ClinVar (all) for Orgtrack (Select 506822) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 599286	NM_005677.4(COLQ):c.588del (p.Gly198fs)	COLQ (G188fs +2 more)	Deletion (frameshift variant)	Congenital myasthenic syndrome 5	GPathogenic
Select item 599285	NM_005677.4(COLQ):c.1217G>C (p.Gly406Ala)	COLQ (G406A +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 599284	NM_005677.4(COLQ):c.220-1G>A	COLQ	Single nucleotide variant (intron variant +1 more)	Congenital myasthenic syndrome 5	GPathogenic

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