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.979C>T (p.Gln327Ter)	GLA	Pathogenic	X	100653378	100653378	G	A	criteria provided, single submitter	ClinGen:CA10603787
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.422C>T (p.Thr141Ile)	GLA	Pathogenic/Likely pathogenic	X	100656745	100656745	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605161
single nucleotide variant	NM_000169.3(GLA):c.424T>C (p.Cys142Arg)	GLA	Pathogenic	X	100656743	100656743	A	G	criteria provided, single submitter	ClinGen:CA10605183,UniProtKB:P06280#VAR_012388
Deletion	NM_000169.3(GLA):c.1166del (p.Pro389fs)	GLA	Pathogenic	X	100652921	100652921	AG	A	criteria provided, single submitter	ClinGen:CA10605369
single nucleotide variant	NM_000169.3(GLA):c.999+2T>C	GLA	Pathogenic	X	100653356	100653356	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605590
single nucleotide variant	NM_000169.3(GLA):c.614C>T (p.Pro205Leu)	GLA	Likely pathogenic	X	100655679	100655679	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606043
single nucleotide variant	NM_000169.3(GLA):c.195-1G>T	GLA	Pathogenic	X	100658974	100658974	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606581
single nucleotide variant	NM_000169.3(GLA):c.285G>A (p.Trp95Ter)	GLA	Pathogenic	X	100658883	100658883	C	T	criteria provided, single submitter	ClinGen:CA10606705
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