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_000751.3(CHRND):c.933-2A>G	CHRND	Likely pathogenic	2	233396250	233396250	A	G	criteria provided, single submitter	ClinGen:CA16617496
single nucleotide variant	NM_000751.3(CHRND):c.1385G>T (p.Trp462Leu)	CHRND	Likely pathogenic	2	233399853	233399853	G	T	criteria provided, single submitter	ClinGen:CA16043388