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.427G>C (p.Ala143Pro)	GLA	Pathogenic/Likely pathogenic	X	100656740	100656740	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA021721,UniProtKB:P06280#VAR_000453,OMIM:300644.0057
single nucleotide variant	NM_000169.3(GLA):c.666C>A (p.Tyr222Ter)	GLA	Pathogenic	X	100653908	100653908	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021952,OMIM:300644.0058
single nucleotide variant	NM_000169.3(GLA):c.1228A>G (p.Thr410Ala)	GLA	Pathogenic	X	100652859	100652859	T	C	criteria provided, single submitter	ClinGen:CA021462,UniProtKB:P06280#VAR_032293,OMIM:300644.0059
single nucleotide variant	NM_000169.3(GLA):c.815A>G (p.Asn272Ser)	GLA	Pathogenic/Likely pathogenic	X	100653542	100653542	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA022099,UniProtKB:P06280#VAR_032292,OMIM:300644.0062
single nucleotide variant	NM_000169.3(GLA):c.334C>T (p.Arg112Cys)	GLA	Pathogenic	X	100658834	100658834	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021639,UniProtKB:P06280#VAR_000447,OMIM:300644.0011,ClinVar:10723
single nucleotide variant	NM_000169.3(GLA):c.613C>A (p.Pro205Thr)	GLA	Pathogenic/Likely pathogenic	X	100655680	100655680	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021827,UniProtKB:P06280#VAR_000463
Insertion	NM_000169.3(GLA):c.1019_1020insA (p.Trp340Ter)	GLA	Pathogenic/Likely pathogenic	X	100653067	100653068	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA021286
single nucleotide variant	NM_000169.3(GLA):c.119C>G (p.Pro40Arg)	GLA	Likely pathogenic	X	100662773	100662773	G	C	criteria provided, single submitter	ClinGen:CA021455
single nucleotide variant	NM_000169.3(GLA):c.125T>C (p.Met42Thr)	GLA	Pathogenic	X	100662767	100662767	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA021500,UniProtKB:P06280#VAR_077372
single nucleotide variant	NM_000169.3(GLA):c.137A>T (p.His46Leu)	GLA	Pathogenic	X	100662755	100662755	T	A	criteria provided, single submitter	ClinGen:CA021538