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
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.2T>C (p.Met1Thr)	GLA	Pathogenic	X	100662890	100662890	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA413937947
Deletion	NM_000169.3(GLA):c.1055_1056del (p.Ala352fs)	GLA	Pathogenic	X	100653031	100653032	TAG	T	criteria provided, single submitter	ClinGen:CA658684321
single nucleotide variant	NM_000169.3(GLA):c.439G>A (p.Gly147Arg)	GLA	Pathogenic	X	100656728	100656728	C	T	criteria provided, single submitter	ClinGen:CA413929962
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
Deletion	NM_000169.3(GLA):c.265del (p.Leu89fs)	GLA	Pathogenic	X	100658903	100658903	AG	A	criteria provided, single submitter	ClinGen:CA517524207
single nucleotide variant	NM_000169.3(GLA):c.443G>A (p.Ser148Asn)	GLA	Pathogenic	X	100656724	100656724	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602201
single nucleotide variant	NM_000169.3(GLA):c.861G>T (p.Trp287Cys)	GLA	Pathogenic	X	100653496	100653496	C	A	criteria provided, single submitter	ClinGen:CA413922716
Deletion	NM_000169.3(GLA):c.59_84del (p.Ala20fs)	GLA	Pathogenic	X	100662808	100662833	CCCCAGGGATGTCCCAGGAAACGAGGG	C	criteria provided, single submitter	ClinGen:CA658799819
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