Knowledge base for genomic medicine in Japanese
神経線維腫症II型
小児・神経疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNC_000022.11:g.(?_29668327)_(29678329_?)delNF2Pathogenic223006431630074318nanacriteria provided, single submitter-
single nucleotide variantNM_000268.4(NF2):c.798C>G (p.Tyr266Ter)NF2Pathogenic223005731630057316CGcriteria provided, single submitterClinGen:CA411144163
DeletionNM_000268.4(NF2):c.970del (p.Gln324fs)NF2Pathogenic223006440430064404GCGcriteria provided, single submitterClinGen:CA658799533
DeletionNM_000268.4(NF2):c.563_564del (p.Ile188fs)NF2Pathogenic223005162930051630ATTAcriteria provided, single submitterClinGen:CA645601020
IndelNM_000268.4(NF2):c.58_61delinsGT (p.Lys20fs)NF2Likely pathogenic223000004530000048AAGAGTcriteria provided, single submitter-
DeletionNM_000268.4(NF2):c.465del (p.Ser156fs)NF2Likely pathogenic223005066030050660ACAcriteria provided, single submitter-
DeletionNM_000268.4(NF2):c.1447-2delNF2Pathogenic223007418330074183CACcriteria provided, single submitter-
DuplicationNM_000268.4(NF2):c.1507dup (p.Asp503fs)NF2Likely pathogenic223007424430074245TTGcriteria provided, single submitter-
single nucleotide variantNM_000268.4(NF2):c.1737+2T>ANF2Likely pathogenic223007759230077592TAcriteria provided, single submitter-
single nucleotide variantNM_000268.4(NF2):c.516+2T>GNF2Pathogenic223005071630050716TGcriteria provided, single submitter-