10641[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 1249338	NM_006545.5(NPRL2):c.*59del	NPRL2	Deletion (3 prime UTR variant)	not provided +1 more	GBenign
Select item 779822	NM_006545.5(NPRL2):c.1140G>A (p.Lys380=)	NPRL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1723479	NM_006545.5(NPRL2):c.1111A>T (p.Asn371Tyr)	NPRL2 (N371Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013477	NM_006545.5(NPRL2):c.1082G>A (p.Ser361Asn)	NPRL2 (S361N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3242077	NM_006545.5(NPRL2):c.1080G>A (p.Met360Ile)	NPRL2 (M360I)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 1050753	NM_006545.5(NPRL2):c.1075+4G>A	NPRL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3300850	NM_006545.5(NPRL2):c.1057G>A (p.Glu353Lys)	NPRL2 (E353K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466745	NM_006545.5(NPRL2):c.1027C>T (p.Arg343Trp)	NPRL2 (R343W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1706341	NM_006545.5(NPRL2):c.1022C>T (p.Pro341Leu)	NPRL2 (P341L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2576036	NM_006545.5(NPRL2):c.994C>T (p.Arg332Trp)	NPRL2 (R332W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1050504	NM_006545.5(NPRL2):c.963C>A (p.Asn321Lys)	NPRL2 (N321K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326505	NM_006545.5(NPRL2):c.950G>A (p.Gly317Glu)	NPRL2 (G317E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 871251	NM_006545.5(NPRL2):c.943C>T (p.Gln315Ter)	NPRL2 (Q315*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1309694	NM_006545.5(NPRL2):c.938T>G (p.Leu313Arg)	NPRL2 (L313R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251364	NM_006545.5(NPRL2):c.933-19C>T	NPRL2	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 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 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 2445421	NM_006545.5(NPRL2):c.907del (p.Gln303fs)	NPRL2 (Q303fs)	Deletion (frameshift variant)	Familial focal epilepsy with variable foci	GLikely pathogenic
Select item 2519218	NM_006545.5(NPRL2):c.899G>A (p.Arg300His)	NPRL2 (R300H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222748	NM_006545.5(NPRL2):c.884G>A (p.Arg295Gln)	NPRL2 (R295Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 254363	NM_006545.5(NPRL2):c.883C>T (p.Arg295Ter)	NPRL2 (R295*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1298917	NM_006545.5(NPRL2):c.880G>A (p.Val294Met)	NPRL2 (V294M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 3300849	NM_006545.5(NPRL2):c.847C>T (p.Gln283Ter)	NPRL2 (Q283*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2653858	NM_006545.5(NPRL2):c.836G>A (p.Arg279Gln)	NPRL2 (R279Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3371657	NM_006545.5(NPRL2):c.813A>C (p.Gln271His)	NPRL2 (Q271H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371128	NM_006545.5(NPRL2):c.788C>T (p.Ala263Val)	NPRL2 (A263V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135995	NM_006545.5(NPRL2):c.756G>C (p.Gln252His)	NPRL2 (Q252H)	Single nucleotide variant (missense variant)	not provided	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 715448	NM_006545.5(NPRL2):c.738C>T (p.Cys246=)	NPRL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 595883	NM_006545.5(NPRL2):c.721-2A>G	NPRL2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2502544	NM_006545.5(NPRL2):c.719A>G (p.Gln240Arg)	NPRL2 (Q240R)	Single nucleotide variant (missense variant)	not provided	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 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 3041051	NM_006545.5(NPRL2):c.690C>T (p.Tyr230=)	NPRL2	Single nucleotide variant (synonymous variant)	NPRL2-related disorder	GLikely benign
Select item 2434425	NM_006545.5(NPRL2):c.684-12TC[3]	NPRL2	Microsatellite (intron variant)	not provided +1 more	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 2543509	NM_006545.5(NPRL2):c.679C>A (p.Leu227Met)	NPRL2 (L227M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 773985	NM_006545.5(NPRL2):c.662G>A (p.Arg221His)	NPRL2 (R221H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 1722418	NM_006545.5(NPRL2):c.640G>C (p.Asp214His)	NPRL2 (D214H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201779	NM_006545.5(NPRL2):c.611G>A (p.Arg204His)	NPRL2 (R204H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2653859	NM_006545.5(NPRL2):c.586-3C>T	NPRL2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 2217006	NM_006545.5(NPRL2):c.541_543del (p.Lys181del)	NPRL2 (K181del)	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2663506	NM_006545.5(NPRL2):c.535A>G (p.Lys179Glu)	NPRL2 (K179E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695442	NM_006545.5(NPRL2):c.531T>A (p.Phe177Leu)	NPRL2 (F177L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 707379	NM_006545.5(NPRL2):c.501G>A (p.Pro167=)	NPRL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2631200	NM_006545.5(NPRL2):c.500C>T (p.Pro167Leu)	NPRL2 (P167L)	Single nucleotide variant (missense variant)	NPRL2-related disorder	GUncertain significance
