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
Deletion	NM_000157.4(GBA1):c.1029del (p.Lys342_Tyr343insTer)	GBA1	Pathogenic	1	155206231	155206231	CA	C	criteria provided, single submitter	ClinGen:CA421022126
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.1312G>A (p.Asp438Asn)	GBA1	Pathogenic	1	155205548	155205548	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA342713229
single nucleotide variant	NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser)	GBA1	Likely pathogenic	1	155206208	155206208	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA342717600
single nucleotide variant	NM_000157.4(GBA1):c.1348T>A (p.Phe450Ile)	GBA1	Pathogenic	1	155205512	155205512	A	T	criteria provided, single submitter	ClinGen:CA342712792
single nucleotide variant	NM_000157.4(GBA1):c.1279G>T (p.Glu427Ter)	GBA1	Likely pathogenic	1	155205581	155205581	C	A	criteria provided, single submitter	ClinGen:CA342713575
single nucleotide variant	NM_000157.4(GBA1):c.886C>T (p.Arg296Ter)	GBA1	Pathogenic	1	155207245	155207245	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000157.4(GBA1):c.701G>A (p.Gly234Glu)	GBA1	Pathogenic	1	155207985	155207985	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000157.4(GBA1):c.928A>G (p.Ser310Gly)	GBA1	Pathogenic/Likely pathogenic	1	155207203	155207203	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000157.4(GBA1):c.1271T>C (p.Leu424Pro)	GBA1	Likely pathogenic	1	155205589	155205589	A	G	criteria provided, single submitter	-