Knowledge base for genomic medicine in Japanese
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小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_004937.3(CTNS):c.1102T>C (p.Ter368Gln)CTNSLikely pathogenic1735636613563661TCcriteria provided, single submitterClinGen:CA16041839
single nucleotide variantNM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)CTNSPathogenic1735635743563574GAcriteria provided, multiple submitters, no conflictsClinGen:CA278067,UniProtKB:O60931#VAR_010695,OMIM:606272.0015
DuplicationNM_004937.3(CTNS):c.971-1dupCTNSLikely pathogenic1735635283563529AAGcriteria provided, single submitter-
single nucleotide variantNM_004937.3(CTNS):c.971-12G>ACTNSPathogenic1735635183563518GAcriteria provided, multiple submitters, no conflictsClinGen:CA8291997
single nucleotide variantNM_004937.3(CTNS):c.969C>G (p.Asn323Lys)CTNSPathogenic1735632683563268CGcriteria provided, single submitterClinGen:CA253164,UniProtKB:O60931#VAR_010288,OMIM:606272.0016
single nucleotide variantNM_004937.3(CTNS):c.944A>G (p.Gln315Arg)CTNSLikely pathogenic1735632433563243AGcriteria provided, single submitterClinGen:CA16620398
single nucleotide variantNM_004937.3(CTNS):c.922G>A (p.Gly308Arg)CTNSPathogenic1735632213563221GAcriteria provided, multiple submitters, no conflictsClinGen:CA8291955,UniProtKB:O60931#VAR_010692
DuplicationNM_004937.3(CTNS):c.926dup (p.Ser310fs)CTNSPathogenic/Likely pathogenic1735632203563221CCGcriteria provided, multiple submitters, no conflictsClinGen:CA278465
single nucleotide variantNM_004937.3(CTNS):c.890G>A (p.Trp297Ter)CTNSPathogenic1735631893563189GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004937.3(CTNS):c.870C>G (p.Tyr290Ter)CTNSPathogenic/Likely pathogenic1735631693563169CGcriteria provided, multiple submitters, no conflictsClinGen:CA397692982