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.1117G>A (p.Gly373Ser)	GLA	Pathogenic/Likely pathogenic	X	100652970	100652970	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021403,UniProtKB:P06280#VAR_012437
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	-
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.1019G>A (p.Trp340Ter)	GLA	Pathogenic	X	100653068	100653068	C	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.847C>T (p.Gln283Ter)	GLA	Pathogenic	X	100653510	100653510	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA022122
single nucleotide variant	NM_000169.3(GLA):c.801G>A (p.Met267Ile)	GLA	Pathogenic	X	100653773	100653773	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA022081,UniProtKB:P06280#VAR_012419
single nucleotide variant	NM_000169.3(GLA):c.713G>A (p.Ser238Asn)	GLA	Pathogenic/Likely pathogenic	X	100653861	100653861	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021996
single nucleotide variant	NM_000169.3(GLA):c.548-1G>A	GLA	Pathogenic	X	100655746	100655746	C	T	criteria provided, single submitter	ClinGen:CA021785