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_007373.4(SHOC2):c.4A>G (p.Ser2Gly)SHOC2Pathogenic10112724120112724120AGreviewed by expert panelClinGen:CA118524,UniProtKB:Q9UQ13#VAR_060199,OMIM:602775.0001
single nucleotide variantNM_012250.6(RRAS2):c.215A>T (p.Gln72Leu)RRAS2Pathogenic111431639014316390TAcriteria provided, multiple submitters, no conflictsClinGen:CA120437,OMIM:600098.0001
single nucleotide variantNM_004985.5(KRAS):c.34G>C (p.Gly12Arg)KRASPathogenic/Likely pathogenic122539828525398285CGcriteria provided, multiple submitters, no conflictsClinGen:CA122531,UniProtKB:P01116#VAR_016027,OMIM:190070.0002
single nucleotide variantNM_004985.5(KRAS):c.35G>A (p.Gly12Asp)KRASPathogenic122539828425398284CTcriteria provided, multiple submitters, no conflictsClinGen:CA122538,UniProtKB:P01116#VAR_016026,OMIM:190070.0005,OMIM:190070.0025
single nucleotide variantNM_004985.5(KRAS):c.35G>T (p.Gly12Val)KRASPathogenic122539828425398284CAcriteria provided, multiple submitters, no conflictsCOSMIC:520,ClinGen:CA122540,UniProtKB:P01116#VAR_006840,OMIM:190070.0006,OMIM:190070.0026
single nucleotide variantNM_004985.5(KRAS):c.34G>A (p.Gly12Ser)KRASPathogenic122539828525398285CTcriteria provided, multiple submitters, no conflictsClinGen:CA135565,UniProtKB:P01116#VAR_016028,OMIM:190070.0007
single nucleotide variantNM_004985.5(KRAS):c.178G>C (p.Gly60Arg)KRASPathogenic122538028025380280CGreviewed by expert panelClinGen:CA273416,UniProtKB:P01116#VAR_026112,OMIM:190070.0009
single nucleotide variantNM_004985.5(KRAS):c.458A>T (p.Asp153Val)KRASPathogenic122536283825362838TAreviewed by expert panelClinGen:CA256478,OMIM:190070.0010,OMIM:190070.0015
single nucleotide variantNM_004985.5(KRAS):c.173C>T (p.Thr58Ile)KRASPathogenic122538028525380285GAreviewed by expert panelClinGen:CA256480,UniProtKB:P01116#VAR_026111,OMIM:190070.0011
single nucleotide variantNM_004985.5(KRAS):c.40G>A (p.Val14Ile)KRASPathogenic122539827925398279CTreviewed by expert panelClinGen:CA156358,UniProtKB:P01116#VAR_026109,OMIM:190070.0012