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_206933.3(USH2A):c.11411del (p.Pro3804fs)USH2APathogenic1215916656215916656AGAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_206933.4(USH2A):c.1143+1G>AUSH2APathogenic1216498646216498646CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)USH2APathogenic/Likely pathogenic1215901484215901484CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_206933.4(USH2A):c.12067-1G>CUSH2APathogenic/Likely pathogenic1215853719215853719CGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_206933.4(USH2A):c.12067-2A>GUSH2APathogenic1215853720215853720TCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_206933.4(USH2A):c.12295-2A>GUSH2APathogenic/Likely pathogenic1215848960215848960TCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_206933.4(USH2A):c.1227G>C (p.Trp409Cys)USH2ALikely pathogenic1216497611216497611CGcriteria provided, single submitter-
single nucleotide variantNM_206933.4(USH2A):c.12295-3T>AUSH2ALikely pathogenic1215848961215848961ATreviewed by expert panel-
single nucleotide variantNM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter)USH2APathogenic1215848539215848539ACcriteria provided, single submitter-
single nucleotide variantNM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg)USH2ALikely pathogenic1215848514215848514CTcriteria provided, single submitter-