C3553645[trait identifier] AND "Laboratory of Medical Genetics, Nation - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299537	NM_001382.4(DPAGT1):c.1097T>C (p.Leu366Ser)	DPAGT1 (L366S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13	GLikely pathogenic
Select item 572825	NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys)	DPAGT1 (R121C)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GConflicting classifications of pathogenicity