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)
single nucleotide variantNM_000268.4(NF2):c.169C>T (p.Arg57Ter)NF2Pathogenic223003279430032794CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:607379.0004
short repeatNM_000268.4(NF2):c.285_287CTT[1] (p.Phe96del)NF2Likely pathogenic223003512330035125ACTTAcriteria provided, single submitterOMIM Allelic Variant:607379.0007
single nucleotide variantNM_000268.4(NF2):c.784C>T (p.Arg262Ter)NF2Pathogenic223005730230057302CTcriteria provided, single submitterOMIM Allelic Variant:607379.0009
single nucleotide variantNM_000268.4(NF2):c.1021C>T (p.Arg341Ter)NF2Pathogenic223006783630067836CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:607379.0011
single nucleotide variantNM_000268.4(NF2):c.1396C>T (p.Arg466Ter)NF2Pathogenic223007088030070880CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:607379.0014
single nucleotide variantNM_016418.5(NF2):c.810+1G>ANF2Pathogenic223005732930057329GAcriteria provided, single submitter-
single nucleotide variantNM_000268.4(NF2):c.1627A>T (p.Lys543Ter)NF2Pathogenic223007748030077480ATcriteria provided, single submitter-
deletionNC_000022.11:g.(?_29639090)_(29639212_?)delNF2Likely pathogenic223003507930035201nanacriteria provided, single submitter-
deletionNC_000022.11:g.(?_29668333)_(29671948_?)delNF2Likely pathogenic223006432230067937nanacriteria provided, single submitter-
single nucleotide variantNM_000268.4(NF2):c.432C>G (p.Tyr144Ter)NF2Pathogenic223003825930038259CGcriteria provided, single submitter-