"Illumina Laboratory Services, Illumina"[submitter] AND "CNTNAP2"[gene - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 359160	NM_014141.5(CNTNAP2):c.-454G>T	CNTNAP2	Single nucleotide variant	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 359161	NM_014141.5(CNTNAP2):c.-439C>T	CNTNAP2	Single nucleotide variant	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 359162	NM_014141.5(CNTNAP2):c.-394C>T	CNTNAP2	Single nucleotide variant	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 359163	NM_014141.5(CNTNAP2):c.-331dup	CNTNAP2	Duplication	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 359164	NM_014141.5(CNTNAP2):c.-331delT	CNTNAP2	Deletion	Cortical dysplasia-focal epilepsy syndrome +2 more	GConflicting classifications of pathogenicity
Select item 359165	NM_014141.5(CNTNAP2):c.-329A>T	CNTNAP2	Single nucleotide variant	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 359166	NM_014141.5(CNTNAP2):c.-218A>G	CNTNAP2	Single nucleotide variant	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 359167	NM_014141.5(CNTNAP2):c.-168C>G	CNTNAP2	Single nucleotide variant	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 359168	NM_014141.5(CNTNAP2):c.-146G>A	CNTNAP2	Single nucleotide variant	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 359169	NM_014141.5(CNTNAP2):c.-145G>C	CNTNAP2	Single nucleotide variant	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 359170	NM_014141.5(CNTNAP2):c.-135G>A	CNTNAP2	Single nucleotide variant	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 359171	NM_014141.5(CNTNAP2):c.-115G>A	CNTNAP2	Single nucleotide variant	Cortical dysplasia-focal epilepsy syndrome +2 more	GBenign
Select item 359172	NM_014141.6(CNTNAP2):c.-61G>A	CNTNAP2	Single nucleotide variant (5 prime UTR variant)	Pitt-Hopkins-like syndrome +1 more	GUncertain significance
Select item 136837	NM_014141.6(CNTNAP2):c.-49T>G	CNTNAP2	Single nucleotide variant (5 prime UTR variant)	Pitt-Hopkins-like syndrome +2 more	GConflicting classifications of pathogenicity
Select item 911168	NM_014141.6(CNTNAP2):c.-36C>A	CNTNAP2	Single nucleotide variant (5 prime UTR variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 136838	NM_014141.6(CNTNAP2):c.-32C>T	CNTNAP2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 359173	NM_014141.6(CNTNAP2):c.-18C>G	CNTNAP2	Single nucleotide variant (5 prime UTR variant)	Pitt-Hopkins-like syndrome +1 more	GUncertain significance
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 359174	NM_014141.6(CNTNAP2):c.59G>A (p.Ser20Asn)	CNTNAP2 (S20N)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like 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 359175	NM_014141.6(CNTNAP2):c.87C>T (p.Pro29=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome +2 more	GConflicting classifications of pathogenicity
Select item 359176	NM_014141.6(CNTNAP2):c.209-11C>T	CNTNAP2	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome +2 more	GConflicting classifications of pathogenicity
Select item 205301	NM_014141.6(CNTNAP2):c.286A>G (p.Ser96Gly)	CNTNAP2 (S96G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 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 205305	NM_014141.6(CNTNAP2):c.436G>A (p.Val146Ile)	CNTNAP2 (V146I)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +2 more	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 908394	NM_014141.6(CNTNAP2):c.489T>G (p.Pro163=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 205308	NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr)	CNTNAP2 (I172T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 359177	NM_014141.6(CNTNAP2):c.550+10G>A	CNTNAP2	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome +1 more	GConflicting classifications of pathogenicity
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 909244	NM_014141.6(CNTNAP2):c.592T>C (p.Tyr198His)	CNTNAP2 (Y198H)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
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 359178	NM_014141.6(CNTNAP2):c.637G>A (p.Ala213Thr)	CNTNAP2 (A213T)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome +1 more	GUncertain significance
Select item 359179	NM_014141.6(CNTNAP2):c.645C>T (p.Asn215=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome +2 more	GConflicting classifications of pathogenicity
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 911242	NM_014141.6(CNTNAP2):c.687A>G (p.Glu229=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 359180	NM_014141.6(CNTNAP2):c.823C>T (p.His275Tyr)	CNTNAP2 (H275Y)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like 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 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 911243	NM_014141.6(CNTNAP2):c.901A>G (p.Thr301Ala)	CNTNAP2 (T301A)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 359181	NM_014141.6(CNTNAP2):c.910G>C (p.Glu304Gln)	CNTNAP2 (E304Q)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome +1 more	GUncertain significance
Select item 128809	NM_014141.6(CNTNAP2):c.939+8T>A	CNTNAP2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 377704	NM_014141.6(CNTNAP2):c.939+14C>T	CNTNAP2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 198559	NM_014141.6(CNTNAP2):c.945C>G (p.Thr315=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 359182	NM_014141.6(CNTNAP2):c.983G>A (p.Ser328Asn)	CNTNAP2 (S328N)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome +2 more	GUncertain significance
