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_004985.5(KRAS):c.37G>T (p.Gly13Cys)KRASPathogenic/Likely pathogenic122539828225398282CAcriteria provided, multiple submitters, no conflictsClinGen:CA135570,OMIM:190070.0023
single nucleotide variantNM_004985.5(KRAS):c.38G>T (p.Gly13Val)KRASPathogenic122539828125398281CAcriteria provided, single submitterClinGen:CA135573
single nucleotide variantNM_004985.5(KRAS):c.39C>T (p.Gly13=)KRASLikely pathogenic122539828025398280GAcriteria provided, single submitterClinGen:CA135576
single nucleotide variantNM_004985.5(KRAS):c.454G>T (p.Val152Phe)KRASLikely pathogenic122536284225362842CAcriteria provided, single submitterClinGen:CA261705
single nucleotide variantNM_004985.5(KRAS):c.466T>G (p.Phe156Val)KRASPathogenic/Likely pathogenic122536283025362830ACcriteria provided, multiple submitters, no conflictsClinGen:CA261709
single nucleotide variantNM_005633.4(SOS1):c.1132A>G (p.Thr378Ala)SOS1Pathogenic/Likely pathogenic23925122139251221TCcriteria provided, multiple submitters, no conflictsClinGen:CA261714,UniProtKB:Q07889#VAR_066036
single nucleotide variantNM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)SOS1Pathogenic/Likely pathogenic23925025939250259AGcriteria provided, multiple submitters, no conflictsClinGen:CA261719,UniProtKB:Q07889#VAR_066042
single nucleotide variantNM_005633.4(SOS1):c.3022T>C (p.Tyr1008His)SOS1Likely pathogenic23922412239224122AGcriteria provided, single submitterClinGen:CA261736
single nucleotide variantNM_005633.4(SOS1):c.335C>G (p.Pro112Arg)SOS1Likely pathogenic23928582439285824GCcriteria provided, single submitterClinGen:CA261741,UniProtKB:Q07889#VAR_066033
single nucleotide variantNM_005633.4(SOS1):c.512T>C (p.Val171Ala)SOS1Likely pathogenic23928196339281963AGreviewed by expert panelClinGen:CA261743