ClinVar for MedGen (Select 199759) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 694272	NM_000751.3(CHRND):c.880C>T (p.Leu294Phe)	CHRND (L279F +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 431713	NM_000079.4(CHRNA1):c.424G>A (p.Ala142Thr)	CHRNA1 (A142T +1 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, slow-channel congenital	GUncertain significance
Select item 243030	NM_000080.4(CHRNE):c.130dup (p.Glu44fs)	C17orf107, CHRNE (E44fs)	Duplication (frameshift variant +1 more)	Congenital myasthenic syndrome +6 more	GPathogenic
Select item 135655	NM_000079.4(CHRNA1):c.737C>T (p.Ser246Phe)	CHRNA1 (S271F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 135654	NM_000079.4(CHRNA1):c.737C>A (p.Ser246Tyr)	CHRNA1 (S271Y +1 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, slow-channel congenital	GPathogenic
Select item 6654	NM_005677.4(COLQ):c.1289A>C (p.Tyr430Ser)	COLQ (Y430S +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome +2 more	GPathogenic

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