Knowledge base for genomic medicine in Japanese
筋原線維性ミオパチー
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)
DeletionNM_133378.4(TTN):c.41592_41611del (p.Val13865fs)TTNLikely pathogenic2179478809179478828GCCTGAACTGGTTCACCAACAGcriteria provided, multiple submitters, no conflictsClinGen:CA273619
DeletionNM_001267550.2(TTN):c.106019del (p.Gly35340fs)TTNPathogenic2179395323179395323ACAcriteria provided, multiple submitters, no conflictsClinVar:178839
DeletionNM_001267550.2(TTN):c.71634del (p.Ala23879fs)TTNLikely pathogenic2179439225179439225CTCcriteria provided, multiple submitters, no conflictsClinGen:CA273255
DeletionNM_001267550.2(TTN):c.70275del (p.Ser23425fs)TTNLikely pathogenic2179440584179440584CACcriteria provided, single submitterClinGen:CA273590
single nucleotide variantNM_001267550.2(TTN):c.68195C>A (p.Ser22732Ter)TTNLikely pathogenic2179443562179443562GTcriteria provided, single submitterClinGen:CA273679
DeletionNM_001267550.2(TTN):c.60399del (p.Ser20134fs)TTNLikely pathogenic2179456053179456053ATAcriteria provided, multiple submitters, no conflictsClinGen:CA273556
DeletionNM_001267550.2(TTN):c.72669del (p.Asp24224fs)TTNPathogenic/Likely pathogenic2179438190179438190CACcriteria provided, multiple submitters, no conflictsClinGen:CA273566
single nucleotide variantNM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter)TTNPathogenic/Likely pathogenic2179439538179439538CTcriteria provided, multiple submitters, no conflictsClinGen:CA273256
single nucleotide variantNM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter)TTNPathogenic/Likely pathogenic2179442793179442793GAcriteria provided, multiple submitters, no conflictsClinGen:CA273260
single nucleotide variantNM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter)TTNPathogenic/Likely pathogenic2179454235179454235ATcriteria provided, multiple submitters, no conflictsClinGen:CA273264