Related gene-specific medical variations for Gene (Select 26047) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062989	GRCh37/hg19 7q35(chr7:146736347-146770928)x1	CNTNAP2	Copy number loss	not specified	GUncertain significance
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 3024371	GRCh38/hg38 7q35(chr7:146320644-146339450)	CNTNAP2	Copy number loss	Autism spectrum disorder	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 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 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 2440179	NM_014141.6(CNTNAP2):c.1530C>A (p.His510Gln)	CNTNAP2 (H510Q)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 2440178	NM_014141.6(CNTNAP2):c.3476-4T>C	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 2440177	NM_014141.6(CNTNAP2):c.789A>G (p.Thr263=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 2440176	NM_014141.6(CNTNAP2):c.1898-278_1898-276del	CNTNAP2	Microsatellite (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 2429342	GRCh38/hg38 7q36.1(chr7:148383649-148383888)x1	CNTNAP2	Copy number loss	Cortical dysplasia-focal epilepsy syndrome	GPathogenic
Select item 2429341	GRCh38/hg38 7q35(chr7:147977862-147977989)x1	CNTNAP2	Copy number loss	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 2429340	NM_014141.6(CNTNAP2):c.1628del (p.Ser543fs)	CNTNAP2 (S543fs)	Deletion (frameshift variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 2429113	NM_014141.6(CNTNAP2):c.1680del (p.Asn561fs)	CNTNAP2 (N561fs)	Deletion (frameshift variant)	Cortical dysplasia-focal epilepsy syndrome	GPathogenic
Select item 2429112	NM_014141.6(CNTNAP2):c.3407_3411del (p.Tyr1136fs)	CNTNAP2 (Y1136fs)	Deletion (frameshift variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely pathogenic
Select item 2429108	NM_014141.6(CNTNAP2):c.3814A>T (p.Ile1272Phe)	CNTNAP2 (I1272F)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 2193253	NM_014141.6(CNTNAP2):c.2967C>T (p.Cys989=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2150548	NM_014141.6(CNTNAP2):c.2794G>A (p.Gly932Ser)	CNTNAP2, LOC126860216 (G932S)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 2127204	NM_014141.6(CNTNAP2):c.2844C>A (p.Asp948Glu)	CNTNAP2, LOC126860216 (D948E)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 2107387	NM_014141.6(CNTNAP2):c.2943A>G (p.Leu981=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2091799	NM_014141.6(CNTNAP2):c.2929G>T (p.Gly977Ter)	CNTNAP2, LOC126860216 (G977*)	Single nucleotide variant (nonsense)	Cortical dysplasia-focal epilepsy syndrome	GPathogenic
Select item 2036382	NM_014141.6(CNTNAP2):c.2973C>T (p.Cys991=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2032905	NM_014141.6(CNTNAP2):c.2901C>T (p.Cys967=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2023127	NM_014141.6(CNTNAP2):c.3010+11A>T	CNTNAP2, LOC126860216	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 2012682	NM_014141.6(CNTNAP2):c.2913A>G (p.Gly971=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 1998653	NM_014141.6(CNTNAP2):c.2862G>A (p.Lys954=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 1993155	NM_014141.6(CNTNAP2):c.2797T>G (p.Phe933Val)	CNTNAP2, LOC126860216 (F933V)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 1944215	NM_014141.6(CNTNAP2):c.2774-18G>A	CNTNAP2, LOC126860216	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 1903066	NM_014141.6(CNTNAP2):c.2785G>A (p.Gly929Ser)	CNTNAP2, LOC126860216 (G929S)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 1809403	GRCh37/hg19 7q35(chr7:146419362-146482960)x1	CNTNAP2	Copy number loss	not provided	GUncertain significance
Select item 1809219	GRCh37/hg19 7q35(chr7:146653811-146973051)x1	CNTNAP2	Copy number loss	not provided	GUncertain significance
Select item 1808751	GRCh37/hg19 7q35-36.1(chr7:147476658-148112546)x3	CNTNAP2	Copy number gain	not provided	GUncertain significance
Select item 1808379	GRCh37/hg19 7q35(chr7:146424695-146581051)x1	CNTNAP2	Copy number loss	not provided	GUncertain significance
Select item 1807963	GRCh37/hg19 7q35(chr7:145267506-146974497)x3	CNTNAP2	Copy number gain	not provided	GUncertain significance
