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.1A>G (p.Met1Val)	GLA	Pathogenic/Likely pathogenic	X	100662891	100662891	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.2T>C (p.Met1Thr)	GLA	Pathogenic	X	100662890	100662890	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA413937947
single nucleotide variant	NM_000169.3(GLA):c.4C>T (p.Gln2Ter)	GLA	Pathogenic	X	100662888	100662888	G	A	criteria provided, single submitter	-
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
Deletion	NM_000169.3(GLA):c.26del (p.His9fs)	GLA	Pathogenic	X	100662866	100662866	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799820
Deletion	NM_000169.3(GLA):c.32del (p.Gly11fs)	GLA	Pathogenic	X	100662860	100662860	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.41T>C (p.Leu14Pro)	GLA	Likely pathogenic	X	100662851	100662851	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.44C>A (p.Ala15Glu)	GLA	Pathogenic	X	100662848	100662848	G	T	criteria provided, single submitter	-
Deletion	NM_000169.3(GLA):c.59_84del (p.Ala20fs)	GLA	Pathogenic	X	100662808	100662833	CCCCAGGGATGTCCCAGGAAACGAGGG	C	criteria provided, single submitter	ClinGen:CA658799819
single nucleotide variant	NM_000169.3(GLA):c.59C>A (p.Ala20Asp)	GLA	Likely pathogenic	X	100662833	100662833	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353016,UniProtKB:P06280#VAR_077367