ClinVar for MedGen (Select 934676) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234901	NM_006545.5(NPRL2):c.995G>A (p.Arg332Gln)	NPRL2 (R332Q)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
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 3066186	NM_006545.5(NPRL2):c.523C>A (p.Pro175Thr)	NPRL2 (P175T)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 3027459	NM_006545.5(NPRL2):c.697G>A (p.Val233Met)	NPRL2 (V233M)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 2671799	NM_004366.6(CLCN2):c.2270C>T (p.Ala757Val)	CLCN2 (A713V +2 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 2631796	NM_006545.5(NPRL2):c.932G>A (p.Arg311Gln)	NPRL2 (R311Q)	Single nucleotide variant (missense variant)	NPRL2-related disorder +1 more	GUncertain significance
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 2434429	NM_006545.5(NPRL2):c.728A>G (p.Asn243Ser)	NPRL2 (N243S)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2 +1 more	GConflicting classifications of pathogenicity
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 2434425	NM_006545.5(NPRL2):c.684-12TC[3]	NPRL2	Microsatellite (intron variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 1804017	NM_006545.5(NPRL2):c.232C>T (p.Arg78Cys)	NPRL2 (R78C)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GLikely pathogenic
Select item 1698765	NM_006545.5(NPRL2):c.1004G>A (p.Arg335Gln)	NPRL2 (R335Q)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 1697305	NM_006545.5(NPRL2):c.683T>C (p.Leu228Pro)	NPRL2 (L228P)	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 1684544	NM_003995.4(NPR2):c.2794C>T (p.Arg932Cys)	SPAG8, NPR2 (R932C +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 2	GLikely pathogenic
Select item 1526377	NM_006545.5(NPRL2):c.57_58delinsC (p.Gly20fs)	NPRL2 (G20fs)	Indel (frameshift variant)	Epilepsy, familial focal, with variable foci 2 +1 more	GPathogenic
Select item 1342320	NM_006545.5(NPRL2):c.694G>A (p.Val232Ile)	NPRL2 (V232I)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2 +1 more	GConflicting classifications of pathogenicity
Select item 1339827	NM_006545.5(NPRL2):c.213C>G (p.Ile71Met)	NPRL2 (I71M)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	Gnot provided
Select item 1325804	NM_006545.5(NPRL2):c.586-3C>A	NPRL2	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 1297009	NM_006545.5(NPRL2):c.865_871del (p.Ser289fs)	NPRL2 (S289fs)	Deletion (frameshift variant)	Epilepsy, familial focal, with variable foci 2	GLikely pathogenic
Select item 1251968	NM_006545.5(NPRL2):c.661C>T (p.Arg221Cys)	NPRL2 (R221C)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 1199190	NM_006545.5(NPRL2):c.472A>G (p.Lys158Glu)	NPRL2 (K158E)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 992991	NM_003995.4(NPR2):c.3059G>A (p.Arg1020Gln)	NPR2, SPAG8 (R1020Q +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 986339	NM_006545.5(NPRL2):c.932+1G>A	NPRL2	Single nucleotide variant (splice donor variant)	Epilepsy, familial focal, with variable foci 2	GPathogenic/Likely 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 800932	NM_003995.4(NPR2):c.2966G>A (p.Arg989Gln)	NPR2, SPAG8 (R989Q +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type	GPathogenic
Select item 800931	NM_003995.4(NPR2):c.1032T>G (p.Tyr344Ter)	NPR2 (Y344*)	Single nucleotide variant (nonsense)	Epilepsy, familial focal, with variable foci 2	GLikely pathogenic
Select item 692035	NM_006545.5(NPRL2):c.445_448+3del	NPRL2	Deletion (splice donor 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
Select item 418389	NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu)	SPAG8, NPR2 (R989L +1 more)	Single nucleotide variant (missense variant +1 more)	NPR2-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 254365	NM_006545.5(NPRL2):c.68_69del (p.Ile23fs)	NPRL2 (I23fs)	Deletion (frameshift variant)	Epilepsy, familial focal, with variable foci 2	GPathogenic
Select item 254364	NM_006545.5(NPRL2):c.314T>C (p.Leu105Pro)	NPRL2 (L105P)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GPathogenic
Select item 254363	NM_006545.5(NPRL2):c.883C>T (p.Arg295Ter)	NPRL2 (R295*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 254362	NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter)	NPRL2 (R34*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

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Items: 38