.3(RPE65):c.991_993dup (p.Trp331dup)RPE65Pathogenic16890462968904630TTCCAcriteria provided, single submitter-
single nucleotide variantNM_201548.5(CERKL):c.334C>T (p.Gln112Ter)CERKLPathogenic2182468711182468711GAcriteria provided, single submitter-
single nucleotide variantNM_201548.5(CERKL):c.2T>G (p.Met1Arg)CERKLPathogenic2182521732182521732ACcriteria provided, single submitter-
single nucleotide variantNM_201548.5(CERKL):c.2T>C (p.Met1Thr)CERKLPathogenic2182521732182521732AGcriteria provided, single submitter-
DeletionNM_001201543.2(FAM161A):c.336del (p.Lys112fs)FAM161APathogenic26206934362069343ATAcriteria provided, single submitter-
DeletionNM_174878.3(CLRN1):c.578del (p.Phe193fs)CLRN1Pathogenic3150645844150645844GAGcriteria provided, single submitter-
DuplicationNM_174878.3(CLRN1):c.121_136dup (p.Leu46fs)CLRN1Pathogenic3150690359150690360AAGCAGAGCTCCCGTTTTcriteria provided, single submitter-
DeletionNM_182916.3(TRNT1):c.324_330del (p.His108fs)TRNT1Pathogenic331791173179123GCACGGAAGcriteria provided, single submitter-