"Ambry Genetics"[submitter] AND "CNTNAP2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 205242	NM_014141.6(CNTNAP2):c.37C>T (p.Leu13Phe)	CNTNAP2 (L13F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1504341	NM_014141.6(CNTNAP2):c.62G>A (p.Cys21Tyr)	CNTNAP2 (C21Y)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 205311	NM_014141.6(CNTNAP2):c.65T>C (p.Leu22Pro)	CNTNAP2 (L22P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 166907	NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr)	CNTNAP2 (A25T)	Single nucleotide variant (missense variant)	CNTNAP2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 195292	NM_014141.6(CNTNAP2):c.136G>A (p.Val46Met)	CNTNAP2 (V46M)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 1771265	NM_014141.6(CNTNAP2):c.137T>C (p.Val46Ala)	CNTNAP2 (V46A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1369652	NM_014141.6(CNTNAP2):c.226C>T (p.Pro76Ser)	CNTNAP2 (P76S)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 205299	NM_014141.6(CNTNAP2):c.238G>A (p.Asp80Asn)	CNTNAP2 (D80N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1045396	NM_014141.6(CNTNAP2):c.245A>T (p.Tyr82Phe)	CNTNAP2 (Y82F)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 1793787	NM_014141.6(CNTNAP2):c.260T>C (p.Val87Ala)	CNTNAP2 (V87A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 205300	NM_014141.6(CNTNAP2):c.275G>A (p.Arg92Gln)	CNTNAP2 (R92Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 205320	NM_014141.6(CNTNAP2):c.293T>C (p.Ile98Thr)	CNTNAP2 (I98T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 128803	NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 1729524	NM_014141.6(CNTNAP2):c.325T>C (p.Trp109Arg)	CNTNAP2 (W109R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 196459	NM_014141.6(CNTNAP2):c.341G>A (p.Arg114Gln)	CNTNAP2 (R114Q)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +3 more	GConflicting classifications of pathogenicity
Select item 423756	NM_014141.6(CNTNAP2):c.343A>C (p.Met115Leu)	CNTNAP2 (M115L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 205302	NM_014141.6(CNTNAP2):c.355G>A (p.Asp119Asn)	CNTNAP2 (D119N)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +2 more	GUncertain significance
Select item 2608177	NM_014141.6(CNTNAP2):c.357C>G (p.Asp119Glu)	CNTNAP2 (D119E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 205321	NM_014141.6(CNTNAP2):c.400T>G (p.Trp134Gly)	CNTNAP2 (W134G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 588904	NM_014141.6(CNTNAP2):c.469C>G (p.Arg157Gly)	CNTNAP2 (R157G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 95574	NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His)	CNTNAP2 (R160H)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +5 more	GUncertain significance
Select item 128808	NM_014141.6(CNTNAP2):c.485T>G (p.Val162Gly)	CNTNAP2 (V162G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2289903	NM_014141.6(CNTNAP2):c.493G>A (p.Asp165Asn)	CNTNAP2 (D165N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 205307	NM_014141.6(CNTNAP2):c.512G>T (p.Arg171Leu)	CNTNAP2 (R171L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 588322	NM_014141.6(CNTNAP2):c.538G>A (p.Gly180Ser)	CNTNAP2 (G180S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 95576	NM_014141.6(CNTNAP2):c.551-11_551-10insG	CNTNAP2	Insertion (intron variant)	Cortical dysplasia-focal epilepsy syndrome +4 more	GBenign
Select item 136839	NM_014141.6(CNTNAP2):c.561T>C (p.Val187=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +3 more	GConflicting classifications of pathogenicity
Select item 909245	NM_014141.6(CNTNAP2):c.600C>T (p.Phe200=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1751378	NM_014141.6(CNTNAP2):c.606C>T (p.Asn202=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 205309	NM_014141.6(CNTNAP2):c.632T>C (p.Val211Ala)	CNTNAP2 (V211A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 377703	NM_014141.6(CNTNAP2):c.633C>A (p.Val211=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +2 more	GLikely benign
Select item 205310	NM_014141.6(CNTNAP2):c.653C>T (p.Thr218Met)	CNTNAP2 (T218M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 205322	NM_014141.6(CNTNAP2):c.676C>A (p.Leu226Met)	CNTNAP2 (L226M)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 15 +3 more	GUncertain significance
