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.167G>A (p.Cys56Tyr)	GLA	Pathogenic/Likely pathogenic	X	100662725	100662725	C	T	criteria provided, multiple submitters, no conflicts	-
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.124A>G (p.Met42Val)	GLA	Pathogenic	X	100662768	100662768	T	C	criteria provided, multiple submitters, no conflicts	-
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	-
single nucleotide variant	NM_000169.3(GLA):c.44C>A (p.Ala15Glu)	GLA	Pathogenic	X	100662848	100662848	G	T	criteria provided, single submitter	-
Deletion	NM_000169.3(GLA):c.32del (p.Gly11fs)	GLA	Pathogenic	X	100662860	100662860	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.4C>T (p.Gln2Ter)	GLA	Pathogenic	X	100662888	100662888	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.1A>G (p.Met1Val)	GLA	Pathogenic/Likely pathogenic	X	100662891	100662891	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.1229C>T (p.Thr410Ile)	GLA	Likely pathogenic	X	100652858	100652858	G	A	criteria provided, single submitter	ClinGen:CA352414