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
Deletion	NM_000169.3(GLA):c.1023del (p.Glu341fs)	GLA	Pathogenic	X	100653064	100653064	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10607054
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.154T>C (p.Cys52Arg)	GLA	Pathogenic	X	100662738	100662738	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609111
single nucleotide variant	NM_000169.3(GLA):c.735G>A (p.Trp245Ter)	GLA	Pathogenic	X	100653839	100653839	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616625
single nucleotide variant	NM_000169.3(GLA):c.1241T>C (p.Leu414Ser)	GLA	Likely pathogenic	X	100652846	100652846	A	G	criteria provided, single submitter	ClinGen:CA16621160
single nucleotide variant	NM_000169.3(GLA):c.456C>A (p.Tyr152Ter)	GLA	Pathogenic	X	100656711	100656711	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA413929648
single nucleotide variant	NM_000169.3(GLA):c.476T>G (p.Phe159Cys)	GLA	Likely pathogenic	X	100656691	100656691	A	C	criteria provided, single submitter	ClinGen:CA413929340
single nucleotide variant	NM_000169.3(GLA):c.802-2A>T	GLA	Likely pathogenic	X	100653557	100653557	T	A	criteria provided, single submitter	ClinGen:CA413923565
single nucleotide variant	NM_000169.3(GLA):c.1225C>G (p.Pro409Ala)	GLA	Pathogenic	X	100652862	100652862	G	C	criteria provided, single submitter	ClinGen:CA413919170
single nucleotide variant	NM_000169.3(GLA):c.1021G>T (p.Glu341Ter)	GLA	Pathogenic	X	100653066	100653066	C	A	criteria provided, single submitter	ClinGen:CA413921209