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.137A>T (p.His46Leu)	GLA	Pathogenic	X	100662755	100662755	T	A	criteria provided, single submitter	ClinGen:CA021538
single nucleotide variant	NM_000169.3(GLA):c.141G>C (p.Trp47Cys)	GLA	Pathogenic	X	100662751	100662751	C	G	criteria provided, single submitter	ClinGen:CA413937045
single nucleotide variant	NM_000169.3(GLA):c.146G>C (p.Arg49Pro)	GLA	Likely pathogenic	X	100662746	100662746	C	G	criteria provided, single submitter	ClinGen:CA021552,UniProtKB:P06280#VAR_012370
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.154T>C (p.Cys52Arg)	GLA	Pathogenic	X	100662738	100662738	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609111
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.169C>T (p.Gln57Ter)	GLA	Pathogenic	X	100662723	100662723	G	A	criteria provided, single submitter	-
Indel	NM_000169.3(GLA):c.164_171delinsTCTGCCTA (p.Asp55_Gln57delinsValCysLeu)	GLA	Pathogenic/Likely pathogenic	X	100662721	100662728	CTGGCAGT	TAGGCAGA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000169.3(GLA):c.172del (p.Glu58fs)	GLA	Likely pathogenic	X	100662720	100662720	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.188G>A (p.Cys63Tyr)	GLA	Pathogenic	X	100662704	100662704	C	T	criteria provided, multiple submitters, no conflicts	-