Select item 1807588	GRCh37/hg19 7q35(chr7:145995942-147678501)x3	CNTNAP2	Copy number gain	not provided	GUncertain significance
Select item 1801404	NM_014141.6(CNTNAP2):c.1498+47142_1498+47201del	CNTNAP2	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1801403	NM_014141.6(CNTNAP2):c.1348+54355_1348+54568del	CNTNAP2	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1798098	NM_014141.6(CNTNAP2):c.2955C>T (p.His985=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1796899	NM_014141.6(CNTNAP2):c.2857G>C (p.Ala953Pro)	CNTNAP2, LOC126860216 (A953P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1717308	NM_014141.6(CNTNAP2):c.2900G>T (p.Cys967Phe)	CNTNAP2, LOC126860216 (C967F)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 1713396	NM_014141.6(CNTNAP2):c.2849A>G (p.Glu950Gly)	CNTNAP2, LOC126860216 (E950G)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 1700186	NM_014141.6(CNTNAP2):c.1349-2A>G	CNTNAP2	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1696732	NM_014141.6(CNTNAP2):c.2384-4637del	CNTNAP2	Deletion (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 1668381	NM_014141.6(CNTNAP2):c.2799C>T (p.Phe933=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 1650215	NM_014141.6(CNTNAP2):c.2823G>A (p.Arg941=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 1579445	NM_014141.6(CNTNAP2):c.2886A>G (p.Gly962=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 1556439	NM_014141.6(CNTNAP2):c.2781T>C (p.Ala927=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 1541665	NM_014141.6(CNTNAP2):c.2947A>C (p.Arg983=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 1527411	GRCh37/hg19 7q35(chr7:146530845-146880584)	CNTNAP2	Copy number loss	not specified	GUncertain significance
Select item 1527410	GRCh37/hg19 7q35(chr7:146486478-146925606)	CNTNAP2	Copy number loss	not specified	GUncertain significance
Select item 1527409	GRCh37/hg19 7q35(chr7:145993543-147678501)	CNTNAP2	Copy number gain	not specified	GUncertain significance
Select item 1472731	NM_014141.6(CNTNAP2):c.2942T>C (p.Leu981Pro)	CNTNAP2, LOC126860216 (L981P)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 1455600	NM_014141.6(CNTNAP2):c.2910T>A (p.Tyr970Ter)	CNTNAP2, LOC126860216 (Y970*)	Single nucleotide variant (nonsense)	Cortical dysplasia-focal epilepsy syndrome	GPathogenic
Select item 1389980	NM_014141.6(CNTNAP2):c.2780C>A (p.Ala927Asp)	CNTNAP2, LOC126860216 (A927D)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 1375785	NM_014141.6(CNTNAP2):c.2855G>A (p.Arg952Lys)	CNTNAP2, LOC126860216 (R952K)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 1365819	NM_014141.6(CNTNAP2):c.3005A>T (p.Asn1002Ile)	CNTNAP2, LOC126860216 (N1002I)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 1341167	GRCh37/hg19 7q35(chr7:145931981-146001345)x1	CNTNAP2	Copy number loss	not provided	GUncertain significance
Select item 1341104	GRCh37/hg19 7q35(chr7:146514154-146930797)x1	CNTNAP2	Copy number loss	not provided	GUncertain significance
Select item 1340698	GRCh37/hg19 7q35(chr7:146687714-146750254)x1	CNTNAP2	Copy number loss	not provided	GUncertain significance
Select item 1340398	GRCh37/hg19 7q35(chr7:146080018-146260337)x1	CNTNAP2	Copy number loss	not provided	GUncertain significance
Select item 1339983	GRCh37/hg19 7q35(chr7:146730950-147188259)x3	CNTNAP2	Copy number gain	not provided	GUncertain significance
Select item 1338836	GRCh38/hg38 7q35(chr7:146062109-146215075)	CNTNAP2	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 1322100	NM_014141.6(CNTNAP2):c.2884G>T (p.Gly962Ter)	CNTNAP2, LOC126860216 (G962*)	Single nucleotide variant (nonsense)	Cortical dysplasia-focal epilepsy syndrome	GPathogenic
Select item 1320911	NM_014141.6(CNTNAP2):c.2813G>A (p.Arg938His)	CNTNAP2, LOC126860216 (R938H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1213132	NM_014141.6(CNTNAP2):c.2945A>G (p.Glu982Gly)	CNTNAP2, LOC126860216 (E982G)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +2 more	GUncertain significance
