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.370-2A>G	GLA	Pathogenic	X	100656799	100656799	T	C	criteria provided, single submitter	ClinGen:CA021685
single nucleotide variant	NM_000169.3(GLA):c.235G>T (p.Glu79Ter)	GLA	Pathogenic	X	100658933	100658933	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000169.3(GLA):c.80del (p.Pro27fs)	GLA	Pathogenic	X	100662812	100662812	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA022094
single nucleotide variant	NM_000169.3(GLA):c.41T>C (p.Leu14Pro)	GLA	Likely pathogenic	X	100662851	100662851	A	G	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.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
single nucleotide variant	NM_000169.3(GLA):c.369+1G>A	GLA	Pathogenic	X	100658798	100658798	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021668
single nucleotide variant	NM_000169.3(GLA):c.469C>T (p.Gln157Ter)	GLA	Pathogenic	X	100656698	100656698	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021741
single nucleotide variant	NM_000169.3(GLA):c.485G>A (p.Trp162Ter)	GLA	Pathogenic	X	100656682	100656682	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021753
single nucleotide variant	NM_000169.3(GLA):c.620A>G (p.Tyr207Cys)	GLA	Pathogenic	X	100655673	100655673	T	C	criteria provided, single submitter	ClinGen:CA021845