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.640-1G>T	GLA	Pathogenic	X	100653935	100653935	C	A	criteria provided, single submitter	ClinGen:CA021898
single nucleotide variant	NM_000169.3(GLA):c.647A>G (p.Tyr216Cys)	GLA	Pathogenic	X	100653927	100653927	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA021931
Deletion	NM_000169.3(GLA):c.662_663del (p.Gln221fs)	GLA	Pathogenic	X	100653911	100653912	ACT	A	criteria provided, single submitter	ClinGen:CA021946
single nucleotide variant	NM_000169.3(GLA):c.677G>A (p.Trp226Ter)	GLA	Pathogenic	X	100653897	100653897	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021958
single nucleotide variant	NM_000169.3(GLA):c.734G>A (p.Trp245Ter)	GLA	Pathogenic	X	100653840	100653840	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA022030
single nucleotide variant	NM_000169.3(GLA):c.748C>T (p.Gln250Ter)	GLA	Pathogenic	X	100653826	100653826	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA022045
single nucleotide variant	NM_000169.3(GLA):c.823C>T (p.Leu275Phe)	GLA	Likely pathogenic	X	100653534	100653534	G	A	criteria provided, single submitter	ClinGen:CA022106
single nucleotide variant	NM_000169.3(GLA):c.865A>T (p.Ile289Phe)	GLA	Pathogenic/Likely pathogenic	X	100653492	100653492	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA022134,UniProtKB:P06280#VAR_012424
single nucleotide variant	NM_000169.3(GLA):c.901C>T (p.Arg301Ter)	GLA	Pathogenic	X	100653456	100653456	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA022184
single nucleotide variant	NM_000169.3(GLA):c.966C>G (p.Asp322Glu)	GLA	Pathogenic	X	100653391	100653391	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA022225