ClinVar for Gene (Select 26047) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268332	NM_014141.6(CNTNAP2):c.2414A>G (p.Asn805Ser)	CNTNAP2 (N805S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268331	NM_014141.6(CNTNAP2):c.2387A>G (p.Asn796Ser)	CNTNAP2 (N796S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257552	NM_014141.6(CNTNAP2):c.1227C>G (p.Leu409=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3257470	NM_014141.6(CNTNAP2):c.81G>A (p.Thr27=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3253490	NM_014141.6(CNTNAP2):c.1857C>A (p.Ser619Arg)	CNTNAP2 (S619R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245766	NC_000007.13:g.(?_147183007)_(147259369_?)dup	CNTNAP2	Duplication	Cortical dysplasia-focal epilepsy syndrome	GLikely pathogenic
Select item 3245765	NC_000007.13:g.(?_146740979)_(146741166_?)dup	CNTNAP2	Duplication	Cortical dysplasia-focal epilepsy syndrome	GLikely pathogenic
Select item 3245764	NC_000007.13:g.(?_147964105)_(147964238_?)dup	CNTNAP2	Duplication	Cortical dysplasia-focal epilepsy syndrome	GLikely pathogenic
Select item 3245763	NC_000007.13:g.(?_146471343)_(146471493_?)dup	CNTNAP2	Duplication	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 3245762	NC_000007.13:g.(?_147183017)_(147183143_?)dup	CNTNAP2	Duplication	Cortical dysplasia-focal epilepsy syndrome	GLikely pathogenic
Select item 3245761	NC_000007.13:g.(?_146471343)_(146741166_?)del	CNTNAP2	Deletion	Cortical dysplasia-focal epilepsy syndrome	GPathogenic
Select item 3245760	NC_000007.13:g.(?_147964105)_(147964238_?)del	CNTNAP2	Deletion	Cortical dysplasia-focal epilepsy syndrome	GPathogenic
Select item 3245716	NC_000007.13:g.(?_147259210)_(148544390_?)dup	C7orf33, CNTNAP2 +2 more	Duplication	Weaver syndrome	GUncertain significance
Select item 3241975	NM_014141.6(CNTNAP2):c.2014A>G (p.Ile672Val)	CNTNAP2 (I672V)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3146831	NM_014141.6(CNTNAP2):c.2455A>G (p.Thr819Ala)	CNTNAP2 (T819A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146830	NM_014141.6(CNTNAP2):c.2219A>C (p.Lys740Thr)	CNTNAP2 (K740T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146829	NM_014141.6(CNTNAP2):c.1796G>C (p.Cys599Ser)	CNTNAP2 (C599S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146828	NM_014141.6(CNTNAP2):c.1694A>G (p.His565Arg)	CNTNAP2 (H565R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146827	NM_014141.6(CNTNAP2):c.1058G>A (p.Arg353Lys)	CNTNAP2 (R353K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067567	NM_014141.6(CNTNAP2):c.2247C>T (p.Tyr749=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062989	GRCh37/hg19 7q35(chr7:146736347-146770928)x1	CNTNAP2	Copy number loss	not specified	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062979	GRCh37/hg19 7q35(chr7:145775893-145817967)x1	CNTNAP2	Copy number loss	not specified	GUncertain significance
Select item 3062978	GRCh37/hg19 7q35(chr7:146669151-146760657)x1	CNTNAP2	Copy number loss	not specified	GUncertain significance
Select item 3062953	GRCh37/hg19 7q35(chr7:146988604-147101573)x1	CNTNAP2	Copy number loss	not specified	GUncertain significance
Select item 3062950	GRCh37/hg19 7q35(chr7:146715860-147086509)x1	CNTNAP2	Copy number loss	not specified	GPathogenic
Select item 3033441	NM_014141.6(CNTNAP2):c.3393T>C (p.Tyr1131=)	CNTNAP2	Single nucleotide variant (synonymous variant)	CNTNAP2-related disorder	GLikely benign
Select item 3032159	NM_014141.6(CNTNAP2):c.2584G>A (p.Val862Met)	CNTNAP2 (V862M)	Single nucleotide variant (missense variant)	CNTNAP2-related disorder	GUncertain significance
Select item 3027408	GRCh37/hg19 7q35(chr7:146504465-146536996)x1	CNTNAP2	Copy number loss	not provided	GPathogenic
Select item 3024371	GRCh38/hg38 7q35(chr7:146320644-146339450)	CNTNAP2	Copy number loss	Autism spectrum disorder	GLikely benign
