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.974G>A (p.Gly325Asp)	GLA	Pathogenic	X	100653383	100653383	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA022237
Deletion	NM_000169.3(GLA):c.996_999del (p.Gln333fs)	GLA	Pathogenic	X	100653358	100653361	CCTGT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA022279
single nucleotide variant	NM_000169.3(GLA):c.386T>C (p.Leu129Pro)	GLA	Pathogenic/Likely pathogenic	X	100656781	100656781	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA021696
single nucleotide variant	NM_000169.3(GLA):c.658C>T (p.Arg220Ter)	GLA	Pathogenic	X	100653916	100653916	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021936
single nucleotide variant	NM_000169.3(GLA):c.1024C>G (p.Arg342Gly)	GLA	Likely pathogenic	X	100653063	100653063	G	C	criteria provided, single submitter	ClinGen:CA021314
single nucleotide variant	NM_001199973.2(RPL36A-HNRNPH2):c.300+3399C>T	GLA	Pathogenic	X	100653844	100653844	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA022025,UniProtKB:P06280#VAR_000469
single nucleotide variant	NM_001199973.2(RPL36A-HNRNPH2):c.300+2619T>G	GLA	Pathogenic	X	100653064	100653064	T	G	criteria provided, single submitter	ClinGen:CA273335
Deletion	NM_000169.3(GLA):c.802-3_802-2del	GLA	Pathogenic	X	100653557	100653558	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273338,LOVD 3:GLA_000607,OMIM:300644.0035
single nucleotide variant	NM_000169.3(GLA):c.802-2A>G	GLA	Pathogenic	X	100653557	100653557	T	C	criteria provided, single submitter	ClinGen:CA273339
Deletion	NM_000169.3(GLA):c.128del (p.Gly43fs)	GLA	Pathogenic/Likely pathogenic	X	100662764	100662764	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273346