Knowledge base for genomic medicine in Japanese
DICER1症候群
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_177438.3(DICER1):c.100C>T (p.Gln34Ter)DICER1Pathogenic149559969695599696GAcriteria provided, single submitterClinGen:CA390890474
single nucleotide variantNM_177438.3(DICER1):c.238G>T (p.Glu80Ter)DICER1Likely pathogenic149559892195598921CAreviewed by expert panel-
DeletionNM_177438.3(DICER1):c.256del (p.Arg86fs)DICER1Pathogenic149559890395598903CTCcriteria provided, multiple submitters, no conflictsClinGen:CA658658273
DuplicationNM_177438.3(DICER1):c.282_283dup (p.Arg95fs)DICER1Pathogenic149559887595598876CCTTcriteria provided, single submitterClinGen:CA658658272
single nucleotide variantNM_177438.3(DICER1):c.307+1G>CDICER1Likely pathogenic149559885195598851CGcriteria provided, single submitter-
DuplicationNM_177438.3(DICER1):c.459dup (p.Val154fs)DICER1Pathogenic149559650895596509CCAcriteria provided, multiple submitters, no conflictsClinGen:CA658658271
single nucleotide variantNM_177438.3(DICER1):c.489C>G (p.Tyr163Ter)DICER1Pathogenic149559647995596479GCcriteria provided, single submitterClinGen:CA349806
DeletionNM_177438.3(DICER1):c.535del (p.Ala180fs)DICER1Pathogenic149559643395596433AGAcriteria provided, multiple submitters, no conflictsClinGen:CA658658270
single nucleotide variantNM_177438.3(DICER1):c.559C>T (p.Arg187Ter)DICER1Pathogenic149559640995596409GAcriteria provided, multiple submitters, no conflictsClinGen:CA350609
single nucleotide variantNM_177438.3(DICER1):c.629T>G (p.Leu210Ter)DICER1Pathogenic149559591495595914ACcriteria provided, multiple submitters, no conflictsClinGen:CA10586467