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)
single nucleotide variantNM_000548.5(TSC2):c.225+1G>ATSC2Pathogenic/Likely pathogenic1621004882100488GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000368.5(TSC1):c.2338A>T (p.Arg780Ter)TSC1Pathogenic/Likely pathogenic9135778045135778045TAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000368.5(TSC1):c.737+2T>CTSC1Pathogenic/Likely pathogenic9135796748135796748AGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000368.5(TSC1):c.2625+367A>GTSC1Pathogenic/Likely pathogenic9135775735135775735TCcriteria provided, multiple submitters, no conflicts-
DeletionNM_000548.5(TSC2):c.2772del (p.Phe924fs)TSC2Pathogenic/Likely pathogenic1621265182126518CTCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000368.5(TSC1):c.982C>T (p.Gln328Ter)TSC1Pathogenic/Likely pathogenic9135786887135786887GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln)TSC2Pathogenic/Likely pathogenic1621378982137898CAcriteria provided, multiple submitters, no conflictsClinGen:CA394311256
single nucleotide variantNM_000548.5(TSC2):c.5068+2T>CTSC2Pathogenic/Likely pathogenic1621379442137944TCcriteria provided, multiple submitters, no conflictsClinGen:CA394311751
single nucleotide variantNM_000548.5(TSC2):c.4990-1G>ATSC2Pathogenic/Likely pathogenic1621378632137863GAcriteria provided, multiple submitters, no conflictsClinGen:CA394310850
single nucleotide variantNM_000548.5(TSC2):c.4569+1G>ATSC2Pathogenic/Likely pathogenic1621350282135028GAcriteria provided, multiple submitters, no conflictsClinGen:CA394303133