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
Deletion	NM_000169.3(GLA):c.823del (p.Leu275fs)	GLA	Likely pathogenic	X	100653534	100653534	AG	A	criteria provided, single submitter	ClinGen:CA352417
Deletion	NM_000169.3(GLA):c.1125_1140del (p.Val376fs)	GLA	Pathogenic	X	100652947	100652962	CAGGATTACAGGCCACT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581189
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
Deletion	NM_000169.3(GLA):c.1188del (p.Tyr397fs)	GLA	Pathogenic	X	100652899	100652899	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584625
single nucleotide variant	NM_000169.3(GLA):c.1081G>A (p.Gly361Arg)	GLA	Pathogenic	X	100653006	100653006	C	T	criteria provided, single submitter	ClinGen:CA10584626,UniProtKB:P06280#VAR_000491
Deletion	NM_000169.3(GLA):c.1037del (p.Gly346fs)	GLA	Pathogenic	X	100653050	100653050	GC	G	criteria provided, single submitter	ClinGen:CA10584627
single nucleotide variant	NM_000169.3(GLA):c.707G>A (p.Trp236Ter)	GLA	Pathogenic	X	100653867	100653867	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584628
Duplication	NM_000169.3(GLA):c.295dup (p.Gln99fs)	GLA	Pathogenic	X	100658872	100658873	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587959
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.830G>A (p.Trp277Ter)	GLA	Pathogenic	X	100653527	100653527	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603765