"PreventionGenetics, part of Exact Sciences"[submitter] AND "CNTNAP2"[ - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1141574	NM_014141.6(CNTNAP2):c.45G>A (p.Leu15=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GLikely benign
Select item 166907	NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr)	CNTNAP2 (A25T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 282365	NM_014141.6(CNTNAP2):c.180C>T (p.Pro60=)	CNTNAP2	Single nucleotide variant (synonymous variant)	CNTNAP2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 95563	NM_014141.6(CNTNAP2):c.237C>T (p.Ser79=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2631799	NM_014141.6(CNTNAP2):c.239A>G (p.Asp80Gly)	CNTNAP2 (D80G)	Single nucleotide variant (missense variant)	CNTNAP2-related disorder	GUncertain significance
Select item 128803	NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +4 more	GBenign/Likely benign
Select item 136836	NM_014141.6(CNTNAP2):c.402+8A>G	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome +2 more	GConflicting classifications of pathogenicity
Select item 95577	NM_014141.6(CNTNAP2):c.681C>T (p.His227=)	CNTNAP2	Single nucleotide variant (synonymous variant)	CNTNAP2-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1058975	NM_014141.6(CNTNAP2):c.845A>G (p.Glu282Gly)	CNTNAP2 (E282G)	Single nucleotide variant (missense variant)	CNTNAP2-related disorder +1 more	GUncertain significance
Select item 95578	NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala)	CNTNAP2 (G285A)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1478241	NM_014141.6(CNTNAP2):c.924G>A (p.Leu308=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GLikely benign
Select item 377705	NM_014141.6(CNTNAP2):c.1032C>T (p.Gly344=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +3 more	GBenign/Likely benign
Select item 95554	NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 128799	NM_014141.6(CNTNAP2):c.1119G>A (p.Thr373=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +2 more	GBenign
Select item 136812	NM_014141.6(CNTNAP2):c.1137C>T (p.Asn379=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
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)	not provided +5 more	GConflicting classifications of pathogenicity
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 128798	NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val)	CNTNAP2 (A416V)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +2 more	GBenign/Likely benign
Select item 128800	NM_014141.6(CNTNAP2):c.1308C>T (p.Asn436=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 166910	NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 205245	NM_014141.6(CNTNAP2):c.1480G>A (p.Glu494Lys)	CNTNAP2 (E494K)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome +4 more	GConflicting classifications of pathogenicity
Select item 166911	NM_014141.6(CNTNAP2):c.1504C>G (p.Leu502Val)	CNTNAP2 (L502V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 699124	NM_014141.6(CNTNAP2):c.1635G>A (p.Ala545=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +2 more	GLikely benign
Select item 95556	NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 205215	NM_014141.6(CNTNAP2):c.1709C>T (p.Ser570Leu)	CNTNAP2 (S570L)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 15 +4 more	GUncertain significance
Select item 95557	NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 205216	NM_014141.6(CNTNAP2):c.1777+7G>A	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 95559	NM_014141.6(CNTNAP2):c.1777+10A>G	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome +3 more	GBenign
Select item 128802	NM_014141.6(CNTNAP2):c.1854C>T (p.Gly618=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +4 more	GBenign/Likely benign
Select item 205217	NM_014141.6(CNTNAP2):c.1898-9T>C	CNTNAP2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 856728	NM_014141.6(CNTNAP2):c.1954G>A (p.Gly652Ser)	CNTNAP2 (G652S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 205219	NM_014141.6(CNTNAP2):c.2046C>T (p.Cys682=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 205256	NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala)	CNTNAP2 (V708A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 377709	NM_014141.6(CNTNAP2):c.2136C>T (p.Asn712=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +3 more	GConflicting classifications of pathogenicity
Select item 420509	NM_014141.6(CNTNAP2):c.2186C>T (p.Ala729Val)	CNTNAP2 (A729V)	Single nucleotide variant (missense variant)	CNTNAP2-related disorder +3 more	GUncertain significance
Select item 205259	NM_014141.6(CNTNAP2):c.2191G>A (p.Gly731Ser)	CNTNAP2 (G731S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 95561	NM_014141.6(CNTNAP2):c.2256-6A>T	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome +3 more	GBenign/Likely benign
Select item 95562	NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 194530	NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu)	CNTNAP2 (V786L)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 194529	NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His)	CNTNAP2 (R790H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 136818	NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 1372248	NM_014141.6(CNTNAP2):c.2638G>A (p.Asp880Asn)	CNTNAP2 (D880N)	Single nucleotide variant (missense variant)	CNTNAP2-related disorder +1 more	GUncertain significance
Select item 1104559	NM_014141.6(CNTNAP2):c.2706G>A (p.Pro902=)	CNTNAP2	Single nucleotide variant (synonymous variant)	CNTNAP2-related disorder +2 more	GLikely benign
Select item 260348	NM_014141.6(CNTNAP2):c.3010+12C>T	CNTNAP2, LOC126860216	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GLikely benign
Select item 205282	NM_014141.6(CNTNAP2):c.3179C>T (p.Ala1060Val)	CNTNAP2 (A1060V)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 128804	NM_014141.6(CNTNAP2):c.3193C>A (p.Leu1065Ile)	CNTNAP2 (L1065I)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 136824	NM_014141.6(CNTNAP2):c.3247+15A>G	CNTNAP2	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 95566	NM_014141.6(CNTNAP2):c.3248-4A>G	CNTNAP2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 95567	NM_014141.6(CNTNAP2):c.3381+17A>C	CNTNAP2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 260349	NM_014141.6(CNTNAP2):c.3476-15C>A	CNTNAP2	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome +3 more	GBenign/Likely benign
Select item 128805	NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +5 more	GConflicting classifications of pathogenicity
Select item 95570	NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2038040	NM_014141.6(CNTNAP2):c.3669C>G (p.Pro1223=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GLikely benign
Select item 136832	NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=)	CNTNAP2	Single nucleotide variant (synonymous variant)	CNTNAP2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 95571	NM_014141.6(CNTNAP2):c.3716-17TCTT[3]	CNTNAP2	Microsatellite (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 468432	NM_014141.6(CNTNAP2):c.3716-5_3716-4insGT	CNTNAP2	Duplication (intron variant)	Cortical dysplasia-focal epilepsy syndrome +3 more	GBenign/Likely benign
Select item 260350	NM_014141.6(CNTNAP2):c.3716-6delinsTTCTG	CNTNAP2	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 95572	NM_014141.6(CNTNAP2):c.3716-6C>G	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome +2 more	GConflicting classifications of pathogenicity
Select item 95573	NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 128807	NM_014141.6(CNTNAP2):c.3797-6C>T	CNTNAP2	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome +2 more	GBenign/Likely benign

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Items: 64