ゴーシェ病 - MGenReviews

ゴーシェ病

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000157.4(GBA1):c.1171G>C (p.Val391Leu)	GBA1	Pathogenic/Likely pathogenic	1	155206089	155206089	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA221384,UniProtKB:P04062#VAR_010065
single nucleotide variant	NM_000157.4(GBA1):c.115+1G>A	GBA1	Pathogenic/Likely pathogenic	1	155210420	155210420	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA221383,OMIM:606463.0015
single nucleotide variant	NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)	GBA1	Pathogenic/Likely pathogenic	1	155207983	155207983	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA341581,UniProtKB:P04062#VAR_003278
single nucleotide variant	NM_000157.4(GBA1):c.1505G>A (p.Arg502His)	GBA1	Pathogenic/Likely pathogenic	1	155204986	155204986	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA341578
single nucleotide variant	NM_000157.4(GBA1):c.354G>C (p.Lys118Asn)	GBA1	Pathogenic/Likely pathogenic	1	155209507	155209507	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA221396,UniProtKB:P04062#VAR_003260,OMIM:606463.0043
single nucleotide variant	NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)	GBA1	Pathogenic/Likely pathogenic	1	155205614	155205614	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253107,UniProtKB:P04062#VAR_003303,OMIM:606463.0040
single nucleotide variant	NM_000157.4(GBA1):c.1604G>A (p.Arg535His)	GBA1	Pathogenic/Likely pathogenic	1	155204793	155204793	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA234081,UniProtKB:P04062#VAR_003328,OMIM:606463.0022
single nucleotide variant	NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile)	GBA1	Pathogenic/Likely pathogenic	1	155206175	155206175	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P04062#VAR_003294,OMIM:606463.0017,ClinGen:CA253074
single nucleotide variant	NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)	GBA1	Pathogenic/Likely pathogenic	1	155207932	155207932	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA221413,UniProtKB:P04062#VAR_003281,OMIM:606463.0013
single nucleotide variant	NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)	GBA1	Pathogenic/Likely pathogenic	1	155207367	155207367	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253065,UniProtKB:P04062#VAR_003282,OMIM:606463.0010