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)
DeletionNM_000159.4(GCDH):c.636-4_639delGCDHPathogenic/Likely pathogenic191300701413007021CCCCAGGATCcriteria provided, multiple submitters, no conflictsClinGen:CA9234457
DeletionNM_000159.4(GCDH):c.636-3_639delGCDHLikely pathogenic191300701513007021CCCAGGATCcriteria provided, single submitterClinGen:CA658684223
single nucleotide variantNM_000159.4(GCDH):c.541G>C (p.Glu181Gln)GCDHPathogenic191300684113006841GCcriteria provided, single submitterClinGen:CA9234426
single nucleotide variantNM_000159.4(GCDH):c.881G>T (p.Arg294Leu)GCDHLikely pathogenic191300775213007752GTcriteria provided, single submitterClinGen:CA404319365
single nucleotide variantNM_000159.4(GCDH):c.281G>T (p.Arg94Leu)GCDHPathogenic/Likely pathogenic191300293913002939GTcriteria provided, multiple submitters, no conflictsClinGen:CA404315814
single nucleotide variantNM_000159.4(GCDH):c.1249C>G (p.His417Asp)GCDHPathogenic191301028713010287CGcriteria provided, single submitterClinGen:CA404322111
single nucleotide variantNM_000159.4(GCDH):c.262C>A (p.Arg88Ser)GCDHPathogenic/Likely pathogenic191300277913002779CAcriteria provided, multiple submitters, no conflictsClinGen:CA305500199
single nucleotide variantNM_000159.4(GCDH):c.770G>A (p.Arg257Gln)GCDHPathogenic/Likely pathogenic191300715313007153GAcriteria provided, multiple submitters, no conflictsClinGen:CA9234482
single nucleotide variantNM_000159.4(GCDH):c.3G>A (p.Met1Ile)GCDHLikely pathogenic191300212113002121GAcriteria provided, single submitter-
single nucleotide variantNM_000159.4(GCDH):c.1A>C (p.Met1Leu)GCDHLikely pathogenic191300211913002119ACcriteria provided, multiple submitters, no conflicts-