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_002834.5(PTPN11):c.794G>A (p.Arg265Gln)PTPN11Pathogenic12112910785112910785GAreviewed by expert panelClinGen:CA234739
single nucleotide variantNM_002834.5(PTPN11):c.802G>T (p.Gly268Cys)PTPN11Pathogenic/Likely pathogenic12112910793112910793GTcriteria provided, multiple submitters, no conflictsClinGen:CA261597
single nucleotide variantNM_002834.5(PTPN11):c.844A>G (p.Ile282Val)PTPN11Pathogenic12112910835112910835AGcriteria provided, multiple submitters, no conflictsClinGen:CA220152,UniProtKB:Q06124#VAR_015615
single nucleotide variantNM_002834.5(PTPN11):c.846C>G (p.Ile282Met)PTPN11Pathogenic/Likely pathogenic12112910837112910837CGcriteria provided, multiple submitters, no conflictsClinGen:CA261600
single nucleotide variantNM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)PTPN11Pathogenic12112910844112910844TCcriteria provided, multiple submitters, no conflictsClinGen:CA220155
single nucleotide variantNM_002834.5(PTPN11):c.854T>G (p.Phe285Cys)PTPN11Pathogenic/Likely pathogenic12112915455112915455TGcriteria provided, multiple submitters, no conflictsClinGen:CA261603
single nucleotide variantNM_002834.5(PTPN11):c.923A>C (p.Asn308Thr)PTPN11Pathogenic/Likely pathogenic12112915524112915524ACcriteria provided, multiple submitters, no conflictsClinGen:CA261607
single nucleotide variantNM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser)PTPN11Pathogenic12112926248112926248GTcriteria provided, multiple submitters, no conflictsClinGen:CA261537
single nucleotide variantNM_002834.5(PTPN11):c.1402A>C (p.Thr468Pro)PTPN11Pathogenic12112926269112926269ACcriteria provided, multiple submitters, no conflictsClinGen:CA282123
single nucleotide variantNM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)PTPN11Pathogenic/Likely pathogenic12112926851112926851CAcriteria provided, multiple submitters, no conflictsClinGen:CA261540