"Center for Genomics, Ann and Robert H. Lurie Children's Hospital of C - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 626089	NM_014141.6(CNTNAP2):c.324T>C (p.Asp108=)	CNTNAP2	Single nucleotide variant (synonymous variant)	Cortical dysplasia-focal epilepsy syndrome +1 more	GConflicting classifications of pathogenicity
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 136809	NM_014141.6(CNTNAP2):c.755-5C>T	CNTNAP2	Single nucleotide variant (intron variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 205233	NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn)	CNTNAP2 (S382N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 205256	NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala)	CNTNAP2 (V708A)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 15 +5 more	GConflicting classifications of pathogenicity
Select item 194401	NM_014141.6(CNTNAP2):c.2242G>T (p.Asp748Tyr)	CNTNAP2 (D748Y)	Single nucleotide variant (missense variant)	Cortical dysplasia-focal epilepsy syndrome +4 more	GUncertain significance
Select item 452326	NM_014141.6(CNTNAP2):c.3010G>A (p.Asp1004Asn)	CNTNAP2, LOC126860216 (D1004N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 95572	NM_014141.6(CNTNAP2):c.3716-6C>G	CNTNAP2	Single nucleotide variant (intron variant)	Autism, susceptibility to, 15 +2 more	GConflicting classifications of pathogenicity