"OMIM"[submitter] AND "HBA-LCR"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 254359	NM_001077350.3(NPRL3):c.1375_1376dup (p.Ser460fs)	HBA-LCR, NPRL3 (S460fs +3 more)	Duplication (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 254358	NM_001077350.3(NPRL3):c.1352-4_1352-1delinsTGACCCATCC	HBA-LCR, NPRL3	Indel (splice acceptor variant)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 254360	NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter)	HBA-LCR, NPRL3 (R424* +3 more)	Single nucleotide variant (nonsense)	Epilepsy, familial focal, with variable foci 3 +1 more	GPathogenic/Likely pathogenic
Select item 254361	NM_001077350.3(NPRL3):c.1070del (p.Pro357fs)	HBA-LCR, NPRL3 (P279fs +3 more)	Deletion (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 254357	NM_001077350.3(NPRL3):c.835dup (p.Ser279fs)	NPRL3, HBA-LCR (S100fs +3 more)	Duplication (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 861113	NM_001077350.3(NPRL3):c.349del (p.Glu117fs)	HBA-LCR, NPRL3 (E117fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic

ClinVar