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_002880.4(RAF1):c.785A>G (p.Asn262Ser)RAF1Likely pathogenic31264568412645684TCcriteria provided, single submitter-
IndelNM_004333.6(BRAF):c.1441_1442delinsAA (p.Ala481Lys)BRAFLikely pathogenic7140477866140477867GCTTcriteria provided, single submitter-
single nucleotide variantNM_002834.5(PTPN11):c.853T>A (p.Phe285Ile)PTPN11Pathogenic12112910844112910844TAcriteria provided, single submitter-
single nucleotide variantNM_006767.4(LZTR1):c.730T>C (p.Ser244Pro)LZTR1Likely pathogenic222134475321344753TCcriteria provided, single submitter-
single nucleotide variantNM_033360.4(KRAS):c.189G>C (p.Glu63Asp)KRASLikely pathogenic122538026925380269CGcriteria provided, single submitter-
single nucleotide variantNM_004985.5(KRAS):c.451-5642A>TKRASLikely pathogenic122536848725368487TAcriteria provided, single submitter-
single nucleotide variantNM_002880.4(RAF1):c.779C>A (p.Thr260Lys)RAF1Pathogenic/Likely pathogenic31264569012645690GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004333.6(BRAF):c.1096G>C (p.Ala366Pro)BRAFLikely pathogenic7140494152140494152CGcriteria provided, single submitter-
single nucleotide variantNM_004333.6(BRAF):c.1592G>C (p.Trp531Ser)BRAFPathogenic7140476814140476814CGcriteria provided, single submitter-
IndelNM_005633.4(SOS1):c.1293_1294delinsGA (p.Trp432Arg)SOS1Likely pathogenic23925027539250276AATCcriteria provided, single submitter-