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
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.115+1G>A	GBA1	Pathogenic/Likely pathogenic	1	155210420	155210420	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA221383,OMIM:606463.0015
Deletion	NM_000157.4(GBA1):c.222_224del (p.Thr75del)	GBA1	Pathogenic/Likely pathogenic	1	155209760	155209762	GGTA	G	criteria provided, multiple submitters, no conflicts	-
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.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.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.475C>T (p.Arg159Trp)	GBA1	Pathogenic	1	155208421	155208421	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA221398,UniProtKB:P04062#VAR_003264
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
Deletion	NM_000157.4(GBA1):c.487del (p.Ala163fs)	GBA1	Pathogenic	1	155208409	155208409	GC	G	criteria provided, single submitter	ClinGen:CA221400
single nucleotide variant	NM_000157.4(GBA1):c.497A>T (p.Asp166Val)	GBA1	Likely pathogenic	1	155208399	155208399	T	A	criteria provided, single submitter	-