CNTNAP2[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1836

<< First< Prev

Page of 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1338836	GRCh38/hg38 7q35(chr7:146062109-146215075)	CNTNAP2	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 1108205	NC_000007.14:g.146115955T>G	CNTNAP2	Single nucleotide variant	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 1170539	NC_000007.14:g.146116001A>G	CNTNAP2	Single nucleotide variant	Cortical dysplasia-focal epilepsy syndrome	GBenign
Select item 468413	NC_000007.14:g.(?_146116001)_(146116993_?)del	CNTNAP2	Deletion	Cortical dysplasia-focal epilepsy syndrome	GPathogenic
Select item 1263242	NC_000007.14:g.146116216GCG[6]	CNTNAP2	Microsatellite (genic upstream transcript variant)	not provided	GBenign
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	Pitt-Hopkins-like 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	Pitt-Hopkins-like 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	Pitt-Hopkins-like syndrome +1 more	GUncertain significance
Select item 359168	NM_014141.5(CNTNAP2):c.-146G>A	CNTNAP2	Single nucleotide variant	Pitt-Hopkins-like syndrome +1 more	GUncertain significance
Select item 359169	NM_014141.5(CNTNAP2):c.-145G>C	CNTNAP2	Single nucleotide variant	Pitt-Hopkins-like 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	not provided +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 205226	NM_014141.6(CNTNAP2):c.-46A>T	CNTNAP2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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 379094	NM_014141.6(CNTNAP2):c.-35G>T	CNTNAP2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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 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 948347	NM_014141.6(CNTNAP2):c.5A>G (p.Gln2Arg)	CNTNAP2 (Q2R)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 2759013	NM_014141.6(CNTNAP2):c.9G>T (p.Ala3=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 513997	NM_014141.6(CNTNAP2):c.9G>C (p.Ala3=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GLikely benign
Select item 1058178	NM_014141.6(CNTNAP2):c.13C>A (p.Pro5Thr)	CNTNAP2 (P5T)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 836566	NM_014141.6(CNTNAP2):c.13C>T (p.Pro5Ser)	CNTNAP2 (P5S)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 1408664	NM_014141.6(CNTNAP2):c.14C>T (p.Pro5Leu)	CNTNAP2 (P5L)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 649000	NM_014141.6(CNTNAP2):c.16C>G (p.Arg6Gly)	CNTNAP2 (R6G)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 1316926	NM_014141.6(CNTNAP2):c.17G>A (p.Arg6His)	CNTNAP2 (R6H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 240883	NM_014141.6(CNTNAP2):c.18C>A (p.Arg6=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 421525	NM_014141.6(CNTNAP2):c.19G>T (p.Ala7Ser)	CNTNAP2 (A7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040547	NM_014141.6(CNTNAP2):c.21C>G (p.Ala7=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 290723	NM_014141.6(CNTNAP2):c.29G>A (p.Gly10Glu)	CNTNAP2 (G10E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715913	NM_014141.6(CNTNAP2):c.35C>T (p.Ala12Val)	CNTNAP2 (A12V)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 205242	NM_014141.6(CNTNAP2):c.37C>T (p.Leu13Phe)	CNTNAP2 (L13F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 945796	NM_014141.6(CNTNAP2):c.41T>C (p.Leu14Pro)	CNTNAP2 (L14P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1141574	NM_014141.6(CNTNAP2):c.45G>A (p.Leu15=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 289060	NM_014141.6(CNTNAP2):c.48G>T (p.Trp16Cys)	CNTNAP2 (W16C)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 1033666	NM_014141.6(CNTNAP2):c.55A>G (p.Ser19Gly)	CNTNAP2 (S19G)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 420476	NM_014141.6(CNTNAP2):c.56G>C (p.Ser19Thr)	CNTNAP2 (S19T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 755842	NM_014141.6(CNTNAP2):c.57C>T (p.Ser19=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1504341	NM_014141.6(CNTNAP2):c.62G>A (p.Cys21Tyr)	CNTNAP2 (C21Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 205311	NM_014141.6(CNTNAP2):c.65T>C (p.Leu22Pro)	CNTNAP2 (L22P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 166907	NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr)	CNTNAP2 (A25T)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3257470	NM_014141.6(CNTNAP2):c.81G>A (p.Thr27=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 205214	NM_014141.6(CNTNAP2):c.83C>T (p.Ala28Val)	CNTNAP2 (A28V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2118821	NM_014141.6(CNTNAP2):c.89C>G (p.Ser30Cys)	CNTNAP2 (S30C)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 1920453	NM_014141.6(CNTNAP2):c.90C>T (p.Ser30=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 1442425	NM_014141.6(CNTNAP2):c.92C>G (p.Thr31Arg)	CNTNAP2 (T31R)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 2121345	NM_014141.6(CNTNAP2):c.97C>G (p.Gln33Glu)	CNTNAP2 (Q33E)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 193370	NM_014141.6(CNTNAP2):c.97C>A (p.Gln33Lys)	CNTNAP2 (Q33K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 638371	NM_014141.6(CNTNAP2):c.97+1G>A	CNTNAP2	Single nucleotide variant (splice donor variant)	Cortical dysplasia-focal epilepsy syndrome	GPathogenic/Likely pathogenic
