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)
DeletionNM_000157.4(GBA1):c.222_224del (p.Thr75del)GBA1Pathogenic/Likely pathogenic1155209760155209762GGTAGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000157.4(GBA1):c.762-1G>CGBA1Pathogenic/Likely pathogenic1155207370155207370CGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000157.4(GBA1):c.497A>T (p.Asp166Val)GBA1Likely pathogenic1155208399155208399TAcriteria provided, single submitter-
DeletionNM_000157.4(GBA1):c.595_596del (p.Leu199fs)GBA1Pathogenic1155208090155208091CAGCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000157.4(GBA1):c.653G>A (p.Trp218Ter)GBA1Pathogenic1155208033155208033CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000157.4(GBA1):c.709A>G (p.Lys237Glu)GBA1Pathogenic/Likely pathogenic1155207977155207977TCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000157.4(GBA1):c.1250G>A (p.Trp417Ter)GBA1Likely pathogenic1155205610155205610CTcriteria provided, single submitter-
single nucleotide variantNM_000157.4(GBA1):c.1357C>T (p.Gln453Ter)GBA1Pathogenic1155205503155205503GAcriteria provided, single submitter-
single nucleotide variantNM_000157.4(GBA1):c.1271T>C (p.Leu424Pro)GBA1Likely pathogenic1155205589155205589AGcriteria provided, single submitter-
single nucleotide variantNM_000157.4(GBA1):c.928A>G (p.Ser310Gly)GBA1Pathogenic/Likely pathogenic1155207203155207203TCcriteria provided, multiple submitters, no conflicts-