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_005633.4(SOS1):c.1656G>C (p.Arg552Ser)SOS1Pathogenic23924991339249913CGreviewed by expert panelClinGen:CA256580,UniProtKB:Q07889#VAR_030436,OMIM:182530.0005
single nucleotide variantNM_005633.4(SOS1):c.1294T>C (p.Trp432Arg)SOS1Pathogenic23925027539250275AGcriteria provided, multiple submitters, no conflictsClinGen:CA256582,UniProtKB:Q07889#VAR_030428,OMIM:182530.0006
single nucleotide variantNM_002834.5(PTPN11):c.214G>T (p.Ala72Ser)PTPN11Pathogenic12112888198112888198GTcriteria provided, multiple submitters, no conflictsClinGen:CA256749,UniProtKB:Q06124#VAR_015608,OMIM:176876.0001
single nucleotide variantNM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)PTPN11Pathogenic/Likely pathogenic12112888199112888199CGcriteria provided, multiple submitters, no conflictsClinGen:CA235319,UniProtKB:Q06124#VAR_015607,OMIM:176876.0002
single nucleotide variantNM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)PTPN11Pathogenic12112915523112915523AGreviewed by expert panelClinGen:CA220158,UniProtKB:Q06124#VAR_015619,OMIM:176876.0003
single nucleotide variantNM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)PTPN11Pathogenic12112915524112915524AGcriteria provided, multiple submitters, no conflictsClinGen:CA235328,UniProtKB:Q06124#VAR_015618,OMIM:176876.0004
single nucleotide variantNM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)PTPN11Pathogenic/Likely pathogenic12112910827112910827AGcriteria provided, multiple submitters, no conflictsClinGen:CA220149,UniProtKB:Q06124#VAR_015614,OMIM:176876.0005
single nucleotide variantNM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)PTPN11Pathogenic12112888168112888168TGreviewed by expert panelClinGen:CA234749,UniProtKB:Q06124#VAR_015605,OMIM:176876.0009
single nucleotide variantNM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)PTPN11Pathogenic12112888166112888166AGcriteria provided, multiple submitters, no conflictsClinGen:CA177665,UniProtKB:Q06124#VAR_015603,OMIM:176876.0010
single nucleotide variantNM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)PTPN11Pathogenic12112926270112926270CTreviewed by expert panelClinGen:CA220134,OMIM:176876.0006