Knowledge base for genomic medicine in Japanese
基底細胞母斑症候群
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000264.5(PTCH1):c.741C>A (p.Tyr247Ter)PTCH1Pathogenic99824423698244236GTcriteria provided, multiple submitters, no conflictsClinGen:CA16612940
DuplicationNM_016169.4(SUFU):c.171dup (p.Val58fs)SUFUPathogenic10104264079104264080TTCcriteria provided, single submitterClinGen:CA16612978
single nucleotide variantNM_016169.4(SUFU):c.436C>T (p.Arg146Ter)SUFUPathogenic10104309845104309845CTcriteria provided, multiple submitters, no conflictsClinGen:CA16612979
IndelNM_000264.5(PTCH1):c.2860_2869delinsTAGT (p.Asp954_Pro957delinsTer)PTCH1Pathogenic99822190098221909GCATGTAGTCACTAcriteria provided, single submitterClinGen:CA16618902
single nucleotide variantNM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter)PTCH1Pathogenic/Likely pathogenic99822193698221936GAcriteria provided, multiple submitters, no conflictsClinGen:CA16618903
single nucleotide variantNM_000264.5(PTCH1):c.2701C>T (p.Gln901Ter)PTCH1Pathogenic99822414098224140GAcriteria provided, multiple submitters, no conflictsClinGen:CA16618904
DeletionNM_000264.5(PTCH1):c.2072_2073del (p.Thr691fs)PTCH1Pathogenic99823121098231211CGGCcriteria provided, single submitterClinGen:CA16618905
DuplicationNM_000264.5(PTCH1):c.1615dup (p.Glu539fs)PTCH1Pathogenic99823842898238429TTCcriteria provided, single submitterClinGen:CA16618907
single nucleotide variantNM_000264.5(PTCH1):c.1603-2A>GPTCH1Pathogenic99823844398238443TCcriteria provided, multiple submitters, no conflictsClinGen:CA16618908
single nucleotide variantNM_000264.5(PTCH1):c.1348-2A>GPTCH1Pathogenic99823998698239986TCcriteria provided, multiple submitters, no conflictsClinGen:CA16618909