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.871G>A (p.Ala291Thr)	GLA	Likely pathogenic	X	100653486	100653486	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.818T>C (p.Phe273Ser)	GLA	Likely pathogenic	X	100653539	100653539	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.793C>T (p.Pro265Ser)	GLA	Likely pathogenic	X	100653781	100653781	G	A	criteria provided, single submitter	-
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
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	-
single nucleotide variant	NM_000169.3(GLA):c.511G>A (p.Gly171Ser)	GLA	Likely pathogenic	X	100656656	100656656	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000169.3(GLA):c.172del (p.Glu58fs)	GLA	Likely pathogenic	X	100662720	100662720	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.153G>T (p.Met51Ile)	GLA	Likely pathogenic	X	100662739	100662739	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.109G>A (p.Ala37Thr)	GLA	Likely pathogenic	X	100662783	100662783	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.92C>T (p.Ala31Val)	GLA	Likely pathogenic	X	100662800	100662800	G	A	criteria provided, single submitter	-