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.1246C>T (p.Gln416Ter)	GLA	Pathogenic	X	100652841	100652841	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.1244T>C (p.Leu415Pro)	GLA	Pathogenic	X	100652843	100652843	A	G	criteria provided, single submitter	ClinGen:CA352271
single nucleotide variant	NM_000169.3(GLA):c.1241T>C (p.Leu414Ser)	GLA	Likely pathogenic	X	100652846	100652846	A	G	criteria provided, single submitter	ClinGen:CA16621160
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
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.1229C>T (p.Thr410Ile)	GLA	Likely pathogenic	X	100652858	100652858	G	A	criteria provided, single submitter	ClinGen:CA352414
single nucleotide variant	NM_000169.3(GLA):c.1228A>G (p.Thr410Ala)	GLA	Pathogenic	X	100652859	100652859	T	C	criteria provided, single submitter	ClinGen:CA021462,UniProtKB:P06280#VAR_032293,OMIM:300644.0059
single nucleotide variant	NM_000169.3(GLA):c.1225C>T (p.Pro409Ser)	GLA	Pathogenic/Likely pathogenic	X	100652862	100652862	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583928
single nucleotide variant	NM_000169.3(GLA):c.1225C>G (p.Pro409Ala)	GLA	Pathogenic	X	100652862	100652862	G	C	criteria provided, single submitter	ClinGen:CA413919170
single nucleotide variant	NM_000169.3(GLA):c.1192G>T (p.Glu398Ter)	GLA	Pathogenic	X	100652895	100652895	C	A	criteria provided, single submitter	ClinGen:CA021448,OMIM:300644.0033