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)
IndelNM_000368.5(TSC1):c.24_42delinsCAA (p.Glu9fs)TSC1Pathogenic9135804218135804236CAGCATGGCAAGAAGCTCCTTGcriteria provided, single submitterClinGen:CA658657932
DuplicationNM_000368.5(TSC1):c.74dup (p.Thr26fs)TSC1Pathogenic9135804185135804186CCAcriteria provided, single submitterClinGen:CA10603113
DuplicationNM_000368.5(TSC1):c.86_90dup (p.Glu31fs)TSC1Pathogenic9135804169135804170CCTTTAAcriteria provided, single submitter-
single nucleotide variantNM_000368.5(TSC1):c.106+2T>CTSC1Likely pathogenic9135804152135804152AGcriteria provided, single submitterClinGen:CA375375246
single nucleotide variantNM_000368.5(TSC1):c.107-1G>ATSC1Pathogenic9135802692135802692CTcriteria provided, multiple submitters, no conflictsClinGen:CA16618780
DeletionNM_000368.5(TSC1):c.146del (p.Tyr49fs)TSC1Pathogenic9135802652135802652GTGcriteria provided, single submitterClinGen:CA004893,Tuberous sclerosis database (TSC1):TSC1_00649
single nucleotide variantNM_000368.5(TSC1):c.163C>T (p.Gln55Ter)TSC1Pathogenic9135802635135802635GAcriteria provided, single submitterClinGen:CA005119,Tuberous sclerosis database (TSC1):TSC1_00311
single nucleotide variantNM_000368.5(TSC1):c.182T>G (p.Leu61Arg)TSC1Likely pathogenic9135802616135802616ACcriteria provided, single submitterClinGen:CA005458,UniProtKB:Q92574#VAR_070636,Tuberous sclerosis database (TSC1):TSC1_00494
single nucleotide variantNM_000368.5(TSC1):c.182T>C (p.Leu61Pro)TSC1Pathogenic9135802616135802616AGcriteria provided, multiple submitters, no conflictsClinGen:CA005453,Tuberous sclerosis database (TSC1):TSC1_00007
single nucleotide variantNM_000368.5(TSC1):c.211-7T>GTSC1Likely pathogenic9135801133135801133ACcriteria provided, single submitterClinGen:CA658657931