ファブリー病 - MGenReviews

ファブリー病

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_000169.3(GLA):c.679C>T (p.Arg227Ter)	GLA	Pathogenic	X	100653895	100653895	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021963,OMIM:300644.0020
single nucleotide variant	NM_000169.3(GLA):c.791A>T (p.Asp264Val)	GLA	Pathogenic/Likely pathogenic	X	100653783	100653783	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA022056,UniProtKB:P06280#VAR_000471,OMIM:300644.0021
single nucleotide variant	NM_000169.3(GLA):c.797A>T (p.Asp266Val)	GLA	Pathogenic	X	100653777	100653777	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA022064,UniProtKB:P06280#VAR_000472,OMIM:300644.0022
single nucleotide variant	NM_000169.3(GLA):c.890C>T (p.Ser297Phe)	GLA	Pathogenic	X	100653467	100653467	G	A	criteria provided, single submitter	ClinGen:CA022153,UniProtKB:P06280#VAR_000479,OMIM:300644.0025
single nucleotide variant	NM_000169.3(GLA):c.983G>C (p.Gly328Ala)	GLA	Pathogenic	X	100653374	100653374	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA022267,UniProtKB:P06280#VAR_000486,OMIM:300644.0028
single nucleotide variant	NM_000169.3(GLA):c.1020G>A (p.Trp340Ter)	GLA	Pathogenic	X	100653067	100653067	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021307,OMIM:300644.0029
single nucleotide variant	NM_000169.3(GLA):c.1025G>A (p.Arg342Gln)	GLA	Pathogenic	X	100653062	100653062	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021326,UniProtKB:P06280#VAR_000487,OMIM:300644.0030
single nucleotide variant	NM_000169.3(GLA):c.1024C>T (p.Arg342Ter)	GLA	Pathogenic	X	100653063	100653063	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021320,OMIM:300644.0031
single nucleotide variant	NM_000169.3(GLA):c.1192G>T (p.Glu398Ter)	GLA	Pathogenic	X	100652895	100652895	C	A	criteria provided, single submitter	ClinGen:CA021448,OMIM:300644.0033
single nucleotide variant	NM_000169.3(GLA):c.1095T>A (p.Tyr365Ter)	GLA	Pathogenic	X	100652992	100652992	A	T	criteria provided, single submitter	ClinGen:CA021385,OMIM:300644.0055