Select item 1146590	NM_014141.6(CNTNAP2):c.2886A>T (p.Gly962=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 1092214	NM_014141.6(CNTNAP2):c.2796C>T (p.Gly932=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 1092103	NM_014141.6(CNTNAP2):c.3006C>T (p.Asn1002=)	LOC126860216, CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 1088670	NM_014141.6(CNTNAP2):c.2976T>C (p.Ser992=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 1073332	NM_014141.6(CNTNAP2):c.2922_2923del (p.Cys974_Glu975delinsTer)	CNTNAP2, LOC126860216	Microsatellite (nonsense)	Cortical dysplasia-focal epilepsy syndrome	GPathogenic
Select item 1063761	NM_014141.6(CNTNAP2):c.2946G>C (p.Glu982Asp)	CNTNAP2, LOC126860216 (E982D)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 1044187	NM_014141.6(CNTNAP2):c.2837C>A (p.Thr946Lys)	CNTNAP2, LOC126860216 (T946K)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 987316	NM_014141.6(CNTNAP2):c.694C>T (p.Gln232Ter)	CNTNAP2 (Q232*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 979805	GRCh37/hg19 7q35(chr7:146014527-146147523)x1	CNTNAP2	Copy number loss	not provided	GUncertain significance
Select item 979804	GRCh37/hg19 7q35(chr7:146736347-146770928)x1	CNTNAP2	Copy number loss	not provided	GUncertain significance
Select item 979802	GRCh37/hg19 7q35(chr7:146669151-146761456)x1	CNTNAP2	Copy number loss	not provided	GUncertain significance
Select item 974853	NM_014141.6(CNTNAP2):c.5_8dup (p.Ala4fs)	CNTNAP2 (A4fs)	Duplication (frameshift variant +1 more)	Cortical dysplasia-focal epilepsy syndrome	GLikely pathogenic
Select item 909391	NM_014141.6(CNTNAP2):c.2903C>T (p.Thr968Ile)	CNTNAP2, LOC126860216 (T968I)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 846300	NM_014141.6(CNTNAP2):c.2833G>A (p.Val945Met)	CNTNAP2, LOC126860216 (V945M)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 842765	NM_014141.6(CNTNAP2):c.3010+3A>G	CNTNAP2, LOC126860216	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 836881	NM_014141.6(CNTNAP2):c.2921G>A (p.Cys974Tyr)	CNTNAP2, LOC126860216 (C974Y)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 815049	GRCh37/hg19 7q35(chr7:147520829-147810263)x1	CNTNAP2	Copy number loss	not provided	GUncertain significance
Select item 815048	GRCh37/hg19 7q35(chr7:146711500-147084973)x1	CNTNAP2	Copy number loss	not provided	GUncertain significance
Select item 815047	GRCh37/hg19 7q35(chr7:146668665-146826267)x1	CNTNAP2	Copy number loss	not provided	GUncertain significance
Select item 815046	GRCh37/hg19 7q35(chr7:145998567-146267257)x1	CNTNAP2	Copy number loss	not provided	GLikely benign
Select item 810205	NM_014141.6(CNTNAP2):c.1487A>G (p.Tyr496Cys)	CNTNAP2 (Y496C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804408	NM_014141.6(CNTNAP2):c.1785C>G (p.Tyr595Ter)	CNTNAP2 (Y595*)	Single nucleotide variant (nonsense)	Cortical dysplasia-focal epilepsy syndrome	GLikely pathogenic
Select item 740135	NM_014141.6(CNTNAP2):c.2952C>T (p.Tyr984=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 688494	GRCh37/hg19 7q35(chr7:146518570-146556401)x1	CNTNAP2	Copy number loss	not provided	GPathogenic
Select item 688361	GRCh37/hg19 7q35(chr7:144892133-146085407)x1	CNTNAP2	Copy number loss	not provided	GPathogenic
Select item 686531	GRCh37/hg19 7q35(chr7:145710114-145814879)x1	CNTNAP2	Copy number loss	not provided	GPathogenic
Select item 685789	GRCh37/hg19 7q35-36.1(chr7:147851733-147972970)x3	CNTNAP2	Copy number gain	not provided	GUncertain significance
Select item 685768	GRCh37/hg19 7q35(chr7:146444082-146478549)x1	CNTNAP2	Copy number loss	not provided	GUncertain significance
Select item 685321	GRCh37/hg19 7q35(chr7:146988542-147102313)x1	CNTNAP2	Copy number loss	not provided	GPathogenic
Select item 682318	NM_014141.6(CNTNAP2):c.2940C>T (p.Cys980=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GLikely benign
Select item 675151	NM_014141.6(CNTNAP2):c.3010+100T>C	CNTNAP2, LOC126860216	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674337	NM_014141.6(CNTNAP2):c.2774-81A>C	CNTNAP2, LOC126860216	Single nucleotide variant (intron variant)	not provided	GLikely benign

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