"Genome-Nilou Lab"[submitter] AND "CHRNE"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 323974	NM_000080.4(CHRNE):c.*65C>T	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4B +4 more	GBenign
Select item 323975	NM_000080.4(CHRNE):c.*61C>T	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4B +4 more	GBenign
Select item 128764	NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu)	CHRNE (V468L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A +5 more	GBenign/Likely benign
Select item 128762	NM_000080.4(CHRNE):c.1293C>T (p.Ala431=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A +5 more	GBenign
Select item 254891	NM_000080.4(CHRNE):c.1220-45C>T	CHRNE, LOC130060040	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A +4 more	GBenign/Likely benign
Select item 128761	NM_000080.4(CHRNE):c.1033-6C>T	CHRNE, LOC130060041	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A +5 more	GBenign
Select item 254903	NM_000080.4(CHRNE):c.917+15C>G	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +5 more	GBenign
Select item 679148	NM_000080.4(CHRNE):c.46+64G>A	C17orf107, CHRNE	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A +3 more	GBenign

ClinVar