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.887G>A (p.Arg296Gln)	GBA1	Pathogenic	1	155207244	155207244	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA221417,UniProtKB:P04062#VAR_003284,OMIM:606463.0041
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
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.1505G>A (p.Arg502His)	GBA1	Pathogenic/Likely pathogenic	1	155204986	155204986	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA341578
single nucleotide variant	NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)	GBA1	Pathogenic/Likely pathogenic	1	155207983	155207983	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA341581,UniProtKB:P04062#VAR_003278
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.115+1G>A	GBA1	Pathogenic/Likely pathogenic	1	155210420	155210420	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA221383,OMIM:606463.0015
single nucleotide variant	NM_000157.4(GBA1):c.1171G>C (p.Val391Leu)	GBA1	Pathogenic/Likely pathogenic	1	155206089	155206089	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA221384,UniProtKB:P04062#VAR_010065
single nucleotide variant	NM_000157.4(GBA1):c.1240G>T (p.Val414Leu)	GBA1	Pathogenic/Likely pathogenic	1	155205620	155205620	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA221390,UniProtKB:P04062#VAR_010068
single nucleotide variant	NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)	GBA1	Pathogenic/Likely pathogenic	1	155205043	155205043	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040607