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.1079G>A (p.Gly360Asp)	GLA	Likely pathogenic	X	100653008	100653008	C	T	criteria provided, single submitter	-
Deletion	NM_000169.3(GLA):c.1077del (p.Ile359fs)	GLA	Pathogenic	X	100653010	100653010	CA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000169.3(GLA):c.1072_1074del (p.Glu358del)	GLA	Pathogenic/Likely pathogenic	X	100653013	100653015	TCTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021346
single nucleotide variant	NM_000169.3(GLA):c.1072G>A (p.Glu358Lys)	GLA	Pathogenic	X	100653015	100653015	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021353,UniProtKB:P06280#VAR_000489
single nucleotide variant	NM_000169.3(GLA):c.1069C>T (p.Gln357Ter)	GLA	Pathogenic	X	100653018	100653018	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.1066C>T (p.Arg356Trp)	GLA	Pathogenic	X	100653021	100653021	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021340,UniProtKB:P06280#VAR_000488,OMIM:300644.0001
Deletion	NM_000169.3(GLA):c.1062_1076del (p.Asn355_Ile359del)	GLA	Likely pathogenic	X	100653011	100653025	AATCTCCTGCCGGTTT	A	criteria provided, single submitter	-
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
Deletion	NM_000169.3(GLA):c.1055_1056del (p.Ala352fs)	GLA	Pathogenic	X	100653031	100653032	TAG	T	criteria provided, single submitter	ClinGen:CA658684321
Deletion	NM_000169.3(GLA):c.1037del (p.Gly346fs)	GLA	Pathogenic	X	100653050	100653050	GC	G	criteria provided, single submitter	ClinGen:CA10584627