"Athena Diagnostics"[submitter] AND "CNTNAP2"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 166907	NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr)	CNTNAP2 (A25T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 205321	NM_014141.6(CNTNAP2):c.400T>G (p.Trp134Gly)	CNTNAP2 (W134G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 95574	NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His)	CNTNAP2 (R160H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 585730	NM_014141.6(CNTNAP2):c.638C>T (p.Ala213Val)	CNTNAP2 (A213V)	Single nucleotide variant (missense variant)	not provided +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 95578	NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala)	CNTNAP2 (G285A)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 15 +4 more	GBenign/Likely benign
Select item 136812	NM_014141.6(CNTNAP2):c.1137C>T (p.Asn379=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +3 more	GBenign/Likely benign
Select item 128798	NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val)	CNTNAP2 (A416V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 128800	NM_014141.6(CNTNAP2):c.1308C>T (p.Asn436=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +3 more	GBenign/Likely benign
Select item 166910	NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 95556	NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +4 more	GBenign
Select item 95557	NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +4 more	GBenign/Likely benign
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 95561	NM_014141.6(CNTNAP2):c.2256-6A>T	CNTNAP2	Single nucleotide variant (intron variant)	Pitt-Hopkins-like 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 411999	NM_014141.6(CNTNAP2):c.2440A>G (p.Thr814Ala)	CNTNAP2 (T814A)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 5493	NM_014141.6(CNTNAP2):c.2606T>C (p.Ile869Thr)	CNTNAP2 (I869T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 136819	NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala)	CNTNAP2 (V870A)	Single nucleotide variant (missense variant)	See cases +4 more	GConflicting classifications of pathogenicity
Select item 95565	NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +3 more	GBenign/Likely benign
Select item 136822	NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +3 more	GBenign/Likely benign
Select item 205220	NM_014141.6(CNTNAP2):c.3112G>A (p.Asp1038Asn)	CNTNAP2 (D1038N)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 15 +3 more	GConflicting classifications of pathogenicity
Select item 205282	NM_014141.6(CNTNAP2):c.3179C>T (p.Ala1060Val)	CNTNAP2 (A1060V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 128804	NM_014141.6(CNTNAP2):c.3193C>A (p.Leu1065Ile)	CNTNAP2 (L1065I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 95566	NM_014141.6(CNTNAP2):c.3248-4A>G	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome +4 more	GBenign
Select item 585728	NM_014141.6(CNTNAP2):c.3555C>G (p.Asn1185Lys)	CNTNAP2 (N1185K)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 136828	NM_014141.6(CNTNAP2):c.3585G>A (p.Arg1195=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 95570	NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +3 more	GBenign/Likely benign
Select item 95571	NM_014141.6(CNTNAP2):c.3716-17TCTT[3]	CNTNAP2	Microsatellite (intron variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GBenign/Likely benign
Select item 95572	NM_014141.6(CNTNAP2):c.3716-6C>G	CNTNAP2	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 95573	NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 205319	NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr)	CNTNAP2 (I1253T)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 15 +4 more	GConflicting classifications of pathogenicity
Select item 585729	NM_014141.6(CNTNAP2):c.3833C>T (p.Thr1278Ile)	CNTNAP2 (T1278I)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance

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Items: 32