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
Deletion	NM_000169.3(GLA):c.1028del (p.Pro343fs)	GLA	Pathogenic	X	100653059	100653059	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.1021G>A (p.Glu341Lys)	GLA	Pathogenic	X	100653066	100653066	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.1000-1G>A	GLA	Pathogenic	X	100653088	100653088	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.1000-10G>A	GLA	Likely pathogenic	X	100653097	100653097	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.983G>T (p.Gly328Val)	GLA	Likely pathogenic	X	100653374	100653374	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.966C>A (p.Asp322Glu)	GLA	Pathogenic	X	100653391	100653391	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352266
single nucleotide variant	NM_000169.3(GLA):c.902G>C (p.Arg301Pro)	GLA	Pathogenic	X	100653455	100653455	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.887T>C (p.Met296Thr)	GLA	Likely pathogenic	X	100653470	100653470	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.877C>T (p.Pro293Ser)	GLA	Likely pathogenic	X	100653480	100653480	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.871G>A (p.Ala291Thr)	GLA	Likely pathogenic	X	100653486	100653486	C	T	criteria provided, single submitter	-