Knowledge base for genomic medicine in Japanese
グルタル酸血症1型
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000159.4(GCDH):c.883T>C (p.Tyr295His)GCDHPathogenic191300775413007754TCcriteria provided, single submitterClinGen:CA252094,UniProtKB:Q92947#VAR_000389,OMIM:608801.0001
single nucleotide variantNM_000159.4(GCDH):c.1262C>T (p.Ala421Val)GCDHPathogenic191301030013010300CTcriteria provided, multiple submitters, no conflictsUniProtKB:Q92947#VAR_000420,OMIM:608801.0002,ClinGen:CA252095
single nucleotide variantNM_000159.4(GCDH):c.1247C>T (p.Thr416Ile)GCDHLikely pathogenic191301028513010285CTcriteria provided, single submitterClinGen:CA252096,UniProtKB:Q92947#VAR_000418,OMIM:608801.0003
single nucleotide variantNM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)GCDHPathogenic/Likely pathogenic191300863813008638CTcriteria provided, multiple submitters, no conflictsClinGen:CA252097,UniProtKB:Q92947#VAR_000412,OMIM:608801.0004
single nucleotide variantNM_000159.4(GCDH):c.1093G>A (p.Glu365Lys)GCDHPathogenic191300852713008527GAcriteria provided, multiple submitters, no conflictsUniProtKB:Q92947#VAR_000402,OMIM:608801.0005,ClinGen:CA252098
single nucleotide variantNM_000159.4(GCDH):c.1198G>A (p.Val400Met)GCDHPathogenic191300863213008632GAcriteria provided, multiple submitters, no conflictsClinGen:CA252099,UniProtKB:Q92947#VAR_000411,OMIM:608801.0008
single nucleotide variantNM_000159.4(GCDH):c.680G>C (p.Arg227Pro)GCDHPathogenic191300706313007063GCcriteria provided, multiple submitters, no conflictsClinGen:CA220441,UniProtKB:Q92947#VAR_000380,OMIM:608801.0009
single nucleotide variantNM_000159.4(GCDH):c.542A>G (p.Glu181Gly)GCDHPathogenic191300684213006842AGcriteria provided, single submitterClinGen:CA220438
single nucleotide variantNM_000159.4(GCDH):c.636-1G>AGCDHPathogenic/Likely pathogenic191300701813007018GAcriteria provided, multiple submitters, no conflictsClinGen:CA220440
single nucleotide variantNM_000159.4(GCDH):c.1240G>A (p.Glu414Lys)GCDHPathogenic191300867413008674GAcriteria provided, multiple submitters, no conflictsClinGen:CA234086,UniProtKB:Q92947#VAR_000417