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.1271T>C (p.Leu424Pro)	GBA1	Likely pathogenic	1	155205589	155205589	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000157.4(GBA1):c.1250G>A (p.Trp417Ter)	GBA1	Likely pathogenic	1	155205610	155205610	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000157.4(GBA1):c.497A>T (p.Asp166Val)	GBA1	Likely pathogenic	1	155208399	155208399	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)	GBA1	Pathogenic	1	155204987	155204987	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA221394,UniProtKB:P04062#VAR_003324,OMIM:606463.0008
single nucleotide variant	NM_000157.4(GBA1):c.254G>A (p.Gly85Glu)	GBA1	Pathogenic	1	155209730	155209730	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253063,UniProtKB:P04062#VAR_003258,OMIM:606463.0025
Duplication	NM_000157.4(GBA1):c.84dup (p.Leu29fs)	GBA1	Pathogenic	1	155210451	155210452	G	GC	criteria provided, multiple submitters, no conflicts	OMIM:606463.0014,ClinGen:CA221415
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.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.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
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