"Baylor Genetics"[submitter] AND "NPRL2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442070	NM_006545.5(NPRL2):c.416T>G (p.Leu139Arg)	NPRL2 (L139R)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 2442080	NM_006545.5(NPRL2):c.260T>C (p.Phe87Ser)	NPRL2 (F87S)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic

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