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.1018T>C (p.Trp340Arg)	GLA	Pathogenic/Likely pathogenic	X	100653069	100653069	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.708G>T (p.Trp236Cys)	GLA	Pathogenic/Likely pathogenic	X	100653866	100653866	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA413924684
single nucleotide variant	NM_000169.3(GLA):c.394G>A (p.Gly132Arg)	GLA	Pathogenic/Likely pathogenic	X	100656773	100656773	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA413930675
Duplication	NM_000169.3(GLA):c.59_72dup (p.Asp25fs)	GLA	Pathogenic/Likely pathogenic	X	100662819	100662820	C	CCCAGGAAACGAGGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684326
Duplication	NM_000169.3(GLA):c.848dup (p.Met284fs)	GLA	Pathogenic/Likely pathogenic	X	100653508	100653509	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684325
single nucleotide variant	NM_000169.3(GLA):c.422C>T (p.Thr141Ile)	GLA	Pathogenic/Likely pathogenic	X	100656745	100656745	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605161
Deletion	NM_000169.3(GLA):c.1057_1058del (p.Met353fs)	GLA	Pathogenic/Likely pathogenic	X	100653029	100653030	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604810
single nucleotide variant	NM_000169.3(GLA):c.274G>T (p.Asp92Tyr)	GLA	Pathogenic/Likely pathogenic	X	100658894	100658894	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603399,UniProtKB:P06280#VAR_012377
single nucleotide variant	NM_000169.3(GLA):c.1225C>T (p.Pro409Ser)	GLA	Pathogenic/Likely pathogenic	X	100652862	100652862	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583928
single nucleotide variant	NM_000169.3(GLA):c.1A>G (p.Met1Val)	GLA	Pathogenic/Likely pathogenic	X	100662891	100662891	T	C	criteria provided, multiple submitters, no conflicts	-