"Baylor Genetics"[submitter] AND "CNTNAP2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 423756	NM_014141.6(CNTNAP2):c.343A>C (p.Met115Leu)	CNTNAP2 (M115L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1027826	NM_014141.6(CNTNAP2):c.815A>G (p.Asp272Gly)	CNTNAP2 (D272G)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 411996	NM_014141.6(CNTNAP2):c.905A>G (p.Asn302Ser)	CNTNAP2 (N302S)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 198854	NM_014141.6(CNTNAP2):c.1165C>T (p.Arg389Trp)	CNTNAP2 (R389W)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +2 more	GUncertain significance
Select item 193703	NM_014141.6(CNTNAP2):c.1603G>A (p.Glu535Lys)	CNTNAP2 (E535K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 864542	NM_014141.6(CNTNAP2):c.1636A>G (p.Asn546Asp)	CNTNAP2 (N546D)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 647004	NM_014141.6(CNTNAP2):c.2240C>T (p.Ala747Val)	CNTNAP2 (A747V)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 434799	NM_014141.6(CNTNAP2):c.3427G>A (p.Asp1143Asn)	CNTNAP2 (D1143N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 285390	NM_014141.6(CNTNAP2):c.3431C>G (p.Thr1144Ser)	CNTNAP2 (T1144S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 433107	NM_014141.6(CNTNAP2):c.3577G>A (p.Ala1193Thr)	CNTNAP2 (A1193T)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 1033664	NM_014141.6(CNTNAP2):c.3698T>C (p.Leu1233Pro)	CNTNAP2 (L1233P)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 205319	NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr)	CNTNAP2 (I1253T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 468434	NM_014141.6(CNTNAP2):c.3850C>T (p.Arg1284Trp)	CNTNAP2 (R1284W)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 536313	NM_014141.6(CNTNAP2):c.3862C>T (p.Arg1288Cys)	CNTNAP2 (R1288C)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +3 more	GUncertain significance
Select item 1033665	NM_014141.6(CNTNAP2):c.3965T>C (p.Ile1322Thr)	CNTNAP2 (I1322T)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome	GUncertain significance
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic