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_000747.3(CHRNB1):c.354-1G>A	CHRNB1	Likely pathogenic	17	7350361	7350361	G	A	criteria provided, single submitter	-
Deletion	NM_000079.4(CHRNA1):c.380_381del (p.Lys127fs)	CHRNA1	Likely pathogenic	2	175619106	175619107	CTT	C	criteria provided, single submitter	-