Knowledge base for genomic medicine in Japanese
ゴーシェ病
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000157.4(GBA1):c.701G>A (p.Gly234Glu)GBA1Pathogenic1155207985155207985CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000157.4(GBA1):c.886C>T (p.Arg296Ter)GBA1Pathogenic1155207245155207245GAcriteria provided, single submitter-
single nucleotide variantNM_000157.4(GBA1):c.1279G>T (p.Glu427Ter)GBA1Likely pathogenic1155205581155205581CAcriteria provided, single submitterClinGen:CA342713575
single nucleotide variantNM_000157.4(GBA1):c.1348T>A (p.Phe450Ile)GBA1Pathogenic1155205512155205512ATcriteria provided, single submitterClinGen:CA342712792
single nucleotide variantNM_000157.4(GBA1):c.1052G>C (p.Trp351Ser)GBA1Likely pathogenic1155206208155206208CGcriteria provided, multiple submitters, no conflictsClinGen:CA342717600
single nucleotide variantNM_000157.4(GBA1):c.1312G>A (p.Asp438Asn)GBA1Pathogenic1155205548155205548CTcriteria provided, multiple submitters, no conflictsClinGen:CA342713229
DeletionNM_000157.4(GBA1):c.630del (p.Val211fs)GBA1Pathogenic1155208056155208056CGCcriteria provided, single submitterClinGen:CA658683166
DeletionNM_000157.4(GBA1):c.1029del (p.Lys342_Tyr343insTer)GBA1Pathogenic1155206231155206231CACcriteria provided, single submitterClinGen:CA421022126
single nucleotide variantNM_000157.4(GBA1):c.860G>T (p.Cys287Phe)GBA1Likely pathogenic1155207271155207271CAcriteria provided, single submitterClinGen:CA16603437
single nucleotide variantNM_000157.4(GBA1):c.580A>T (p.Lys194Ter)GBA1Pathogenic1155208316155208316TAcriteria provided, single submitterClinGen:CA10603918