"Ambry Genetics"[submitter] AND "LOC126860216"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 846300	NM_014141.6(CNTNAP2):c.2833G>A (p.Val945Met)	LOC126860216, CNTNAP2 (V945M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1796899	NM_014141.6(CNTNAP2):c.2857G>C (p.Ala953Pro)	CNTNAP2, LOC126860216 (A953P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 205275	NM_014141.6(CNTNAP2):c.2891C>T (p.Ser964Leu)	CNTNAP2, LOC126860216 (S964L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 95565	NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +3 more	GBenign/Likely benign
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
Select item 1798098	NM_014141.6(CNTNAP2):c.2955C>T (p.His985=)	CNTNAP2, LOC126860216	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 412001	NM_014141.6(CNTNAP2):c.2968G>A (p.Asp990Asn)	CNTNAP2, LOC126860216 (D990N)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GUncertain significance

ClinVar