Knowledge base for genomic medicine in Japanese
神経線維腫症II型
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNC_000022.11:g.(?_29673259)_(29673496_?)delNF2Pathogenic223006924830069485nanacriteria provided, single submitter-
DeletionNC_000022.11:g.(?_29603989)_(29681611_?)delNF2Pathogenic222999997830077600nanacriteria provided, single submitter-
DeletionNM_000268.4(NF2):c.517-92_568delNF2Pathogenic223005148530051628TTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAATcriteria provided, single submitter-
single nucleotide variantNM_000268.4(NF2):c.1446+1G>ANF2Likely pathogenic223007093130070931GAcriteria provided, single submitter-
single nucleotide variantNM_000268.4(NF2):c.516+1G>ANF2Pathogenic223005071530050715GAcriteria provided, single submitter-
DeletionNC_000022.11:g.(?_29603989)_(29604122_?)delNF2Pathogenic222999997830000111nanacriteria provided, single submitter-
DeletionNC_000022.11:g.(?_29636741)_(29639222_?)delNF2Pathogenic223003273030035211nanacriteria provided, single submitter-
single nucleotide variantNM_000268.4(NF2):c.1646T>A (p.Leu549Ter)NF2Pathogenic223007749930077499TAcriteria provided, single submitter-
single nucleotide variantNM_000268.4(NF2):c.1003G>T (p.Glu335Ter)NF2Pathogenic223006781830067818GTcriteria provided, single submitter-
single nucleotide variantNM_000268.4(NF2):c.658A>T (p.Asn220Tyr)NF2Pathogenic223005423630054236ATcriteria provided, multiple submitters, no conflicts-