C3280734[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 472761	NM_020361.5(CPA6):c.1271C>T (p.Ala424Val)	ARFGEF1-DT, CPA6 (A424V)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 5 +2 more	GUncertain significance
Select item 284180	NM_020361.5(CPA6):c.975A>G (p.Ala325=)	ARFGEF1-DT, CPA6	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 444757	NM_020361.5(CPA6):c.902C>T (p.Pro301Leu)	ARFGEF1-DT, CPA6 (P301L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 657933	NM_020361.5(CPA6):c.725G>T (p.Gly242Val)	ARFGEF1-DT, CPA6 (G242V)	Single nucleotide variant (missense variant)	Febrile seizures, familial, 11 +1 more	GUncertain significance
Select item 539978	NM_020361.5(CPA6):c.534+4A>G	CPA6	Single nucleotide variant (intron variant)	Febrile seizures, familial, 11 +1 more	GUncertain significance
Select item 965664	NM_020361.5(CPA6):c.382C>T (p.Arg128Ter)	CPA6 (R128*)	Single nucleotide variant (nonsense)	Familial temporal lobe epilepsy 5 +1 more	GUncertain significance
Select item 569405	NM_020361.5(CPA6):c.107G>T (p.Arg36Leu)	CPA6 (R36L)	Single nucleotide variant (missense variant)	Seizure +2 more	GUncertain significance

ClinVar