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_006912.6(RIT1):c.69A>C (p.Lys23Asn)RIT1Pathogenic1155880484155880484TGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_006912.6(RIT1):c.104G>C (p.Ser35Thr)RIT1Pathogenic1155880449155880449CGcriteria provided, multiple submitters, no conflictsClinGen:CA353872,UniProtKB:Q92963#VAR_070149
single nucleotide variantNM_006912.6(RIT1):c.170C>G (p.Ala57Gly)RIT1Pathogenic1155874589155874589GCcriteria provided, multiple submitters, no conflictsClinGen:CA144537,UniProtKB:Q92963#VAR_070150,OMIM:609591.0001
single nucleotide variantNM_006912.6(RIT1):c.229G>T (p.Ala77Ser)RIT1Pathogenic1155874530155874530CAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_006912.6(RIT1):c.229G>C (p.Ala77Pro)RIT1Pathogenic/Likely pathogenic1155874530155874530CGcriteria provided, multiple submitters, no conflictsClinGen:CA10576360
single nucleotide variantNM_006912.6(RIT1):c.229G>A (p.Ala77Thr)RIT1Pathogenic/Likely pathogenic1155874530155874530CTcriteria provided, multiple submitters, no conflictsClinGen:CA353870
single nucleotide variantNM_006912.6(RIT1):c.233G>A (p.Gly78Glu)RIT1Likely pathogenic1155874526155874526CTcriteria provided, single submitter-
single nucleotide variantNM_006912.6(RIT1):c.242A>G (p.Glu81Gly)RIT1Pathogenic/Likely pathogenic1155874289155874289TCcriteria provided, multiple submitters, no conflictsClinGen:CA353880,UniProtKB:Q92963#VAR_070151,OMIM:609591.0002
single nucleotide variantNM_006912.6(RIT1):c.244T>A (p.Phe82Ile)RIT1Pathogenic1155874287155874287ATcriteria provided, multiple submitters, no conflictsClinGen:CA353868
single nucleotide variantNM_006912.6(RIT1):c.244T>C (p.Phe82Leu)RIT1Pathogenic1155874287155874287AGcriteria provided, multiple submitters, no conflictsClinGen:CA353877,UniProtKB:Q92963#VAR_070152