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_000368.4(TSC1):c.1029+1G>ATSC1Pathogenic9135786839135786839CTcriteria provided, single submitterTuberous sclerosis database (TSC1):TSC1_00062
deletionNM_000368.4(TSC1):c.1152del (p.Gly385fs)TSC1Pathogenic9135786069135786069CTCcriteria provided, single submitterTuberous sclerosis database (TSC1):TSC1_00296
deletionNM_000368.5(TSC1):c.1257del (p.Arg420fs)TSC1Pathogenic9135785964135785964TGTcriteria provided, single submitterTuberous sclerosis database (TSC1):TSC1_00079
short repeatNM_000368.4(TSC1):c.1271_1272delGA (p.Arg424Asnfs)TSC1Pathogenic9135782749135782750TTCTcriteria provided, single submitterTuberous sclerosis database (TSC1):TSC1_00337,Tuberous sclerosis database (TSC2):TSC1_00337
deletionNM_000368.5(TSC1):c.1431_1434del (p.Glu478fs)TSC1Pathogenic9135782122135782125CTTCTCcriteria provided, multiple submitters, no conflictsTuberous sclerosis database (TSC1):TSC1_00088
single nucleotide variantNM_000368.4(TSC1):c.1439-2A>GTSC1Likely pathogenic9135781528135781528TCcriteria provided, single submitterTuberous sclerosis database (TSC1):TSC1_00092
single nucleotide variantNM_000368.5(TSC1):c.1498C>TTSC1Pathogenic9135781467135781467GAcriteria provided, multiple submitters, no conflictsTuberous sclerosis database (TSC1):TSC1_00094
single nucleotide variantNM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)TSC1Pathogenic9135781440135781440GAcriteria provided, multiple submitters, no conflictsTuberous sclerosis database (TSC1):TSC1_00096
single nucleotide variantNM_000368.4(TSC1):c.1579C>T (p.Gln527Ter)TSC1Pathogenic/Likely pathogenic9135781386135781386GAcriteria provided, multiple submitters, no conflictsTuberous sclerosis database (TSC1):TSC1_00422
deletionNM_000368.5(TSC1):c.1580_1581del (p.Gln527fs)TSC1Pathogenic9135781384135781385CCTCcriteria provided, multiple submitters, no conflictsTuberous sclerosis database (TSC1):TSC1_00099