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.508C>T (p.Arg170Cys)	GBA1	Pathogenic	1	155208388	155208388	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA221401,UniProtKB:P04062#VAR_009035
single nucleotide variant	NM_000157.4(GBA1):c.509G>T (p.Arg170Leu)	GBA1	Likely pathogenic	1	155208387	155208387	C	A	criteria provided, single submitter	ClinGen:CA253112,UniProtKB:P04062#VAR_009036,OMIM:606463.0042
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.580A>T (p.Lys194Ter)	GBA1	Pathogenic	1	155208316	155208316	T	A	criteria provided, single submitter	ClinGen:CA10603918
Deletion	NM_000157.4(GBA1):c.595_596del (p.Leu199fs)	GBA1	Pathogenic	1	155208090	155208091	CAG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000157.4(GBA1):c.625C>T (p.Arg209Cys)	GBA1	Pathogenic/Likely pathogenic	1	155208061	155208061	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA221403,UniProtKB:P04062#VAR_032404
Deletion	NM_000157.4(GBA1):c.630del (p.Val211fs)	GBA1	Pathogenic	1	155208056	155208056	CG	C	criteria provided, single submitter	ClinGen:CA658683166
single nucleotide variant	NM_000157.4(GBA1):c.653G>A (p.Trp218Ter)	GBA1	Pathogenic	1	155208033	155208033	C	T	criteria provided, multiple submitters, no conflicts	-
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.681T>G (p.Asn227Lys)	GBA1	Pathogenic/Likely pathogenic	1	155208005	155208005	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA221409,UniProtKB:P04062#VAR_003275