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.547+1G>A	GLA	Pathogenic	X	100656619	100656619	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.547G>A (p.Gly183Ser)	GLA	Pathogenic	X	100656620	100656620	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352572
single nucleotide variant	NM_000169.3(GLA):c.515G>A (p.Cys172Tyr)	GLA	Pathogenic	X	100656652	100656652	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.511G>A (p.Gly171Ser)	GLA	Likely pathogenic	X	100656656	100656656	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.337T>C (p.Phe113Leu)	GLA	Pathogenic	X	100658831	100658831	A	G	criteria provided, multiple submitters, no conflicts	OMIM:300644.0063
single nucleotide variant	NM_000169.3(GLA):c.298A>T (p.Arg100Ter)	GLA	Pathogenic	X	100658870	100658870	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.277G>A (p.Asp93Asn)	GLA	Pathogenic	X	100658891	100658891	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.272T>C (p.Ile91Thr)	GLA	Pathogenic	X	100658896	100658896	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000169.3(GLA):c.172del (p.Glu58fs)	GLA	Likely pathogenic	X	100662720	100662720	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.169C>T (p.Gln57Ter)	GLA	Pathogenic	X	100662723	100662723	G	A	criteria provided, single submitter	-