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_000334.4(SCN4A):c.2009C>A (p.Ser670Tyr)	SCN4A	Pathogenic	17	62036635	62036635	G	T	criteria provided, single submitter	-
Deletion	NM_014231.5(VAMP1):c.340del (p.Ile114fs)	VAMP1	Pathogenic/Likely pathogenic	12	6574056	6574056	CT	C	criteria provided, multiple submitters, no conflicts	OMIM:185880.0002
single nucleotide variant	NM_000080.4(CHRNE):c.799C>T (p.Gln267Ter)	CHRNE	Pathogenic	17	4804288	4804288	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000334.4(SCN4A):c.2874T>A (p.Tyr958Ter)	SCN4A	Likely pathogenic	17	62026868	62026868	A	T	criteria provided, single submitter	-
Deletion	NM_000080.4(CHRNE):c.1081_1099del (p.Glu361fs)	CHRNE	Pathogenic	17	4802613	4802631	GAGGCGGCCCGGGGGGCCTC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000334.4(SCN4A):c.2065C>T (p.Leu689Phe)	SCN4A	Likely pathogenic	17	62034833	62034833	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_005677.4(COLQ):c.279C>A (p.Cys93Ter)	COLQ	Pathogenic	3	15529755	15529755	G	T	criteria provided, single submitter	-
Deletion	NM_198576.4(AGRN):c.902_912del (p.Arg301fs)	AGRN	Pathogenic	1	976719	976729	TCCTGCGCCGCG	T	criteria provided, single submitter	-
Duplication	NM_198576.4(AGRN):c.1036_1039dup (p.Glu347fs)	AGRN	Pathogenic	1	976939	976940	G	GGCCC	criteria provided, single submitter	-
single nucleotide variant	NM_198576.4(AGRN):c.1275C>G (p.Tyr425Ter)	AGRN	Pathogenic	1	977433	977433	C	G	criteria provided, single submitter	-