Knowledge base for genomic medicine in Japanese
ゴーシェ病
小児・神経疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DuplicationNM_000157.4(GBA1):c.84dup (p.Leu29fs)GBA1Pathogenic1155210451155210452GGCcriteria provided, multiple submitters, no conflictsOMIM:606463.0014,ClinGen:CA221415
single nucleotide variantNM_000157.4(GBA1):c.115+1G>AGBA1Pathogenic/Likely pathogenic1155210420155210420CTcriteria provided, multiple submitters, no conflictsClinGen:CA221383,OMIM:606463.0015
DeletionNM_000157.4(GBA1):c.222_224del (p.Thr75del)GBA1Pathogenic/Likely pathogenic1155209760155209762GGTAGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000157.4(GBA1):c.254G>A (p.Gly85Glu)GBA1Pathogenic1155209730155209730CTcriteria provided, multiple submitters, no conflictsClinGen:CA253063,UniProtKB:P04062#VAR_003258,OMIM:606463.0025
single nucleotide variantNM_000157.4(GBA1):c.259C>T (p.Arg87Trp)GBA1Pathogenic1155209725155209725GAcriteria provided, multiple submitters, no conflictsUniProtKB:P04062#VAR_003259,OMIM:606463.0033,ClinGen:CA253098
single nucleotide variantNM_000157.4(GBA1):c.354G>C (p.Lys118Asn)GBA1Pathogenic/Likely pathogenic1155209507155209507CGcriteria provided, multiple submitters, no conflictsClinGen:CA221396,UniProtKB:P04062#VAR_003260,OMIM:606463.0043
single nucleotide variantNM_000157.4(GBA1):c.475C>T (p.Arg159Trp)GBA1Pathogenic1155208421155208421GAcriteria provided, multiple submitters, no conflictsClinGen:CA221398,UniProtKB:P04062#VAR_003264
single nucleotide variantNM_000157.4(GBA1):c.476G>A (p.Arg159Gln)GBA1Pathogenic/Likely pathogenic1155208420155208420CTcriteria provided, multiple submitters, no conflictsClinGen:CA253057,UniProtKB:P04062#VAR_003263,OMIM:606463.0004
DeletionNM_000157.4(GBA1):c.487del (p.Ala163fs)GBA1Pathogenic1155208409155208409GCGcriteria provided, single submitterClinGen:CA221400
single nucleotide variantNM_000157.4(GBA1):c.497A>T (p.Asp166Val)GBA1Likely pathogenic1155208399155208399TAcriteria provided, single submitter-