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_001171613.2(PREPL):c.1753+1G>T	PREPL	Pathogenic/Likely pathogenic	2	44549869	44549869	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000080.4(CHRNE):c.1319_1326+15del	CHRNE	Pathogenic/Likely pathogenic	17	4802281	4802303	CTGGCTCCTGTCCCACCTCGCCGG	C	criteria provided, multiple submitters, no conflicts	-