Knowledge base for genomic medicine in Japanese
シスチノーシス
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.682-1G>TCTNSPathogenic/Likely pathogenic1735612983561298GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004937.3(CTNS):c.422C>T (p.Ser141Phe)CTNSPathogenic/Likely pathogenic1735586073558607CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004937.3(CTNS):c.225+1G>ACTNSPathogenic/Likely pathogenic1735522263552226GAcriteria provided, multiple submitters, no conflicts-
DeletionNM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer)CTNSPathogenic/Likely pathogenic1735435373543537TCTcriteria 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
single nucleotide variantNM_004937.3(CTNS):c.853-2A>GCTNSPathogenic/Likely pathogenic1735631503563150AGcriteria provided, multiple submitters, no conflictsClinGen:CA397692891
single nucleotide variantNM_004937.3(CTNS):c.382C>T (p.Gln128Ter)CTNSPathogenic/Likely pathogenic1735585673558567CTcriteria provided, multiple submitters, no conflictsClinGen:CA10590106
DuplicationNM_004937.3(CTNS):c.926dup (p.Ser310fs)CTNSPathogenic/Likely pathogenic1735632203563221CCGcriteria provided, multiple submitters, no conflictsClinGen:CA278465
DeletionNM_004937.3(CTNS):c.561+1delCTNSPathogenic/Likely pathogenic1735598803559880AGAcriteria provided, multiple submitters, no conflictsClinGen:CA278484
DeletionNM_004937.3(CTNS):c.559_561+24delCTNSPathogenic/Likely pathogenic1735598673559893GTGCCCTACATCAAGGTACGGCCTTGCCGcriteria provided, multiple submitters, no conflictsClinGen:CA342080