Knowledge base for genomic medicine in Japanese
ヌーナン症候群
小児・神経疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_004985.5(KRAS):c.101C>G (p.Pro34Arg)KRASPathogenic/Likely pathogenic122539821825398218GCcriteria provided, multiple submitters, no conflictsClinGen:CA280040,UniProtKB:P01116#VAR_026110,OMIM:190070.0013
single nucleotide variantNM_004985.5(KRAS):c.37G>C (p.Gly13Arg)KRASPathogenic122539828225398282CGcriteria provided, single submitterClinGen:CA122542,UniProtKB:P01116#VAR_065145,OMIM:190070.0016
single nucleotide variantNM_033360.4(KRAS):c.15A>T (p.Lys5Asn)KRASPathogenic122539830425398304TAreviewed by expert panelClinGen:CA234191,UniProtKB:P01116#VAR_064849,OMIM:190070.0017
single nucleotide variantNM_033360.4(KRAS):c.*22C>GKRASPathogenic122536282825362828GCcriteria provided, multiple submitters, no conflictsClinGen:CA279964,OMIM:190070.0018
single nucleotide variantNM_004985.5(KRAS):c.13A>G (p.Lys5Glu)KRASPathogenic/Likely pathogenic122539830625398306TCcriteria provided, multiple submitters, no conflictsClinGen:CA250291,UniProtKB:P01116#VAR_065144,OMIM:190070.0019
single nucleotide variantNM_033360.4(KRAS):c.178G>A (p.Gly60Ser)KRASPathogenic122538028025380280CTcriteria provided, multiple submitters, no conflictsClinGen:CA256484,UniProtKB:P01116#VAR_065146,OMIM:190070.0020
DuplicationNM_005633.4(SOS1):c.3248dup (p.Arg1084fs)SOS1Likely pathogenic23922236139222362TTGcriteria provided, single submitterOMIM:182530.0001,ClinGen:CA122763
single nucleotide variantNM_005633.4(SOS1):c.797C>A (p.Thr266Lys)SOS1Pathogenic23927835239278352GTcriteria provided, multiple submitters, no conflictsClinGen:CA256578,UniProtKB:Q07889#VAR_030424,OMIM:182530.0002
single nucleotide variantNM_005633.4(SOS1):c.806T>G (p.Met269Arg)SOS1Pathogenic23927834339278343ACcriteria provided, multiple submitters, no conflictsClinGen:CA235346,UniProtKB:Q07889#VAR_030425,OMIM:182530.0003
single nucleotide variantNM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)SOS1Pathogenic23924991539249915TCreviewed by expert panelClinGen:CA235350,UniProtKB:Q07889#VAR_030434,OMIM:182530.0004