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.870G>A (p.Met290Ile)	GLA	Pathogenic	X	100653487	100653487	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.826A>G (p.Ser276Gly)	GLA	Pathogenic	X	100653531	100653531	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.818T>C (p.Phe273Ser)	GLA	Likely pathogenic	X	100653539	100653539	A	G	criteria provided, single submitter	-
Deletion	NM_001199973.2(RPL36A-HNRNPH2):c.300+3109_300+3112del	GLA	Pathogenic	X	100653551	100653554	CACTA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.805G>A (p.Val269Met)	GLA	Pathogenic	X	100653552	100653552	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352656
single nucleotide variant	NM_000169.3(GLA):c.796G>A (p.Asp266Asn)	GLA	Pathogenic	X	100653778	100653778	C	T	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.790G>T (p.Asp264Tyr)	GLA	Pathogenic	X	100653784	100653784	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352389
single nucleotide variant	NM_000169.3(GLA):c.788A>G (p.Asn263Ser)	GLA	Pathogenic	X	100653786	100653786	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.785G>A (p.Trp262Ter)	GLA	Pathogenic	X	100653789	100653789	C	T	criteria provided, single submitter	ClinGen:CA352522