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.1549G>A (p.Gly517Ser)	GBA1	Pathogenic	1	155204848	155204848	C	T	criteria provided, single submitter	ClinGen:CA253081,UniProtKB:P04062#VAR_003326,OMIM:606463.0021
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.680A>G (p.Asn227Ser)	GBA1	Pathogenic	1	155208006	155208006	T	C	criteria provided, multiple submitters, no conflicts	UniProtKB:P04062#VAR_003274,OMIM:606463.0026,ClinGen:CA253086
single nucleotide variant	NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg)	GBA1	Likely pathogenic	1	155206170	155206170	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA221381,UniProtKB:P04062#VAR_003296,OMIM:606463.0030
single nucleotide variant	NM_000157.4(GBA1):c.1208G>C (p.Ser403Thr)	GBA1	Likely pathogenic	1	155206052	155206052	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA253096,UniProtKB:P04062#VAR_003300,OMIM:606463.0032
single nucleotide variant	NM_000157.4(GBA1):c.259C>T (p.Arg87Trp)	GBA1	Pathogenic	1	155209725	155209725	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P04062#VAR_003259,OMIM:606463.0033,ClinGen:CA253098
Deletion	NM_000157.4(GBA1):c.533del (p.Pro178fs)	GBA1	Likely pathogenic	1	155208363	155208363	AG	A	criteria provided, single submitter	OMIM:606463.0034,ClinGen:CA253100
single nucleotide variant	NM_000157.4(GBA1):c.1049A>G (p.His350Arg)	GBA1	Likely pathogenic	1	155206211	155206211	T	C	criteria provided, single submitter	ClinGen:CA253105,UniProtKB:P04062#VAR_009044,OMIM:606463.0037
single nucleotide variant	NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter)	GBA1	Pathogenic	1	155206068	155206068	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA221386,OMIM:606463.0038
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