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.704C>G (p.Ser235Cys)	GLA	Pathogenic/Likely pathogenic	X	100653870	100653870	G	C	criteria provided, multiple submitters, no conflicts	UniProtKB:P06280#VAR_012405,ClinGen:CA021984
single nucleotide variant	NM_000169.3(GLA):c.661C>T (p.Gln221Ter)	GLA	Pathogenic	X	100653913	100653913	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021941
single nucleotide variant	NM_000169.3(GLA):c.801+3A>G	GLA	Pathogenic	X	100653770	100653770	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA022074
single nucleotide variant	NM_000169.3(GLA):c.916C>T (p.Gln306Ter)	GLA	Pathogenic	X	100653441	100653441	G	A	criteria provided, single submitter	ClinGen:CA022196
single nucleotide variant	NM_000169.3(GLA):c.982G>C (p.Gly328Arg)	GLA	Pathogenic/Likely pathogenic	X	100653375	100653375	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA022260,UniProtKB:P06280#VAR_000485
Indel	NM_000169.3(GLA):c.879_880delinsAATC (p.Leu294fs)	GLA	Pathogenic	X	100653477	100653478	AA	GATT	criteria provided, single submitter	ClinGen:CA275336
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.1157A>C (p.Gln386Pro)	GLA	Pathogenic/Likely pathogenic	X	100652930	100652930	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA021426
single nucleotide variant	NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)	GLA	Pathogenic/Likely pathogenic	X	100653000	100653000	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021376
Deletion	NM_000169.3(GLA):c.1235_1236del (p.Thr412fs)	GLA	Pathogenic	X	100652851	100652852	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA021475