ClinVar for MedGen (Select 413258) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367045	NM_014141.6(CNTNAP2):c.3011-2A>C	CNTNAP2	Single nucleotide variant (splice acceptor variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely pathogenic
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 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 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)	Cortical dysplasia-focal epilepsy syndrome	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)	not provided +1 more	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
Select item 2772633	NM_014141.6(CNTNAP2):c.2296C>A (p.Pro766Thr)	CNTNAP2 (P766T)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 2772385	NM_014141.6(CNTNAP2):c.2383+17G>C	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2770914	NM_014141.6(CNTNAP2):c.3693dup (p.His1232fs)	CNTNAP2 (H1232fs)	Duplication (frameshift variant)	Cortical dysplasia-focal epilepsy syndrome	GPathogenic
Select item 2770913	NM_014141.6(CNTNAP2):c.1108G>T (p.Glu370Ter)	CNTNAP2 (E370*)	Single nucleotide variant (nonsense)	Cortical dysplasia-focal epilepsy syndrome	GPathogenic
Select item 2770605	NM_014141.6(CNTNAP2):c.939+19A>G	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GLikely benign
Select item 2769490	NM_014141.6(CNTNAP2):c.1785C>T (p.Tyr595=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2766380	NM_014141.6(CNTNAP2):c.3552C>G (p.Phe1184Leu)	CNTNAP2 (F1184L)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 2766373	NM_014141.6(CNTNAP2):c.402G>A (p.Trp134Ter)	CNTNAP2 (W134*)	Single nucleotide variant (nonsense)	Cortical dysplasia-focal epilepsy syndrome	GPathogenic
Select item 2764266	NM_014141.6(CNTNAP2):c.2829T>C (p.Asn943=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2759013	NM_014141.6(CNTNAP2):c.9G>T (p.Ala3=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2757477	NM_014141.6(CNTNAP2):c.551-17T>A	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2757334	NM_014141.6(CNTNAP2):c.2555-8T>C	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2754522	NM_014141.6(CNTNAP2):c.3796+13T>C	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2753253	NM_014141.6(CNTNAP2):c.208+1G>A	CNTNAP2	Single nucleotide variant (splice donor variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely pathogenic
Select item 2752820	NM_014141.6(CNTNAP2):c.2994A>G (p.Gly998=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2752194	NM_014141.6(CNTNAP2):c.108T>C (p.Asp36=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2745877	NM_014141.6(CNTNAP2):c.3476-13T>C	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2745445	NM_014141.6(CNTNAP2):c.2124T>A (p.Val708=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2744629	NM_014141.6(CNTNAP2):c.550+16_550+17insGGCAGGTTTTATCTTTTTTTAAATTTT	CNTNAP2	Insertion (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2743087	NM_014141.6(CNTNAP2):c.267T>C (p.Phe89=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2741373	NM_014141.6(CNTNAP2):c.209-16C>T	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2739462	NM_014141.6(CNTNAP2):c.1670+18C>G	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2736678	NM_014141.6(CNTNAP2):c.3715+23_3715+51del	CNTNAP2	Deletion (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign

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