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.835C>G (p.Gln279Glu)	GLA	Likely pathogenic	X	100653522	100653522	G	C	criteria provided, single submitter	ClinGen:CA022117,UniProtKB:P06280#VAR_000475,OMIM:300644.0008
single nucleotide variant	NM_000169.3(GLA):c.119C>G (p.Pro40Arg)	GLA	Likely pathogenic	X	100662773	100662773	G	C	criteria provided, single submitter	ClinGen:CA021455
single nucleotide variant	NM_000169.3(GLA):c.146G>C (p.Arg49Pro)	GLA	Likely pathogenic	X	100662746	100662746	C	G	criteria provided, single submitter	ClinGen:CA021552,UniProtKB:P06280#VAR_012370
single nucleotide variant	NM_000169.3(GLA):c.335G>T (p.Arg112Leu)	GLA	Likely pathogenic	X	100658833	100658833	C	A	criteria provided, single submitter	ClinGen:CA021652
single nucleotide variant	NM_000169.3(GLA):c.823C>T (p.Leu275Phe)	GLA	Likely pathogenic	X	100653534	100653534	G	A	criteria provided, single submitter	ClinGen:CA022106
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
Indel	NM_000169.3(GLA):c.802-3_804delinsGGCAACTTT	GLA	Likely pathogenic	X	100653553	100653558	TAACTG	AAAGTTGCC	criteria provided, single submitter	ClinGen:CA273610
single nucleotide variant	NM_000169.3(GLA):c.1229C>A (p.Thr410Lys)	GLA	Likely pathogenic	X	100652858	100652858	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.961C>G (p.Gln321Glu)	GLA	Likely pathogenic	X	100653396	100653396	G	C	criteria provided, single submitter	UniProtKB:P06280#VAR_012432
single nucleotide variant	NM_000169.3(GLA):c.41T>C (p.Leu14Pro)	GLA	Likely pathogenic	X	100662851	100662851	A	G	criteria provided, multiple submitters, no conflicts	-