Select item 95577	NM_014141.6(CNTNAP2):c.681C>T (p.His227=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +5 more	GConflicting classifications of pathogenicity
Select item 450928	NM_014141.6(CNTNAP2):c.700G>T (p.Asp234Tyr)	CNTNAP2 (D234Y)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +2 more	GUncertain significance
Select item 953897	NM_014141.6(CNTNAP2):c.736G>A (p.Val246Ile)	CNTNAP2 (V246I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 136809	NM_014141.6(CNTNAP2):c.755-5C>T	CNTNAP2	Single nucleotide variant (intron variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 589692	NM_014141.6(CNTNAP2):c.766C>T (p.Leu256Phe)	CNTNAP2 (L256F)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 136810	NM_014141.6(CNTNAP2):c.834T>C (p.Ser278=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +2 more	GBenign/Likely benign
Select item 205212	NM_014141.6(CNTNAP2):c.837G>A (p.Val279=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 590179	NM_014141.6(CNTNAP2):c.848G>T (p.Arg283Leu)	CNTNAP2 (R283L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 95578	NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala)	CNTNAP2 (G285A)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +4 more	GBenign/Likely benign
Select item 416995	NM_014141.6(CNTNAP2):c.855G>A (p.Gly285=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GLikely benign
Select item 1054748	NM_014141.6(CNTNAP2):c.862A>G (p.Ile288Val)	CNTNAP2 (I288V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 699340	NM_014141.6(CNTNAP2):c.894C>T (p.His298=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1058409	NM_014141.6(CNTNAP2):c.935A>G (p.Tyr312Cys)	CNTNAP2 (Y312C)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 205229	NM_014141.6(CNTNAP2):c.1028A>G (p.Asn343Ser)	CNTNAP2 (N343S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 937631	NM_014141.6(CNTNAP2):c.1031G>A (p.Gly344Asp)	CNTNAP2 (G344D)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 377705	NM_014141.6(CNTNAP2):c.1032C>T (p.Gly344=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 640894	NM_014141.6(CNTNAP2):c.1039A>G (p.Ile347Val)	CNTNAP2 (I347V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1774040	NM_014141.6(CNTNAP2):c.1040T>A (p.Ile347Asn)	CNTNAP2 (I347N)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	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 588397	NM_014141.6(CNTNAP2):c.1062G>A (p.Lys354=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +2 more	GLikely benign
Select item 1782032	NM_014141.6(CNTNAP2):c.1066T>A (p.Leu356Ile)	CNTNAP2 (L356I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 205230	NM_014141.6(CNTNAP2):c.1078A>G (p.Asn360Asp)	CNTNAP2 (N360D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 198561	NM_014141.6(CNTNAP2):c.1079A>G (p.Asn360Ser)	CNTNAP2 (N360S)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +2 more	GUncertain significance
Select item 95554	NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2413487	NM_014141.6(CNTNAP2):c.1084G>A (p.Gly362Arg)	CNTNAP2 (G362R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2270057	NM_014141.6(CNTNAP2):c.1096T>C (p.Phe366Leu)	CNTNAP2 (F366L)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 420390	NM_014141.6(CNTNAP2):c.1105G>T (p.Val369Leu)	CNTNAP2 (V369L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 128799	NM_014141.6(CNTNAP2):c.1119G>A (p.Thr373=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 453068	NM_014141.6(CNTNAP2):c.1123C>T (p.Pro375Ser)	CNTNAP2 (P375S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 834334	NM_014141.6(CNTNAP2):c.1126G>A (p.Val376Ile)	CNTNAP2 (V376I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 136812	NM_014141.6(CNTNAP2):c.1137C>T (p.Asn379=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +2 more	GBenign/Likely benign
Select item 945566	NM_014141.6(CNTNAP2):c.1138G>A (p.Ala380Thr)	CNTNAP2 (A380T)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +2 more	GUncertain significance
Select item 283787	NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 205233	NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn)	CNTNAP2 (S382N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 1102306	NM_014141.6(CNTNAP2):c.1161C>T (p.Pro387=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GLikely benign
