"Revvity Omics, Revvity"[submitter] AND "NPRL2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434426	NM_006545.5(NPRL2):c.911A>C (p.Gln304Pro)	NPRL2 (Q304P)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 2434428	NM_006545.5(NPRL2):c.743C>T (p.Thr248Met)	NPRL2 (T248M)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 2434429	NM_006545.5(NPRL2):c.728A>G (p.Asn243Ser)	NPRL2 (N243S)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2 +1 more	GConflicting classifications of pathogenicity
Select item 2434425	NM_006545.5(NPRL2):c.684-12TC[3]	NPRL2	Microsatellite (intron variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 1251968	NM_006545.5(NPRL2):c.661C>T (p.Arg221Cys)	NPRL2 (R221C)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 2434427	NM_006545.5(NPRL2):c.158A>G (p.Lys53Arg)	NPRL2 (K53R)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance

ClinVar