Select item 3024179	NC_000007.14:g.(?_148411122)_(148421361_?)dup	CNTNAP2	Duplication	Autism spectrum disorder	GUncertain significance
Select item 3021772	NM_014141.6(CNTNAP2):c.2430G>T (p.Leu810=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 3018267	NM_014141.6(CNTNAP2):c.3716-4A>G	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 3018233	NM_014141.6(CNTNAP2):c.1875G>C (p.Leu625=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 3015658	NM_014141.6(CNTNAP2):c.3831C>T (p.Cys1277=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 3015039	NM_014141.6(CNTNAP2):c.2031C>T (p.Asp677=)	CNTNAP2	Single nucleotide variant (synonymous variant)	CNTNAP2-related disorder +1 more	GLikely benign
Select item 3014206	NM_014141.6(CNTNAP2):c.939+9G>A	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 3013734	NM_014141.6(CNTNAP2):c.1777+11A>G	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 3012723	NM_014141.6(CNTNAP2):c.3247+19A>G	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 3008930	NM_014141.6(CNTNAP2):c.1278C>T (p.Leu426=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 3001987	NM_014141.6(CNTNAP2):c.1777+15A>G	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 3001879	NM_014141.6(CNTNAP2):c.231A>G (p.Ser77=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 3001500	NM_014141.6(CNTNAP2):c.1173C>T (p.Asn391=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2999340	NM_014141.6(CNTNAP2):c.2099-16T>C	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2992605	NM_014141.6(CNTNAP2):c.3716-12C>A	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2984439	NM_014141.6(CNTNAP2):c.3992_3996dup (p.Ile1331_Ter1332=)	CNTNAP2	Duplication (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2978620	NM_014141.6(CNTNAP2):c.1020C>T (p.Ile340=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2974019	NM_014141.6(CNTNAP2):c.402+9T>C	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2967228	NM_014141.6(CNTNAP2):c.2574T>C (p.Phe858=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2966993	NM_014141.6(CNTNAP2):c.1897+19T>C	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2964990	NM_014141.6(CNTNAP2):c.1084-17G>T	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2960964	NM_014141.6(CNTNAP2):c.3804T>A (p.Ile1268=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2960568	NM_014141.6(CNTNAP2):c.1777+8C>T	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2960112	NM_014141.6(CNTNAP2):c.1083+16C>G	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2958111	NM_014141.6(CNTNAP2):c.551-12_551-11insG	CNTNAP2	Insertion (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2919428	NM_014141.6(CNTNAP2):c.3011-21TC[4]	CNTNAP2	Microsatellite (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2900427	NM_014141.6(CNTNAP2):c.551-8T>C	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2899532	NM_014141.6(CNTNAP2):c.2151C>T (p.Tyr717=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2896881	NM_014141.6(CNTNAP2):c.2581G>C (p.Asp861His)	CNTNAP2 (D861H)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 2883445	NM_014141.6(CNTNAP2):c.2094C>T (p.Thr698=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2882887	NM_014141.6(CNTNAP2):c.1083+18C>G	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2870284	NM_014141.6(CNTNAP2):c.1807A>T (p.Lys603Ter)	CNTNAP2 (K603*)	Single nucleotide variant (nonsense)	Cortical dysplasia-focal epilepsy syndrome	GPathogenic
Select item 2868553	NM_014141.6(CNTNAP2):c.1348+17T>A	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2868296	NM_014141.6(CNTNAP2):c.2555-5T>G	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2867962	NM_014141.6(CNTNAP2):c.3705C>T (p.His1235=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2866177	NM_014141.6(CNTNAP2):c.1084-2A>C	CNTNAP2	Single nucleotide variant (splice acceptor variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely pathogenic