Select item 198854	NM_014141.6(CNTNAP2):c.1165C>T (p.Arg389Trp)	CNTNAP2 (R389W)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +2 more	GUncertain significance
Select item 1549381	NM_014141.6(CNTNAP2):c.1182G>C (p.Leu394=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 588612	NM_014141.6(CNTNAP2):c.1191C>T (p.Val397=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 95555	NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser)	CNTNAP2 (N407S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1755733	NM_014141.6(CNTNAP2):c.1231G>A (p.Val411Ile)	CNTNAP2 (V411I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 205235	NM_014141.6(CNTNAP2):c.1238G>A (p.Ser413Asn)	CNTNAP2 (S413N)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 15 +3 more	GUncertain significance
Select item 128798	NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val)	CNTNAP2 (A416V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 205239	NM_014141.6(CNTNAP2):c.1273G>A (p.Asp425Asn)	CNTNAP2 (D425N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 128800	NM_014141.6(CNTNAP2):c.1308C>T (p.Asn436=)	CNTNAP2	Single nucleotide variant (synonymous variant)	CNTNAP2-related condition +3 more	GBenign/Likely benign
Select item 2228266	NM_014141.6(CNTNAP2):c.1315_1316del (p.Gln439fs)	CNTNAP2 (Q439fs)	Microsatellite (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 166910	NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=)	CNTNAP2	Single nucleotide variant (synonymous variant)	CNTNAP2-related condition +5 more	GConflicting classifications of pathogenicity
Select item 1590464	NM_014141.6(CNTNAP2):c.1320C>A (p.Thr440=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1131010	NM_014141.6(CNTNAP2):c.1353T>C (p.Ser451=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 841475	NM_014141.6(CNTNAP2):c.1359G>C (p.Leu453Phe)	CNTNAP2 (L453F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 385625	NM_014141.6(CNTNAP2):c.1377C>T (p.His459=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2414045	NM_014141.6(CNTNAP2):c.1381G>A (p.Val461Ile)	CNTNAP2 (V461I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 205243	NM_014141.6(CNTNAP2):c.1385G>A (p.Arg462His)	CNTNAP2 (R462H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2493649	NM_014141.6(CNTNAP2):c.1403A>T (p.Asn468Ile)	CNTNAP2 (N468I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1316086	NM_014141.6(CNTNAP2):c.1411A>G (p.Ile471Val)	CNTNAP2 (I471V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1416762	NM_014141.6(CNTNAP2):c.1423G>A (p.Asp475Asn)	CNTNAP2 (D475N)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 283535	NM_014141.6(CNTNAP2):c.1455T>C (p.Asn485=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1773096	NM_014141.6(CNTNAP2):c.1458T>G (p.Ser486Arg)	CNTNAP2 (S486R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1040252	NM_014141.6(CNTNAP2):c.1479C>T (p.Gly493=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 205245	NM_014141.6(CNTNAP2):c.1480G>A (p.Glu494Lys)	CNTNAP2 (E494K)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder +4 more	GConflicting classifications of pathogenicity
Select item 2612260	NM_014141.6(CNTNAP2):c.1481A>T (p.Glu494Val)	CNTNAP2 (E494V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1773916	NM_014141.6(CNTNAP2):c.1498+3A>C	CNTNAP2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1000568	NM_014141.6(CNTNAP2):c.1552C>G (p.Gln518Glu)	CNTNAP2 (Q518E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 136813	NM_014141.6(CNTNAP2):c.1566G>A (p.Gln522=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 283353	NM_014141.6(CNTNAP2):c.1581C>T (p.Asp527=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1023896	NM_014141.6(CNTNAP2):c.1582G>A (p.Asp528Asn)	CNTNAP2 (D528N)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 536331	NM_014141.6(CNTNAP2):c.1634C>T (p.Ala545Val)	CNTNAP2 (A545V)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +3 more	GConflicting classifications of pathogenicity
Select item 699124	NM_014141.6(CNTNAP2):c.1635G>A (p.Ala545=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign

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