Knowledge base for genomic medicine in Japanese
若年性ポリポーシス症候群
腫瘍性疾患
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_005359.6(SMAD4):c.1081C>A (p.Arg361Ser)SMAD4Likely pathogenic184859191848591918CAcriteria provided, single submitterClinGen:CA259197
single nucleotide variantNM_005359.6(SMAD4):c.989A>G (p.Glu330Gly)SMAD4Likely pathogenic184859182648591826AGcriteria provided, single submitterClinGen:CA165407,UniProtKB:Q13485#VAR_022833,UniProtKB/Swiss-Prot:VAR_022833
DeletionNM_005359.6(SMAD4):c.1037del (p.Pro346fs)SMAD4Pathogenic184859187248591872GCGcriteria provided, single submitterClinGen:CA259200
single nucleotide variantNM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg)SMAD4Pathogenic/Likely pathogenic184859189148591891GAcriteria provided, multiple submitters, no conflictsClinGen:CA128090,UniProtKB:Q13485#VAR_019571,UniProtKB/Swiss-Prot:VAR_019571,OMIM:600993.0011
single nucleotide variantNM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly)SMAD4Pathogenic184859191848591918CGcriteria provided, multiple submitters, no conflictsClinGen:CA128092
single nucleotide variantNM_005359.6(SMAD4):c.1082G>A (p.Arg361His)SMAD4Pathogenic184859191948591919GAcriteria provided, multiple submitters, no conflictsClinGen:CA128097,UniProtKB:Q13485#VAR_036477
DeletionNM_005359.6(SMAD4):c.1088_1090del (p.Cys363del)SMAD4Likely pathogenic184859192348591925TTTGTcriteria provided, single submitter-
single nucleotide variantNM_005359.6(SMAD4):c.1091T>G (p.Leu364Trp)SMAD4Likely pathogenic184859192848591928TGcriteria provided, single submitter-
single nucleotide variantNM_005359.6(SMAD4):c.1139+1G>ASMAD4Likely pathogenic184859197748591977GAcriteria provided, single submitter-
DeletionNM_005359.6(SMAD4):c.1242del (p.Asp415fs)SMAD4Pathogenic184859349148593491TATcriteria provided, single submitterClinGen:CA259233