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.695T>C (p.Ile232Thr)	GLA	Pathogenic/Likely pathogenic	X	100653879	100653879	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.119C>T (p.Pro40Leu)	GLA	Pathogenic/Likely pathogenic	X	100662773	100662773	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.444T>G (p.Ser148Arg)	GLA	Pathogenic/Likely pathogenic	X	100656723	100656723	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.770C>T (p.Ala257Val)	GLA	Pathogenic/Likely pathogenic	X	100653804	100653804	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000169.3(GLA):c.863del (p.Ala288fs)	GLA	Pathogenic/Likely pathogenic	X	100653494	100653494	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000169.3(GLA):c.295del (p.Gln99fs)	GLA	Pathogenic/Likely pathogenic	X	100658873	100658873	TG	T	criteria provided, multiple submitters, no conflicts	-
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	-
Indel	NM_000169.3(GLA):c.164_171delinsTCTGCCTA (p.Asp55_Gln57delinsValCysLeu)	GLA	Pathogenic/Likely pathogenic	X	100662721	100662728	CTGGCAGT	TAGGCAGA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.95T>C (p.Leu32Pro)	GLA	Pathogenic/Likely pathogenic	X	100662797	100662797	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.109G>C (p.Ala37Pro)	GLA	Pathogenic/Likely pathogenic	X	100662783	100662783	C	G	criteria provided, multiple submitters, no conflicts	-