C4479569[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 66113	NM_020988.3(GNAO1):c.521A>G (p.Asp174Gly)	GNAO1 (D174G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements +1 more	GPathogenic
Select item 66115	NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)	GNAO1 (G203R)	Single nucleotide variant (missense variant)	GNAO1-Related Condition +5 more	GPathogenic
Select item 427726	NM_020988.3(GNAO1):c.625C>G (p.Arg209Gly)	GNAO1 (R209G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements	GPathogenic
Select item 265350	NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys)	GNAO1 (R209C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements +5 more	GPathogenic
Select item 208677	NM_020988.3(GNAO1):c.626G>A (p.Arg209His)	GNAO1 (R209H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements +3 more	GPathogenic
Select item 208777	NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys)	GNAO1 (E246K)	Single nucleotide variant (missense variant)	GNAO1-related developmental delay-seizures-movement disorder spectrum +6 more	GPathogenic
Select item 427730	NM_020988.3(GNAO1):c.737A>G (p.Glu246Gly)	GNAO1 (E246G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements	GPathogenic

ClinVar