C4225364[trait identifier] AND "Mendelics"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1685449	NM_130811.4(SNAP25):c.170T>C (p.Leu57Pro)	SNAP25 (L57P)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 18	GLikely pathogenic
Select item 803598	NM_130811.4(SNAP25):c.553G>C (p.Ala185Pro)	SNAP25 (A185P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GLikely pathogenic