先天性筋無力症候群

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_002334.4(LRP4):c.2866G>T (p.Glu956Ter)	LRP4	Pathogenic	11	46900815	46900815	C	A	criteria provided, single submitter	-
Duplication	NM_000080.4(CHRNE):c.848_852dup (p.Val285fs)	CHRNE	Pathogenic	17	4804152	4804153	C	CGGTCT	criteria provided, single submitter	-
Deletion	NM_000080.4(CHRNE):c.794del (p.Pro265fs)	CHRNE	Pathogenic	17	4804293	4804293	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000334.4(SCN4A):c.3929T>A (p.Ile1310Asn)	SCN4A	Pathogenic/Likely pathogenic	17	62021194	62021194	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000334.4(SCN4A):c.4372G>T (p.Val1458Phe)	SCN4A	Pathogenic/Likely pathogenic	17	62019270	62019270	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005984.5(SLC25A1):c.740G>A (p.Arg247Gln)	SLC25A1	Pathogenic	22	19164098	19164098	C	T	criteria provided, single submitter	OMIM:190315.0007
Deletion	NM_000334.4(SCN4A):c.1173del (p.Phe392fs)	SCN4A	Pathogenic/Likely pathogenic	17	62043531	62043531	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005677.4(COLQ):c.1217G>C (p.Gly406Ala)	COLQ	Likely pathogenic	3	15495417	15495417	C	G	criteria provided, single submitter	-
Deletion	NM_005677.4(COLQ):c.588del (p.Gly198fs)	COLQ	Pathogenic	3	15515747	15515747	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005677.4(COLQ):c.220-1G>A	COLQ	Pathogenic	3	15529815	15529815	C	T	criteria provided, single submitter	-