Select item 380435	NM_014141.6(CNTNAP2):c.1033G>A (p.Val345Ile)	CNTNAP2 (V345I)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 15 +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 205231	NM_014141.6(CNTNAP2):c.1099T>C (p.Ser367Pro)	CNTNAP2 (S367P)	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 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 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)	not specified +2 more	GBenign/Likely benign
Select item 834678	NM_014141.6(CNTNAP2):c.1248G>A (p.Ala416=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GConflicting classifications of pathogenicity
Select item 359183	NM_014141.6(CNTNAP2):c.1257G>A (p.Leu419=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome +1 more	GUncertain significance
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 205213	NM_014141.6(CNTNAP2):c.1348+13T>G	CNTNAP2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 908466	NM_014141.6(CNTNAP2):c.1391T>A (p.Leu464Gln)	CNTNAP2 (L464Q)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
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 166911	NM_014141.6(CNTNAP2):c.1504C>G (p.Leu502Val)	CNTNAP2 (L502V)	Single nucleotide variant (missense variant)	CNTNAP2-related condition +3 more	GUncertain significance
Select item 909310	NM_014141.6(CNTNAP2):c.1623G>A (p.Pro541=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GConflicting classifications of pathogenicity
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)	Inborn genetic diseases +4 more	GUncertain significance
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 359184	NM_014141.6(CNTNAP2):c.1733G>A (p.Cys578Tyr)	CNTNAP2 (C578Y)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome +1 more	GUncertain significance
Select item 205216	NM_014141.6(CNTNAP2):c.1777+7G>A	CNTNAP2	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 95559	NM_014141.6(CNTNAP2):c.1777+10A>G	CNTNAP2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 136814	NM_014141.6(CNTNAP2):c.1777+13T>G	CNTNAP2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 205248	NM_014141.6(CNTNAP2):c.1786G>A (p.Glu596Lys)	CNTNAP2 (E596K)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 128802	NM_014141.6(CNTNAP2):c.1854C>T (p.Gly618=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome +4 more	GBenign/Likely benign
Select item 536323	NM_014141.6(CNTNAP2):c.1882T>C (p.Tyr628His)	CNTNAP2 (Y628H)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
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 910284	NM_014141.6(CNTNAP2):c.1915A>G (p.Ile639Val)	CNTNAP2 (I639V)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 205253	NM_014141.6(CNTNAP2):c.1943C>T (p.Thr648Met)	CNTNAP2 (T648M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 910285	NM_014141.6(CNTNAP2):c.2038G>A (p.Glu680Lys)	CNTNAP2 (E680K)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 136816	NM_014141.6(CNTNAP2):c.2099-15T>C	CNTNAP2	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome +2 more	GBenign/Likely benign
Select item 359185	NM_014141.6(CNTNAP2):c.2122G>T (p.Val708Phe)	CNTNAP2 (V708F)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome +2 more	GUncertain significance
Select item 136817	NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 359186	NM_014141.6(CNTNAP2):c.2241G>A (p.Ala747=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome +1 more	GConflicting classifications of pathogenicity
Select item 194401	NM_014141.6(CNTNAP2):c.2242G>T (p.Asp748Tyr)	CNTNAP2 (D748Y)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +4 more	GUncertain significance
Select item 359187	NM_014141.6(CNTNAP2):c.2255+12C>T	CNTNAP2	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome +1 more	GConflicting classifications of pathogenicity
Select item 95561	NM_014141.6(CNTNAP2):c.2256-6A>T	CNTNAP2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 95562	NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 210741	NM_014141.6(CNTNAP2):c.2340A>G (p.Ser780=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 194530	NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu)	CNTNAP2 (V786L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 908534	NM_014141.6(CNTNAP2):c.2368C>A (p.Arg790Ser)	CNTNAP2 (R790S)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 359188	NM_014141.6(CNTNAP2):c.2422T>C (p.Ser808Pro)	CNTNAP2 (S808P)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome +1 more	GUncertain significance
Select item 359189	NM_014141.6(CNTNAP2):c.2460C>T (p.Ser820=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +2 more	GConflicting classifications of pathogenicity
Select item 136818	NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 359190	NM_014141.6(CNTNAP2):c.2554+14G>T	CNTNAP2	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome +2 more	GConflicting classifications of pathogenicity
Select item 359191	NM_014141.6(CNTNAP2):c.2570C>A (p.Ser857Tyr)	CNTNAP2 (S857Y)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like 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 205271	NM_014141.6(CNTNAP2):c.2651G>A (p.Arg884Gln)	CNTNAP2 (R884Q)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +2 more	GConflicting classifications of pathogenicity
Select item 136820	NM_014141.6(CNTNAP2):c.2895C>A (p.Gly965=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +2 more	GBenign/Likely benign

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