Knowledge base for genomic medicine in Japanese
ヌーナン症候群
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe)MAP2K1Likely pathogenic156672740866727408CTcriteria provided, single submitter-
single nucleotide variantNM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg)MAP2K1Likely pathogenic156672755966727559TGreviewed by expert panel-
single nucleotide variantNM_002834.5(PTPN11):c.209A>G (p.Lys70Arg)PTPN11Pathogenic12112888193112888193AGreviewed by expert panel-
indelNM_002834.5(PTPN11):c.217_218delinsCT (p.Thr73Leu)PTPN11Pathogenic12112888201112888202ACCTcriteria provided, single submitter-
single nucleotide variantNM_002834.5(PTPN11):c.235C>A (p.Gln79Lys)PTPN11Likely pathogenic12112888219112888219CAcriteria provided, single submitter-
single nucleotide variantNM_002834.5(PTPN11):c.774G>T (p.Glu258Asp)PTPN11Pathogenic/Likely pathogenic12112910765112910765GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)PTPN11Likely pathogenic12112910793112910793GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_002834.5(PTPN11):c.855T>G (p.Phe285Leu)PTPN11Pathogenic12112915456112915456TGcriteria provided, multiple submitters, no conflictsUniProtKB (protein):Q06124#VAR_015617
single nucleotide variantNM_001354689.3(RAF1):c.766A>G (p.Arg256Gly)RAF1Pathogenic/Likely pathogenic31264570312645703TCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001354689.3(RAF1):c.768G>C (p.Arg256Ser)RAF1Likely pathogenic31264570112645701CGcriteria provided, single submitterUniProtKB (protein):P04049#VAR_037807