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 3201778	NM_006545.5(NPRL2):c.490C>A (p.Pro164Thr)	NPRL2 (P164T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515426	NM_006545.5(NPRL2):c.488G>A (p.Arg163Gln)	NPRL2 (R163Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3368446	NM_006545.5(NPRL2):c.458A>G (p.Asn153Ser)	NPRL2 (N153S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1182592	NM_006545.5(NPRL2):c.448+107G>C	NPRL2	Single nucleotide variant (intron variant)	not provided	GBenign
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 1313372	NM_006545.5(NPRL2):c.446T>C (p.Ile149Thr)	NPRL2 (I149T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2472540	NM_006545.5(NPRL2):c.430C>T (p.Arg144Trp)	NPRL2 (R144W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3036595	NM_006545.5(NPRL2):c.401del (p.Ile134fs)	NPRL2 (I134fs)	Deletion (frameshift variant)	NPRL2-related disorder	GLikely pathogenic
Select item 3201777	NM_006545.5(NPRL2):c.316G>T (p.Ala106Ser)	NPRL2 (A106S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3371191	NM_006545.5(NPRL2):c.301A>G (p.Ile101Val)	NPRL2 (I101V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3201776	NM_006545.5(NPRL2):c.295G>A (p.Glu99Lys)	NPRL2 (E99K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675921	NM_006545.5(NPRL2):c.289G>A (p.Ala97Thr)	NPRL2 (A97T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 784803	NM_006545.5(NPRL2):c.288C>T (p.Cys96=)	NPRL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3201775	NM_006545.5(NPRL2):c.271G>A (p.Ala91Thr)	NPRL2 (A91T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1697006	NM_006545.5(NPRL2):c.258C>G (p.Gly86=)	NPRL2	Single nucleotide variant (synonymous variant)	not provided	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 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 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 3029320	NM_006545.5(NPRL2):c.214G>A (p.Glu72Lys)	NPRL2 (E72K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3372579	NM_006545.5(NPRL2):c.191T>C (p.Leu64Pro)	NPRL2 (L64P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3201774	NM_006545.5(NPRL2):c.184A>G (p.Lys62Glu)	NPRL2 (K62E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1304321	NM_006545.5(NPRL2):c.170+5G>A	NPRL2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
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 2691507	NM_006545.5(NPRL2):c.101G>A (p.Arg34Gln)	NPRL2 (R34Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 254362	NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter)	NPRL2 (R34*)	Single nucleotide variant (nonsense)	Epilepsy, familial focal, with variable foci 2 +2 more	GConflicting classifications of pathogenicity
Select item 1172663	NM_006545.5(NPRL2):c.79-1G>T	NPRL2	Single nucleotide variant (splice acceptor variant)	Neonatal respiratory distress	GLikely pathogenic
Select item 1269826	NM_006545.5(NPRL2):c.79-57T>G	NPRL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1250661	NM_006545.5(NPRL2):c.78+133G>A	NPRL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3035809	NM_006545.5(NPRL2):c.78+9C>T	NPRL2	Single nucleotide variant (intron variant)	NPRL2-related disorder	GLikely benign
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 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 2236667	NM_006545.5(NPRL2):c.10G>A (p.Gly4Ser)	NPRL2 (G4S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 992287	NM_006545.5(NPRL2):c.3G>T (p.Met1Ile)	NPRL2 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1675922	NM_006545.5(NPRL2):c.-4T>G	NPRL2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1289666	NC_000003.12:g.50350952C>A	CYB561D2, LOC127898564 +2 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1231684	NC_000003.12:g.50351176C>A	CYB561D2, LOC127898564 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign

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