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.1066C>T (p.Arg356Trp)	GLA	Pathogenic	X	100653021	100653021	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021340,UniProtKB:P06280#VAR_000488,OMIM:300644.0001
single nucleotide variant	NM_000169.3(GLA):c.902G>A (p.Arg301Gln)	GLA	Pathogenic	X	100653455	100653455	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA022189,UniProtKB:P06280#VAR_000481,OMIM:300644.0003
single nucleotide variant	NM_000169.3(GLA):c.886A>G (p.Met296Val)	GLA	Pathogenic/Likely pathogenic	X	100653471	100653471	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA022141,UniProtKB:P06280#VAR_000478,OMIM:300644.0005
single nucleotide variant	NM_000169.3(GLA):c.118C>T (p.Pro40Ser)	GLA	Pathogenic	X	100662774	100662774	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021436,UniProtKB:P06280#VAR_000434,OMIM:300644.0009
single nucleotide variant	NM_000169.3(GLA):c.835C>G (p.Gln279Glu)	GLA	Likely pathogenic	X	100653522	100653522	G	C	criteria provided, single submitter	ClinGen:CA022117,UniProtKB:P06280#VAR_000475,OMIM:300644.0008
single nucleotide variant	NM_000169.3(GLA):c.982G>A (p.Gly328Arg)	GLA	Pathogenic	X	100653375	100653375	C	T	criteria provided, single submitter	ClinGen:CA022255,UniProtKB:P06280#VAR_000485,OMIM:300644.0010
single nucleotide variant	NM_000169.3(GLA):c.101A>G (p.Asn34Ser)	GLA	Pathogenic	X	100662791	100662791	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA021300,UniProtKB:P06280#VAR_000432,OMIM:300644.0012
single nucleotide variant	NM_000169.3(GLA):c.484T>C (p.Trp162Arg)	GLA	Pathogenic/Likely pathogenic	X	100656683	100656683	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA021748,UniProtKB:P06280#VAR_000458,OMIM:300644.0016
single nucleotide variant	NM_000169.3(GLA):c.644A>G (p.Asn215Ser)	GLA	Pathogenic	X	100653930	100653930	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA021924,UniProtKB:P06280#VAR_000464,OMIM:300644.0018
single nucleotide variant	NM_000169.3(GLA):c.680G>A (p.Arg227Gln)	GLA	Pathogenic	X	100653894	100653894	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021972,UniProtKB:P06280#VAR_000467,OMIM:300644.0019