"Baylor Genetics"[submitter] AND "HBA-LCR"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 476217	NM_001077350.3(NPRL3):c.1243T>C (p.Ser415Pro)	HBA-LCR, NPRL3 (S390P +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 1012387	NM_001077350.3(NPRL3):c.189-1G>A	HBA-LCR, NPRL3	Single nucleotide variant (splice acceptor variant +1 more)	Epilepsy, familial focal, with variable foci 3 +1 more	GPathogenic