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_198576.4(AGRN):c.226G>A (p.Gly76Ser)	AGRN	Likely pathogenic	1	957605	957605	G	A	criteria provided, single submitter	ClinGen:CA507784
single nucleotide variant	NM_198576.4(AGRN):c.5179G>T (p.Val1727Phe)	AGRN	Likely pathogenic	1	986143	986143	G	T	criteria provided, single submitter	ClinGen:CA151196,OMIM:103320.0002