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.167G>A (p.Cys56Tyr)	GLA	Pathogenic/Likely pathogenic	X	100662725	100662725	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.605G>A (p.Cys202Tyr)	GLA	Pathogenic/Likely pathogenic	X	100655688	100655688	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352703,UniProtKB:P06280#VAR_012398
single nucleotide variant	NM_000169.3(GLA):c.668G>A (p.Cys223Tyr)	GLA	Pathogenic/Likely pathogenic	X	100653906	100653906	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.782G>T (p.Gly261Val)	GLA	Pathogenic/Likely pathogenic	X	100653792	100653792	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)	GLA	Pathogenic/Likely pathogenic	X	100653000	100653000	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021376
single nucleotide variant	NM_000169.3(GLA):c.1157A>C (p.Gln386Pro)	GLA	Pathogenic/Likely pathogenic	X	100652930	100652930	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA021426
single nucleotide variant	NM_000169.3(GLA):c.982G>C (p.Gly328Arg)	GLA	Pathogenic/Likely pathogenic	X	100653375	100653375	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA022260,UniProtKB:P06280#VAR_000485
single nucleotide variant	NM_000169.3(GLA):c.704C>G (p.Ser235Cys)	GLA	Pathogenic/Likely pathogenic	X	100653870	100653870	G	C	criteria provided, multiple submitters, no conflicts	UniProtKB:P06280#VAR_012405,ClinGen:CA021984
single nucleotide variant	NM_000169.3(GLA):c.137A>G (p.His46Arg)	GLA	Pathogenic/Likely pathogenic	X	100662755	100662755	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA021532,UniProtKB:P06280#VAR_012367
single nucleotide variant	NM_000169.3(GLA):c.124A>C (p.Met42Leu)	GLA	Pathogenic/Likely pathogenic	X	100662768	100662768	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA021494,UniProtKB:P06280#VAR_062551