Select item 981320	NM_014141.6(CNTNAP2):c.97+3A>T	CNTNAP2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely pathogenic
Select item 2102593	NM_014141.6(CNTNAP2):c.97+19G>A	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 1186744	NM_014141.6(CNTNAP2):c.97+22C>T	CNTNAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191048	NM_014141.6(CNTNAP2):c.97+49T>G	CNTNAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 146810	GRCh38/hg38 7q35(chr7:146237454-146437866)x1	CNTNAP2	Copy number loss	See cases	GUncertain significance
Select item 3024371	GRCh38/hg38 7q35(chr7:146320644-146339450)	CNTNAP2	Copy number loss	Autism spectrum disorder	GLikely benign
Select item 150738	GRCh38/hg38 7q35(chr7:146372225-146496919)x1	CNTNAP2	Copy number loss	See cases	GUncertain significance
Select item 149740	GRCh38/hg38 7q35(chr7:146529302-146557642)x3	CNTNAP2	Copy number gain	See cases	GLikely benign
Select item 1277265	NM_014141.6(CNTNAP2):c.98-240771G>A	CNTNAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181577	NM_014141.6(CNTNAP2):c.98-240662G>A	CNTNAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267036	NM_014141.6(CNTNAP2):c.98-240362T>G	CNTNAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252228	NM_014141.6(CNTNAP2):c.98-190677C>T	CNTNAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1342814	NM_014141.6(CNTNAP2):c.98-140690T>C	CNTNAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 148273	GRCh38/hg38 7q35(chr7:146649010-146778666)x1	CNTNAP2	Copy number loss	See cases	GLikely pathogenic
Select item 58929	GRCh38/hg38 7q35(chr7:146652508-146770440)x1	CNTNAP2	Copy number loss	See cases	GUncertain significance
Select item 1526291	NM_014141.6(CNTNAP2):c.98-91041A>C	CNTNAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1321706	NM_014141.6(CNTNAP2):c.98-90923A>C	CNTNAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1325980	NM_014141.6(CNTNAP2):c.98-90894A>C	CNTNAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266298	NM_014141.6(CNTNAP2):c.98-90785C>A	CNTNAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226302	NM_014141.6(CNTNAP2):c.98-90737G>T	CNTNAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326525	NM_014141.6(CNTNAP2):c.98-90671A>G	CNTNAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 148978	GRCh38/hg38 7q35(chr7:146743098-146778666)x1	CNTNAP2	Copy number loss	See cases	GUncertain significance
Select item 668784	NM_014141.6(CNTNAP2):c.98-279C>A	CNTNAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672498	NM_014141.6(CNTNAP2):c.98-190G>T	CNTNAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676012	NM_014141.6(CNTNAP2):c.98-104A>G	CNTNAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219465	NM_014141.6(CNTNAP2):c.98-56C>A	CNTNAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673527	NM_014141.6(CNTNAP2):c.98-41G>A	CNTNAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2141361	NM_014141.6(CNTNAP2):c.98-21CT[2]	CNTNAP2	Microsatellite (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 205224	NM_014141.6(CNTNAP2):c.98-19_98-16del	CNTNAP2	Microsatellite (intron variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GBenign
Select item 1972953	NM_014141.6(CNTNAP2):c.98-20T>A	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 640453	NC_000007.14:g.(?_146774251)_(146774401_?)del	CNTNAP2	Deletion	Cortical dysplasia-focal epilepsy syndrome	GLikely pathogenic
Select item 379668	NM_014141.6(CNTNAP2):c.98-20T>G	CNTNAP2	Single nucleotide variant (intron variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GLikely benign
Select item 1068303	NM_014141.6(CNTNAP2):c.98-1G>A	CNTNAP2	Single nucleotide variant (splice acceptor variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely pathogenic
Select item 1316526	NM_014141.6(CNTNAP2):c.98A>G (p.Gln33Arg)	CNTNAP2 (Q33R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 417572	NC_000007.14:g.(?_146774271)_(146774381_?)del	CNTNAP2	Deletion	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 1045444	NM_014141.6(CNTNAP2):c.102A>C (p.Lys34Asn)	CNTNAP2 (K34N)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 853606	NM_014141.6(CNTNAP2):c.103T>C (p.Cys35Arg)	CNTNAP2 (C35R)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 2752194	NM_014141.6(CNTNAP2):c.108T>C (p.Asp36=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 1612092	NM_014141.6(CNTNAP2):c.111G>A (p.Glu37=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign
Select item 1498284	NM_014141.6(CNTNAP2):c.112C>T (p.Pro38Ser)	CNTNAP2 (P38S)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 1318813	NM_014141.6(CNTNAP2):c.112C>G (p.Pro38Ala)	CNTNAP2 (P38A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104583	NM_014141.6(CNTNAP2):c.114A>C (p.Pro38=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome	GLikely benign

<< First< Prev

Page of 19