13830[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 149558	GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4	ACTR3C, ARHGEF35 +172 more	Copy number gain	See cases	GLikely pathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 155351	GRCh38/hg38 7q35(chr7:145744123-146198176)x1	CNTNAP2, LOC126860215 +2 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 146688	GRCh38/hg38 7q35-36.1(chr7:145999194-148860586)x1	C7orf33, CNTNAP2 +26 more	Copy number loss	See cases	GLikely pathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
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 584067	NC_000007.13:g.(?_145813093)_(146537016_?)dup	CNTNAP2, LOC123956262 +1 more	Duplication	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
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	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	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)	Inborn genetic diseases +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 5494	NM_014141.5(CNTNAP2):c.(?_97)+117643_(1670_?)+6605del	CNTNAP2, CNTNAP2-AS1 +3 more	Deletion	Cortical dysplasia-focal epilepsy syndrome	GPathogenic
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 154305	GRCh38/hg38 7q35(chr7:146539138-146966208)x1	CNTNAP2, LOC123956262 +1 more	Copy number loss	See cases	GUncertain significance
Select item 1252228	NM_014141.6(CNTNAP2):c.98-190677C>T	CNTNAP2	Single nucleotide variant (intron variant)	not provided	GBenign

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