C3809606[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1353146	NM_020988.3(GNAO1):c.479T>C (p.Leu160Pro)	GNAO1 (L160P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17 +2 more	GUncertain significance
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 211088	NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)	GNAO1 (A227V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17 +3 more	GPathogenic/Likely pathogenic
Select item 420523	NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys)	GNAO1 (E237K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17 +3 more	GPathogenic/Likely pathogenic
Select item 851622	NM_020988.3(GNAO1):c.856A>T (p.Ile286Phe)	GNAO1 (I286F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17 +2 more	GUncertain significance

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