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.610T>C (p.Trp204Arg)	GLA	Likely pathogenic	X	100655683	100655683	A	G	criteria provided, multiple submitters, no conflicts	UniProtKB:P06280#VAR_077391,ClinGen:CA353155
single nucleotide variant	NM_000169.3(GLA):c.540G>T (p.Leu180Phe)	GLA	Likely pathogenic	X	100656627	100656627	C	A	criteria provided, single submitter	ClinGen:CA353207,UniProtKB:P06280#VAR_077387
single nucleotide variant	NM_000169.3(GLA):c.62T>C (p.Leu21Pro)	GLA	Likely pathogenic	X	100662830	100662830	A	G	criteria provided, single submitter	ClinGen:CA353214,UniProtKB:P06280#VAR_077368
single nucleotide variant	NM_000169.3(GLA):c.59C>A (p.Ala20Asp)	GLA	Likely pathogenic	X	100662833	100662833	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353016,UniProtKB:P06280#VAR_077367
single nucleotide variant	NM_000169.3(GLA):c.1246C>T (p.Gln416Ter)	GLA	Pathogenic	X	100652841	100652841	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.1244T>C (p.Leu415Pro)	GLA	Pathogenic	X	100652843	100652843	A	G	criteria provided, single submitter	ClinGen:CA352271
single nucleotide variant	NM_000169.3(GLA):c.1156C>T (p.Gln386Ter)	GLA	Likely pathogenic	X	100652931	100652931	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.1118G>A (p.Gly373Asp)	GLA	Pathogenic	X	100652969	100652969	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352566,UniProtKB:P06280#VAR_012436
single nucleotide variant	NM_000169.3(GLA):c.1079G>A (p.Gly360Asp)	GLA	Likely pathogenic	X	100653008	100653008	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.1069C>T (p.Gln357Ter)	GLA	Pathogenic	X	100653018	100653018	G	A	criteria provided, single submitter	-