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.1604G>A (p.Arg535His)	GBA1	Pathogenic/Likely pathogenic	1	155204793	155204793	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA234081,UniProtKB:P04062#VAR_003328,OMIM:606463.0022
single nucleotide variant	NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys)	GBA1	Pathogenic/Likely pathogenic	1	155204794	155204794	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1141476,UniProtKB:P04062#VAR_003327,ClinVar:424820
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.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.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.1448T>G (p.Leu483Arg)	GBA1	Pathogenic/Likely pathogenic	1	155205043	155205043	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040607
single nucleotide variant	NM_000157.4(GBA1):c.1357C>T (p.Gln453Ter)	GBA1	Pathogenic	1	155205503	155205503	G	A	criteria provided, single submitter	-
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.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.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