Knowledge base for genomic medicine in Japanese
家族性胸部大動脈瘤・解離
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNC_000016.10:g.(?_15703981)_(15838262_?)delMYH11Pathogenic161579783815932119nanacriteria provided, single submitter-
single nucleotide variantNM_002474.3(MYH11):c.4825C>T (p.Arg1609Ter)MYH11Likely pathogenic161581413615814136GAcriteria provided, single submitter-
DeletionNM_002474.3(MYH11):c.5027_5028del (p.Lys1676fs)MYH11Pathogenic161581349615813497CTTCcriteria provided, single submitter-
single nucleotide variantNM_002474.3(MYH11):c.4578+1G>CMYH11Pathogenic/Likely pathogenic161581527815815278CGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_002474.3(MYH11):c.726+1G>AMYH11Likely pathogenic161587624115876241CTcriteria provided, single submitterClinGen:CA7922844
DeletionNC_000016.10:g.(?_15823235)_(15838272_?)delMYH11Pathogenic161591709215932129nanacriteria provided, single submitter-
DeletionNC_000016.10:g.(?_15703971)_(15838272_?)delMYH11Pathogenic161579782815932129nanacriteria provided, single submitter-
single nucleotide variantNM_002474.3(MYH11):c.4360G>C (p.Asp1454His)MYH11Likely pathogenic161581802315818023CGcriteria provided, single submitterClinGen:CA16043500
single nucleotide variantNM_002474.3(MYH11):c.4578+1G>AMYH11Pathogenic/Likely pathogenic161581527815815278CTcriteria provided, multiple submitters, no conflictsClinGen:CA16043053
DeletionNM_002474.3(MYH11):c.2809_2810del (p.Arg937fs)MYH11Pathogenic161583536915835370CCTCcriteria provided, single submitterClinGen:CA277177,OMIM:160745.0007