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.195-1G>T	GLA	Pathogenic	X	100658974	100658974	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606581
single nucleotide variant	NM_000169.3(GLA):c.195-1G>C	GLA	Pathogenic	X	100658974	100658974	C	G	criteria provided, single submitter	ClinGen:CA021583
single nucleotide variant	NM_000169.3(GLA):c.235G>T (p.Glu79Ter)	GLA	Pathogenic	X	100658933	100658933	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.242G>A (p.Trp81Ter)	GLA	Pathogenic	X	100658926	100658926	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021611
single nucleotide variant	NM_000169.3(GLA):c.244A>T (p.Lys82Ter)	GLA	Likely pathogenic	X	100658924	100658924	T	A	criteria provided, single submitter	ClinGen:CA16042047
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	-
Deletion	NM_000169.3(GLA):c.265del (p.Leu89fs)	GLA	Pathogenic	X	100658903	100658903	AG	A	criteria provided, single submitter	ClinGen:CA517524207
single nucleotide variant	NM_000169.3(GLA):c.266T>G (p.Leu89Arg)	GLA	Likely pathogenic	X	100658902	100658902	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.272T>C (p.Ile91Thr)	GLA	Pathogenic	X	100658896	100658896	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.274G>A (p.Asp92Asn)	GLA	Pathogenic	X	100658894	100658894	C	T	criteria provided, single submitter	ClinGen:CA16616754