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.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.776C>G (p.Pro259Arg)	GLA	Pathogenic	X	100653798	100653798	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA352614
single nucleotide variant	NM_000169.3(GLA):c.749A>C (p.Gln250Pro)	GLA	Likely pathogenic	X	100653825	100653825	T	G	criteria provided, single submitter	ClinGen:CA352896
Duplication	NM_000169.3(GLA):c.723dup (p.Ile242fs)	GLA	Pathogenic	X	100653850	100653851	T	TA	criteria provided, single submitter	-
Deletion	NM_000169.3(GLA):c.718_719del (p.Lys240fs)	GLA	Pathogenic	X	100653855	100653856	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA352644
single nucleotide variant	NM_000169.3(GLA):c.671A>G (p.Asn224Ser)	GLA	Pathogenic	X	100653903	100653903	T	C	criteria provided, multiple submitters, no conflicts	-
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.611G>A (p.Trp204Ter)	GLA	Pathogenic	X	100655682	100655682	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.559A>G (p.Met187Val)	GLA	Likely pathogenic	X	100655734	100655734	T	C	criteria provided, multiple submitters, no conflicts	-