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.1095T>A (p.Tyr365Ter)	GLA	Pathogenic	X	100652992	100652992	A	T	criteria provided, single submitter	ClinGen:CA021385,OMIM:300644.0055
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
single nucleotide variant	NM_000169.3(GLA):c.1118G>A (p.Gly373Asp)	GLA	Pathogenic	X	100652969	100652969	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352566,UniProtKB:P06280#VAR_012436
Deletion	NM_000169.3(GLA):c.1125_1140del (p.Val376fs)	GLA	Pathogenic	X	100652947	100652962	CAGGATTACAGGCCACT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581189
single nucleotide variant	NM_000169.3(GLA):c.1156C>T (p.Gln386Ter)	GLA	Likely pathogenic	X	100652931	100652931	G	A	criteria provided, single submitter	-
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
Deletion	NM_000169.3(GLA):c.1166del (p.Pro389fs)	GLA	Pathogenic	X	100652921	100652921	AG	A	criteria provided, single submitter	ClinGen:CA10605369
Deletion	NM_000169.3(GLA):c.1188del (p.Tyr397fs)	GLA	Pathogenic	X	100652899	100652899	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584625
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
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