ファブリー病 - MGenReviews

ファブリー病

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.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.195-1G>C	GLA	Pathogenic	X	100658974	100658974	C	G	criteria provided, single submitter	ClinGen:CA021583
single nucleotide variant	NM_000169.3(GLA):c.19G>T (p.Glu7Ter)	GLA	Pathogenic	X	100662873	100662873	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021598
single nucleotide variant	NM_000169.3(GLA):c.242G>A (p.Trp81Ter)	GLA	Pathogenic	X	100658926	100658926	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021611
single nucleotide variant	NM_000169.3(GLA):c.281G>A (p.Cys94Tyr)	GLA	Pathogenic	X	100658887	100658887	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021617,UniProtKB:P06280#VAR_012380
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.509A>G (p.Asp170Gly)	GLA	Pathogenic	X	100656658	100656658	T	C	criteria provided, single submitter	ClinGen:CA021780
single nucleotide variant	NM_000169.3(GLA):c.548-2A>G	GLA	Pathogenic	X	100655747	100655747	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA021790
single nucleotide variant	NM_000169.3(GLA):c.548G>T (p.Gly183Val)	GLA	Pathogenic	X	100655745	100655745	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021796
Deletion	NM_000169.3(GLA):c.630del (p.Gln212fs)	GLA	Pathogenic	X	100655663	100655663	AG	A	criteria provided, single submitter	ClinGen:CA021864