ClinVar for MedGen (Select 320251) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523529	NM_020549.5(CHAT):c.2081C>G (p.Ser694Cys)	CHAT (S576C +2 more)	Single nucleotide variant (missense variant)	Gastroesophageal reflux +11 more	GPathogenic
Select item 523528	NM_020549.5(CHAT):c.1061C>T (p.Thr354Met)	CHAT (T236M +2 more)	Single nucleotide variant (missense variant)	Aspiration pneumonia +11 more	GPathogenic/Likely pathogenic