Knowledge base for genomic medicine in Japanese
神経線維腫症I型
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_001042492.3(NF1):c.4020del (p.Gln1341fs)NF1Pathogenic172957604629576046CTCcriteria provided, single submitter-
single nucleotide variantNM_001042492.3(NF1):c.4110+1G>TNF1Pathogenic/Likely pathogenic172957613829576138GTcriteria provided, multiple submitters, no conflicts-
DuplicationNM_001042492.3(NF1):c.4703dup (p.Phe1569fs)NF1Pathogenic172958885129588852CCAcriteria provided, single submitter-
DeletionNM_001042492.3(NF1):c.4749del (p.Glu1583fs)NF1Pathogenic172959227029592270GAGcriteria provided, single submitter-
DeletionNM_001042492.3(NF1):c.5461del (p.Val1821fs)NF1Pathogenic172965470929654709TGTcriteria provided, single submitter-
DeletionNM_001042492.3(NF1):c.5535del (p.Arg1846fs)NF1Pathogenic172965478229654782ATAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001042492.3(NF1):c.5540C>T (p.Pro1847Leu)NF1Pathogenic172965478829654788CTcriteria provided, single submitter-
DeletionNM_001042492.3(NF1):c.5723_5742del (p.Ile1908fs)NF1Pathogenic172965742629657445TATTGTCTCTATTAGTAAGACTcriteria provided, single submitter-
single nucleotide variantNM_001042492.3(NF1):c.6004C>T (p.Gln2002Ter)NF1Pathogenic172966204729662047CTcriteria provided, multiple submitters, no conflicts-
DuplicationNM_001042492.3(NF1):c.6722dup (p.Asn2241fs)NF1Pathogenic172966505829665059TTAcriteria provided, single submitter-