Knowledge base for genomic medicine in Japanese
シャルコー・マリー・トゥース病
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000530.8(MPZ):c.68-1G>AMPZPathogenic/Likely pathogenic1161277215161277215CTcriteria provided, multiple submitters, no conflicts-
DeletionNM_000166.6(GJB1):c.807_808del (p.Ala271fs)GJB1Pathogenic/Likely pathogenicX7044436470444365CCGCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000166.6(GJB1):c.265C>G (p.Leu89Val)GJB1Pathogenic/Likely pathogenicX7044382270443822CGcriteria provided, multiple submitters, no conflicts-
DuplicationNM_181882.3(PRX):c.165_177dup (p.Gln60fs)PRXPathogenic/Likely pathogenic194090961940909620GGCAGGCTGAGGCTCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000304.4(PMP22):c.420G>A (p.Trp140Ter)PMP22Pathogenic/Likely pathogenic171513429715134297CTcriteria provided, multiple submitters, no conflicts-
DeletionNM_025137.4(SPG11):c.1478_1482del (p.Leu493fs)SPG11Pathogenic/Likely pathogenic154494118444941188CAAACACcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_025137.4(SPG11):c.3809T>A (p.Val1270Asp)SPG11Pathogenic/Likely pathogenic154489091244890912ATcriteria provided, multiple submitters, no conflicts-
DeletionNM_025137.4(SPG11):c.4075del (p.Ile1359fs)SPG11Pathogenic/Likely pathogenic154488906844889068ATAcriteria provided, multiple submitters, no conflicts-
DeletionNM_018706.7(DHTKD1):c.2457_2458del (p.Glu821fs)DHTKD1Pathogenic/Likely pathogenic101216080112160802CAACcriteria provided, multiple submitters, no conflicts-
DuplicationNM_003172.4(SURF1):c.281dup (p.Leu94fs)SURF1Pathogenic/Likely pathogenic9136221555136221556CCAcriteria provided, multiple submitters, no conflicts-