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.382C>T (p.Gln128Ter)CTNSPathogenic/Likely pathogenic1735585673558567CTcriteria provided, multiple submitters, no conflictsClinGen:CA10590106
single nucleotide variantNM_004937.3(CTNS):c.544T>C (p.Trp182Arg)CTNSLikely pathogenic1735598633559863TCcriteria provided, single submitterClinGen:CA8291771,UniProtKB:O60931#VAR_010681
single nucleotide variantNM_004937.3(CTNS):c.922G>A (p.Gly308Arg)CTNSPathogenic1735632213563221GAcriteria provided, multiple submitters, no conflictsClinGen:CA8291955,UniProtKB:O60931#VAR_010692
DeletionNM_004937.3(CTNS):c.251del (p.Asn84fs)CTNSLikely pathogenic1735583153558315CACcriteria provided, single submitterClinGen:CA16041833
DeletionNM_004937.3(CTNS):c.519_520del (p.Tyr173_Ser174delinsTer)CTNSPathogenic1735598373559838TACTcriteria provided, multiple submitters, no conflictsClinGen:CA8291763
DuplicationNM_004937.3(CTNS):c.646dup (p.Thr216fs)CTNSPathogenic1735600533560054CCAcriteria provided, multiple submitters, no conflictsClinGen:CA16041835
single nucleotide variantNM_004937.3(CTNS):c.681+2T>CCTNSLikely pathogenic1735600913560091TCcriteria provided, single submitterClinGen:CA16041836
single nucleotide variantNM_004937.3(CTNS):c.682-1G>ACTNSLikely pathogenic1735612983561298GAcriteria provided, single submitterClinGen:CA16041837
single nucleotide variantNM_004937.3(CTNS):c.734G>A (p.Trp245Ter)CTNSLikely pathogenic1735613513561351GAcriteria provided, single submitterClinGen:CA16041838
single nucleotide variantNM_004937.3(CTNS):c.1102T>C (p.Ter368Gln)CTNSLikely pathogenic1735636613563661TCcriteria provided, single submitterClinGen:CA16041839