Knowledge base for genomic medicine in Japanese
結節性硬化症
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNC_000016.9:g.(?_624055)_(2115656_?)delTSC2Pathogenic166240552115656nanacriteria provided, single submitter-
single nucleotide variantNM_000548.5(TSC2):c.2356-1G>CTSC2Pathogenic1621242002124200GCcriteria provided, single submitter-
DeletionNC_000016.10:g.(?_2081575)_(2104662_?)delTSC2Pathogenic1621315762154663nanacriteria provided, single submitter-
single nucleotide variantNM_000548.5(TSC2):c.5068+1G>TTSC2Pathogenic1621379432137943GTcriteria provided, single submitter-
single nucleotide variantNM_000548.5(TSC2):c.1257+1G>CTSC2Pathogenic1621120102112010GCcriteria provided, single submitter-
DeletionNM_000548.5(TSC2):c.976-207_1191delTSC2Likely pathogenic1621104632111942GGGGTGGGGCCCGTCTGGGTCCTGACTGTGCTGGAGCATGTAGAAACCCCTCCTGGGCGCCCCACCTGCTGTTTCTGCGGCCCCTGATAAACGTGTGGTGGGCACTGCGCGCTCAGGCGTGCTACTCTCGGTCCCAAGGGTGACTGGGAGGGCGTCCCACAGCAAGCAAGCAGCTCTGACCCTGTGTGCTGGCCGGGCTCGTGTTCCAGGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAGGTGGGGTGGGGGCAGGAGCTCCGGGGAGCACCGGGAACCCAGACAGGCAGGCTCGGCCCACTCAGAAGATGGTACCTTGGGCCCCATCTCTGGGGGTCCCGCAGAGACTGCCAGAACCGTGTTCTCTGGTGATTCGCAGTGGCGCTCATCCACCTTCCACCGGAGACAGGTCTGATTTTTCCAGACGTGGTGCATCGTTTAGGCCCCAGACAGGAATATGCAGTAGGTGAGCCGGGGCTGGGCCAGTGCTGTCCACAGTCCGCAGAGTGACCTGCAGGCCGCCTTCGTGGCCTGAGTGGGCCCCGGCACAGTTCCCAGAGGGATGCCAGTGTGGCTTCCGCATGACTTTGGAGGACCGCATTAGTCGAGTCTGTTAACCACAGCTTTAAGGAGGACTCCACGGCCACACGGGCTCATCAGCATAGGGGCCCTGGGGAGGCGAGGCTAGTATCCAGCAGCCTCAGGGCTGTGCCTTTTCCTGGAGCCTGGGGCGGGTGATGTACAGGAGGCCAGGCAGCAGAAGGGAGGCCGGGACTTCGCCGGGACTTAGCAGGGACTGAAGTCCTCTCAGAGCCTGTCGCTGGGCCAGAGCATTGCCCCCGACCGCTGGTGGCAGTGGCAGAGGTCATAGCCTGGGGCTTCTAAAAGAGGCTGGACCTGGGAGAGGCAAGAAAGGCTTGTAGTTGTGGCTACTCTTGGCCCTCCTGCCCGAGCTTCCTTCTTGGCCCAGCTGCATGGGCACAGCCAAGATTCCTTGGGGGGTGGGGTACGGGCAGGAACAGCAGCTGCCATCACAGCCACTGTGGCCCCTTGAGAGGATCTGGGGGGTGTCCTGGGCCACGTGGGTCAGGGTGGCCCCTGGAGAGGATCTGGGGGTGTCTCAACCCATGAGGCCCGGAGCGGCCTCAGAGGGCTGGGGGCGTCTGTCCCCATGCGGCCCAGAGCGGCCTGAGAGGGCTGAGGGTGTCTCCATGCGGTGGGTGTGTAGCGAGGCCTCTGGTGCCAAGTCCATGTGGGGAGTGGAAGTCAGCCTGTGTCATCGTGCCTGGTACTGCAGACCTTGGACAGCCCGGAGCTCAGGACCATCGTCCATGACCTGTTGACCACGGTGGAGGAGCTGTGTGACCAGcriteria provided, single submitter-
DeletionNC_000016.10:g.(?_2053322)_(2057459_?)delTSC2Pathogenic1621033232107460nanacriteria provided, single submitter-
DeletionNC_000016.10:g.(?_2050390)_(2050496_?)delTSC2Pathogenic1621003912100497nanacriteria provided, single submitter-
DeletionNC_000016.10:g.(?_2048596)_(2119398_?)delTSC2Pathogenic1620985972169399nanacriteria provided, single submitter-
DeletionNC_000016.10:g.(?_2048596)_(2074415_?)delTSC2Pathogenic1620985972124416nanacriteria provided, single submitter-