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)
copy number lossGRCh38/hg38 17q11.2(chr17:31223174-31246335)x1NF1Pathogenic172955019229573353nanacriteria provided, single submitterdbVar:nssv577600,dbVar:nsv532110
single nucleotide variantNM_000267.3(NF1):c.1595T>C (p.Leu532Pro)NF1Pathogenic172954609029546090TCcriteria provided, single submitterUniProtKB (protein):P21359#VAR_032466,UniProtKB (variants):VAR_032466
single nucleotide variantNM_000267.3(NF1):c.1646T>C (p.Leu549Pro)NF1Pathogenic/Likely pathogenic172954887229548872TCcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P21359#VAR_021735,UniProtKB (variants):VAR_021735
single nucleotide variantNM_000267.3(NF1):c.1748A>G (p.Lys583Arg)NF1Pathogenic/Likely pathogenic172955048829550488AGcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P21359#VAR_021738,UniProtKB (variants):VAR_021738
single nucleotide variantNM_000267.3(NF1):c.1885G>A (p.Gly629Arg)NF1Pathogenic172955215229552152GAcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P21359#VAR_002653,UniProtKB (variants):VAR_002653
single nucleotide variantNM_000267.3(NF1):c.2084T>C (p.Leu695Pro)NF1Pathogenic172955353529553535TCcriteria provided, single submitterUniProtKB (protein):P21359#VAR_021740,UniProtKB (variants):VAR_021740
single nucleotide variantNM_000267.3(NF1):c.4255A>C (p.Lys1419Gln)NF1Likely pathogenic172958550629585506ACcriteria provided, single submitterUniProtKB (protein):P21359#VAR_010997,UniProtKB (variants):VAR_010997
single nucleotide variantNM_001042492.3(NF1):c.2288T>C (p.Leu763Pro)NF1Pathogenic/Likely pathogenic172955427229554272TCcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P21359#VAR_021741,UniProtKB (variants):VAR_021741
single nucleotide variantNM_000267.3(NF1):c.2330G>C (p.Trp777Ser)NF1Likely pathogenic172955454529554545GCcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P21359#VAR_021743,UniProtKB (variants):VAR_021743
single nucleotide variantNM_000267.3(NF1):c.2339C>A (p.Thr780Lys)NF1Pathogenic/Likely pathogenic172955455429554554CAcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P21359#VAR_021744,UniProtKB (variants):VAR_021744