Related gene-specific medical variations for Gene (Select 10641) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068298	NM_006545.5(NPRL2):c.233G>A (p.Arg78His)	NPRL2 (R78H)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GLikely pathogenic
Select item 2576036	NM_006545.5(NPRL2):c.994C>T (p.Arg332Trp)	NPRL2 (R332W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2445421	NM_006545.5(NPRL2):c.907del (p.Gln303fs)	NPRL2 (Q303fs)	Deletion (frameshift variant)	Familial focal epilepsy with variable foci	GLikely pathogenic
Select item 2442080	NM_006545.5(NPRL2):c.260T>C (p.Phe87Ser)	NPRL2 (F87S)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 2442070	NM_006545.5(NPRL2):c.416T>G (p.Leu139Arg)	NPRL2 (L139R)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 2434428	NM_006545.5(NPRL2):c.743C>T (p.Thr248Met)	NPRL2 (T248M)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 2434427	NM_006545.5(NPRL2):c.158A>G (p.Lys53Arg)	NPRL2 (K53R)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 2434426	NM_006545.5(NPRL2):c.911A>C (p.Gln304Pro)	NPRL2 (Q304P)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 1696508	NM_006545.5(NPRL2):c.562C>T (p.Gln188Ter)	NPRL2 (Q188*)	Single nucleotide variant (nonsense)	Epilepsy, familial focal, with variable foci 2	GLikely pathogenic
Select item 931493	NM_006545.5(NPRL2):c.491dup (p.Asp165fs)	NPRL2 (D165fs)	Duplication (frameshift variant)	Epilepsy, familial focal, with variable foci 2	GLikely pathogenic
Select item 625281	NM_006545.5(NPRL2):c.233G>T (p.Arg78Leu)	NPRL2 (R78L)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 548578	NM_006545.5(NPRL2):c.602A>C (p.Asp201Ala)	NPRL2 (D201A)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance