ClinVar (all) for Orgtrack (Select 508263) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1297749	NM_001077350.3(NPRL3):c.316C>T (p.Gln106Ter)	HBA-LCR, NPRL3 (Q106* +1 more)	Single nucleotide variant (nonsense +1 more)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 5066	NM_000777.5(CYP3A5):c.219-237A>G	CYP3A5, ZSCAN25	Single nucleotide variant (intron variant +1 more)	Hypertension, salt-sensitive essential, susceptibility to +2 more	Gassociation; drug response; risk factor