Select item 2861298	NM_014141.6(CNTNAP2):c.2451G>T (p.Gly817=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2860633	NM_014141.6(CNTNAP2):c.2255+15G>A	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2856366	NM_014141.6(CNTNAP2):c.3828G>A (p.Leu1276=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2852947	NM_014141.6(CNTNAP2):c.3330A>G (p.Gly1110=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2852779	NM_014141.6(CNTNAP2):c.128T>G (p.Leu43Arg)	CNTNAP2 (L43R)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 2851284	NM_014141.6(CNTNAP2):c.2298A>G (p.Pro766=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2849808	NM_014141.6(CNTNAP2):c.755-11T>C	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2846319	NM_014141.6(CNTNAP2):c.1349-1G>A	CNTNAP2	Single nucleotide variant (splice acceptor variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely pathogenic
Select item 2845850	NM_014141.6(CNTNAP2):c.1498+13T>C	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2844207	NM_014141.6(CNTNAP2):c.210T>C (p.Gly70=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2842946	NM_014141.6(CNTNAP2):c.2643G>A (p.Gln881=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2842580	NM_014141.6(CNTNAP2):c.1095C>T (p.Ser365=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2841002	NM_014141.6(CNTNAP2):c.2342A>G (p.Glu781Gly)	CNTNAP2 (E781G)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 2840622	NM_014141.6(CNTNAP2):c.1083+17G>T	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2839558	NM_014141.6(CNTNAP2):c.3582G>A (p.Leu1194=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2830874	NM_014141.6(CNTNAP2):c.2774-11G>A	CNTNAP2, LOC126860216	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2829929	NM_014141.6(CNTNAP2):c.2560A>G (p.Thr854Ala)	CNTNAP2 (T854A)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 2827766	NM_014141.6(CNTNAP2):c.3663C>T (p.Leu1221=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2826793	NM_014141.6(CNTNAP2):c.3669C>T (p.Pro1223=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2823928	NM_014141.6(CNTNAP2):c.755-16A>G	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2820014	NM_014141.6(CNTNAP2):c.2197G>T (p.Glu733Ter)	CNTNAP2 (E733*)	Single nucleotide variant (nonsense)	Cortical dysplasia-focal epilepsy syndrome	GPathogenic
Select item 2818271	NM_014141.6(CNTNAP2):c.3256C>T (p.Gln1086Ter)	CNTNAP2 (Q1086*)	Single nucleotide variant (nonsense)	Cortical dysplasia-focal epilepsy syndrome	GPathogenic
Select item 2818018	NM_014141.6(CNTNAP2):c.1704G>A (p.Lys568=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2817160	NM_014141.6(CNTNAP2):c.3716-20G>C	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2815643	NM_014141.6(CNTNAP2):c.2555-9C>T	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2805938	NM_014141.6(CNTNAP2):c.1209A>G (p.Thr403=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2805613	NM_014141.6(CNTNAP2):c.831C>T (p.His277=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2805102	NM_014141.6(CNTNAP2):c.3537C>G (p.Leu1179=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2795963	NM_014141.6(CNTNAP2):c.1758T>C (p.Ser586=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2795520	NM_014141.6(CNTNAP2):c.1761G>A (p.Gly587=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2792610	NM_014141.6(CNTNAP2):c.3077C>T (p.Ala1026Val)	CNTNAP2 (A1026V)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 2778887	NM_014141.6(CNTNAP2):c.2301G>A (p.Val767=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2773092	NM_014141.6(CNTNAP2):c.2099-6T>G	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign

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