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.896A>G (p.Asp299Gly)	GLA	Likely pathogenic	X	100653461	100653461	T	C	criteria provided, single submitter	-
Deletion	NM_000169.3(GLA):c.777del (p.Gly261fs)	GLA	Pathogenic	X	100653797	100653797	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.188G>A (p.Cys63Tyr)	GLA	Pathogenic	X	100662704	100662704	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.132G>A (p.Trp44Ter)	GLA	Pathogenic	X	100662760	100662760	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.893A>G (p.Asn298Ser)	GLA	Likely pathogenic	X	100653464	100653464	T	C	criteria provided, single submitter	-
Deletion	NM_000169.3(GLA):c.613_621del (p.Pro205_Tyr207del)	GLA	Likely pathogenic	X	100655672	100655680	TATAAAGAGG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.254G>A (p.Gly85Asp)	GLA	Pathogenic/Likely pathogenic	X	100658914	100658914	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.290C>T (p.Ala97Val)	GLA	Pathogenic	X	100658878	100658878	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.126G>C (p.Met42Ile)	GLA	Pathogenic	X	100662766	100662766	C	G	criteria provided, single submitter	-
Deletion	NM_000169.3(GLA):c.800del (p.Met267fs)	GLA	Pathogenic	X	100653774	100653774	CA	C	criteria provided, single submitter	-