"Revvity Omics, Revvity"[submitter] AND "NPRL3"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 842666	NM_001077350.3(NPRL3):c.1180GTG[1] (p.Val395del)	HBA-LCR, NPRL3 (V370del +3 more)	Microsatellite (inframe_deletion)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1324819	NM_001077350.3(NPRL3):c.1162-2A>G	HBA-LCR, NPRL3	Single nucleotide variant (splice acceptor variant)	Epilepsy, familial focal, with variable foci 3	GPathogenic/Likely pathogenic
Select item 944482	NM_001077350.3(NPRL3):c.638C>T (p.Thr213Met)	HBA-LCR, NPRL3 (T34M +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 2091354	NM_001077350.3(NPRL3):c.529G>T (p.Val177Leu)	HBA-LCR, NPRL3 (V177L +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1323374	NM_001077350.3(NPRL3):c.419dup (p.Asn140fs)	HBA-LCR, NPRL3 (N115fs +2 more)	Duplication (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 582124	NM_001077350.3(NPRL3):c.275G>A (p.Arg92Gln)	HBA-LCR, NPRL3 (R92Q +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 3 +2 more	GUncertain significance
Select item 969542	NM_001077350.3(NPRL3):c.181G>A (p.Asp61Asn)	HBA-LCR, NPRL3 (D61N)	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2069719	NM_001077350.3(NPRL3):c.11A>C (p.Asn4Thr)	HBA-LCR, NPRL3 (N4T)	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3	GUncertain significance