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.228G>T (p.Glu76Asp)PTPN11Pathogenic12112888212112888212GTcriteria provided, multiple submitters, no conflictsClinGen:CA261580,UniProtKB:Q06124#VAR_015610
single nucleotide variantNM_002834.5(PTPN11):c.228G>C (p.Glu76Asp)PTPN11Pathogenic12112888212112888212GCcriteria provided, multiple submitters, no conflictsClinGen:CA261577,UniProtKB:Q06124#VAR_015610
single nucleotide variantNM_002834.5(PTPN11):c.317A>C (p.Asp106Ala)PTPN11Pathogenic12112888301112888301ACcriteria provided, multiple submitters, no conflictsClinGen:CA261584,UniProtKB:Q06124#VAR_015612
single nucleotide variantNM_002834.5(PTPN11):c.328G>A (p.Glu110Lys)PTPN11Pathogenic/Likely pathogenic12112888312112888312GAcriteria provided, multiple submitters, no conflictsClinGen:CA261587
single nucleotide variantNM_002834.5(PTPN11):c.329A>C (p.Glu110Ala)PTPN11Pathogenic/Likely pathogenic12112888313112888313ACcriteria provided, multiple submitters, no conflictsClinGen:CA282085
single nucleotide variantNM_002834.5(PTPN11):c.417G>T (p.Glu139Asp)PTPN11Pathogenic12112891083112891083GTcriteria provided, multiple submitters, no conflictsClinGen:CA261590,UniProtKB:Q06124#VAR_015613
single nucleotide variantNM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)PTPN11Pathogenic12112891083112891083GCreviewed by expert panelClinGen:CA177671,UniProtKB:Q06124#VAR_015613
single nucleotide variantNM_002834.5(PTPN11):c.767A>G (p.Gln256Arg)PTPN11Pathogenic12112910758112910758AGcriteria provided, multiple submitters, no conflictsClinGen:CA235325,UniProtKB:Q06124#VAR_027187
single nucleotide variantNM_002834.5(PTPN11):c.781C>T (p.Leu261Phe)PTPN11Pathogenic12112910772112910772CTreviewed by expert panelClinGen:CA235373
single nucleotide variantNM_002834.5(PTPN11):c.785T>G (p.Leu262Arg)PTPN11Pathogenic12112910776112910776TGcriteria provided, multiple submitters, no conflictsClinGen:CA267615