C4310708[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285410	NM_001077350.3(NPRL3):c.1287del (p.Phe430fs)	HBA-LCR, NPRL3 (F251fs +3 more)	Deletion (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GLikely pathogenic
Select item 982941	NM_001077350.3(NPRL3):c.1062C>A (p.His354Gln)	HBA-LCR, NPRL3 (H175Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 847490	NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu)	HBA-LCR, NPRL3 (P302L +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GConflicting classifications of pathogenicity
Select item 1325822	NM_001077350.3(NPRL3):c.922C>T (p.Gln308Ter)	HBA-LCR, NPRL3 (Q129* +3 more)	Single nucleotide variant (nonsense)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 983137	NM_001077350.3(NPRL3):c.768-2del	HBA-LCR, NPRL3	Deletion (splice acceptor variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2578437	NM_001077350.3(NPRL3):c.736_737insTTTC (p.Glu246fs)	HBA-LCR, NPRL3 (E168fs +3 more)	Insertion (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GLikely pathogenic
Select item 976382	NM_001077350.3(NPRL3):c.630-1G>A	HBA-LCR, NPRL3	Single nucleotide variant (splice acceptor variant)	Epilepsy, familial focal, with variable foci 3	GLikely pathogenic
Select item 1804128	NM_001077350.3(NPRL3):c.563dup (p.Ser189fs)	HBA-LCR, NPRL3 (S10fs +3 more)	Duplication (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GLikely pathogenic
Select item 976437	NM_001077350.3(NPRL3):c.547+1G>C	NPRL3, HBA-LCR	Single nucleotide variant (splice donor variant)	Epilepsy, familial focal, with variable foci 3	GLikely pathogenic
Select item 976081	NM_001077350.3(NPRL3):c.434T>C (p.Leu145Pro)	HBA-LCR, NPRL3 (L120P +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3	GConflicting classifications of pathogenicity
Select item 577957	NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs)	HBA-LCR, NPRL3 (L117fs +2 more)	Deletion (5 prime UTR variant +1 more)	Intellectual disability +1 more	GPathogenic/Likely pathogenic
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
Select item 1465304	NM_001077350.3(NPRL3):c.119-1G>C	HBA-LCR, NPRL3	Single nucleotide variant (splice acceptor variant)	Epilepsy, familial focal, with variable foci 3	GPathogenic/Likely pathogenic
Select item 643953	NM_001077350.3(NPRL3):c.118+3_118+6del	HBA-LCR, NPRL3	Microsatellite (splice donor variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2502348	NM_001077350.3:c.(118+1_119-1)_(188+1_189-1)del	NPRL3	Deletion	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 1707541	NM_001077350.3:c.(767+1_768-1)_(924+1_925-1)del	NPRL3	Deletion	Epilepsy, familial focal, with variable foci 3	GLikely pathogenic