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.476G>A (p.Arg159Gln)	GBA1	Pathogenic/Likely pathogenic	1	155208420	155208420	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253057,UniProtKB:P04062#VAR_003263,OMIM:606463.0004
single nucleotide variant	NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)	GBA1	Pathogenic/Likely pathogenic	1	155205563	155205563	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253059,UniProtKB:P04062#VAR_003310,OMIM:606463.0005
single nucleotide variant	NM_000157.4(GBA1):c.1342G>C (p.Asp448His)	GBA1	Pathogenic/Likely pathogenic	1	155205518	155205518	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA221392,UniProtKB:P04062#VAR_003313,OMIM:606463.0006,OMIM:606463.0047,ClinVar:4334
single nucleotide variant	NM_000157.4(GBA1):c.1343A>T (p.Asp448Val)	GBA1	Likely pathogenic	1	155205517	155205517	T	A	criteria provided, single submitter	ClinGen:CA253061,UniProtKB:P04062#VAR_003314,OMIM:606463.0007
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
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
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
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.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