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_174878.3(CLRN1):c.301_305del (p.Val101fs)CLRN1Pathogenic/Likely pathogenic3150659497150659501AATGACAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)CLRN1Pathogenic/Likely pathogenic3150659434150659434GTcriteria provided, multiple submitters, no conflicts-
deletionNM_206933.3(USH2A):c.10190_10191del (p.Lys3397fs)USH2APathogenic1215960208215960209CTTCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_206933.3(USH2A):c.1036A>C (p.Asn346His)USH2APathogenic1216498754216498754TGreviewed by expert panelUniProtKB (protein):O75445#VAR_025766
single nucleotide variantNM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)USH2APathogenic/Likely pathogenic1215956215215956215GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)USH2APathogenic/Likely pathogenic1215956104215956104AGcriteria provided, multiple submitters, no conflictsUniProtKB (protein):O75445#VAR_054603
single nucleotide variantNM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)USH2APathogenic/Likely pathogenic1215955412215955412GAcriteria provided, multiple submitters, no conflictsUniProtKB (protein):O75445#VAR_054604
single nucleotide variantNM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr)USH2APathogenic/Likely pathogenic1215955400215955400CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)USH2APathogenic/Likely pathogenic1215953365215953365GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_206933.4(USH2A):c.11231+1G>TUSH2ALikely pathogenic1215933001215933001CAcriteria provided, single submitter-