"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CNTNAP2"[gene] - ClinVar

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

Search results

Items: 34

	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 195292	NM_014141.6(CNTNAP2):c.136G>A (p.Val46Met)	CNTNAP2 (V46M)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 128803	NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +5 more	GBenign/Likely benign
Select item 196459	NM_014141.6(CNTNAP2):c.341G>A (p.Arg114Gln)	CNTNAP2 (R114Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 205303	NM_014141.6(CNTNAP2):c.416A>G (p.Asn139Ser)	CNTNAP2 (N139S)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 15 +3 more	GUncertain significance
Select item 205305	NM_014141.6(CNTNAP2):c.436G>A (p.Val146Ile)	CNTNAP2 (V146I)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 15 +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 128808	NM_014141.6(CNTNAP2):c.485T>G (p.Val162Gly)	CNTNAP2 (V162G)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +3 more	GUncertain significance
Select item 205310	NM_014141.6(CNTNAP2):c.653C>T (p.Thr218Met)	CNTNAP2 (T218M)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
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 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 1011589	NM_014141.6(CNTNAP2):c.875T>A (p.Leu292Gln)	CNTNAP2 (L292Q)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 380435	NM_014141.6(CNTNAP2):c.1033G>A (p.Val345Ile)	CNTNAP2 (V345I)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +2 more	GUncertain significance
Select item 205233	NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn)	CNTNAP2 (S382N)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 15 +4 more	GConflicting classifications of pathogenicity
Select item 205240	NM_014141.6(CNTNAP2):c.1337A>G (p.Asp446Gly)	CNTNAP2 (D446G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 205215	NM_014141.6(CNTNAP2):c.1709C>T (p.Ser570Leu)	CNTNAP2 (S570L)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 15 +3 more	GUncertain significance
Select item 205248	NM_014141.6(CNTNAP2):c.1786G>A (p.Glu596Lys)	CNTNAP2 (E596K)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 573740	NM_014141.6(CNTNAP2):c.1998C>A (p.Ser666Arg)	CNTNAP2 (S666R)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance
Select item 582689	NM_014141.6(CNTNAP2):c.2096C>A (p.Pro699Gln)	CNTNAP2 (P699Q)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 15 +2 more	GUncertain significance
Select item 205256	NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala)	CNTNAP2 (V708A)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 15 +4 more	GConflicting classifications of pathogenicity
Select item 205261	NM_014141.6(CNTNAP2):c.2239G>A (p.Ala747Thr)	CNTNAP2 (A747T)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 15 +3 more	GUncertain significance
Select item 1213132	NM_014141.6(CNTNAP2):c.2945A>G (p.Glu982Gly)	CNTNAP2, LOC126860216 (E982G)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 15 +2 more	GUncertain significance
Select item 205277	NM_014141.6(CNTNAP2):c.2955C>A (p.His985Gln)	CNTNAP2, LOC126860216 (H985Q)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 15 +2 more	GUncertain significance
Select item 420805	NM_014141.6(CNTNAP2):c.3106G>A (p.Ala1036Thr)	CNTNAP2 (A1036T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
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 205280	NM_014141.6(CNTNAP2):c.3155G>A (p.Arg1052His)	CNTNAP2 (R1052H)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 15 +4 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 423625	NM_014141.6(CNTNAP2):c.3271C>G (p.Leu1091Val)	CNTNAP2 (L1091V)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 15 +2 more	GConflicting classifications of pathogenicity
Select item 423369	NM_014141.6(CNTNAP2):c.3289C>T (p.Pro1097Ser)	CNTNAP2 (P1097S)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 15 +2 more	GUncertain significance
Select item 195509	NM_014141.6(CNTNAP2):c.3355C>T (p.Arg1119Cys)	CNTNAP2 (R1119C)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 15 +3 more	GUncertain significance
Select item 166914	NM_014141.6(CNTNAP2):c.3595G>T (p.Ala1199Ser)	CNTNAP2 (A1199S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 205222	NM_014141.6(CNTNAP2):c.3660C>A (p.Thr1220=)	CNTNAP2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 34