"Baylor Genetics"[submitter] AND "ADCY5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 706217	NM_183357.3(ADCY5):c.2866G>A (p.Asp956Asn)	ADCY5 (D606N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1030392	NM_183357.3(ADCY5):c.2443-14T>A	ADCY5	Single nucleotide variant (intron variant)	Dyskinesia with orofacial involvement, autosomal dominant	GUncertain significance
Select item 162090	NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp)	ADCY5 (R418W +1 more)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant +2 more	GPathogenic
Select item 1030446	NM_183357.3(ADCY5):c.503G>A (p.Arg168His)	ADCY5 (R168H)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GUncertain significance
Select item 1031781	NM_183357.3(ADCY5):c.400G>A (p.Gly134Ser)	ADCY5 (G134S)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant +4 more	GConflicting classifications of pathogenicity
Select item 1031780	NM_183357.3(ADCY5):c.395C>G (p.Pro132Arg)	ADCY5 (P132R)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GUncertain significance

ClinVar