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_001005373.4(LRSAM1):c.388C>T (p.Gln130Ter)LRSAM1Pathogenic9130223518130223518CTcriteria provided, single submitterClinGen:CA374968146
single nucleotide variantNM_018972.4(GDAP1):c.571C>T (p.Arg191Ter)GDAP1Pathogenic/Likely pathogenic87527420575274205CTcriteria provided, multiple submitters, no conflictsClinGen:CA371549300
single nucleotide variantNM_001005373.4(LRSAM1):c.636C>G (p.Tyr212Ter)LRSAM1Pathogenic9130236096130236096CGcriteria provided, single submitterClinGen:CA374929642
single nucleotide variantNM_001005373.4(LRSAM1):c.252+1G>ALRSAM1Likely pathogenic9130219673130219673GAcriteria provided, single submitterClinGen:CA374964715
DeletionNM_001005373.4(LRSAM1):c.2102del (p.Gln701fs)LRSAM1Likely pathogenic9130265108130265108CACcriteria provided, single submitterClinGen:CA658797277
single nucleotide variantNM_002180.3(IGHMBP2):c.1198G>A (p.Asp400Asn)IGHMBP2Pathogenic/Likely pathogenic116869678868696788GAcriteria provided, multiple submitters, no conflictsClinGen:CA6153542
single nucleotide variantNM_021625.5(TRPV4):c.805C>A (p.Arg269Ser)TRPV4Likely pathogenic12110238471110238471GTcriteria provided, single submitterClinGen:CA386655325
single nucleotide variantNM_021625.5(TRPV4):c.710G>T (p.Arg237Leu)TRPV4Likely pathogenic12110240798110240798CAcriteria provided, single submitterClinGen:CA386655927
single nucleotide variantNM_016156.6(MTMR2):c.993+1G>AMTMR2Likely pathogenic119558283795582837CTcriteria provided, single submitterClinGen:CA382425108
single nucleotide variantNM_016156.6(MTMR2):c.804+2T>GMTMR2Likely pathogenic119558376295583762ACcriteria provided, single submitterClinGen:CA382425665