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.119C>T (p.Pro40Leu)	GLA	Pathogenic/Likely pathogenic	X	100662773	100662773	G	A	criteria provided, multiple submitters, no conflicts	-
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.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.124A>C (p.Met42Leu)	GLA	Pathogenic/Likely pathogenic	X	100662768	100662768	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA021494,UniProtKB:P06280#VAR_062551
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.126G>C (p.Met42Ile)	GLA	Pathogenic	X	100662766	100662766	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.127G>A (p.Gly43Ser)	GLA	Likely pathogenic	X	100662765	100662765	C	T	criteria provided, single submitter	ClinGen:CA10606899
Deletion	NM_000169.3(GLA):c.128del (p.Gly43fs)	GLA	Pathogenic/Likely pathogenic	X	100662764	100662764	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273346
single nucleotide variant	NM_000169.3(GLA):c.132G>A (p.Trp44Ter)	GLA	Pathogenic	X	100662760	100662760	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.137A>G (p.His46Arg)	GLA	Pathogenic/Likely pathogenic	X	100662755	100662755	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA021532,UniProtKB:P06280#VAR_012367