"CNTN2-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 474487	NM_005076.5(CNTN2):c.63C>T (p.Ser21=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5 +1 more	GBenign/Likely benign
Select item 474457	NM_005076.5(CNTN2):c.105C>T (p.Phe35=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5 +1 more	GBenign/Likely benign
Select item 772060	NM_005076.5(CNTN2):c.214C>T (p.Arg72Trp)	CNTN2 (R72W)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5 +2 more	GConflicting classifications of pathogenicity
Select item 541410	NM_005076.5(CNTN2):c.215+6G>C	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5 +1 more	GConflicting classifications of pathogenicity
Select item 581019	NM_005076.5(CNTN2):c.223A>G (p.Met75Val)	CNTN2 (M75V)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5 +2 more	GBenign/Likely benign
Select item 445932	NM_005076.5(CNTN2):c.505C>T (p.Leu169Phe)	CNTN2 (L169F)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5 +2 more	GConflicting classifications of pathogenicity
Select item 474462	NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr)	CNTN2 (P469T)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5 +1 more	GConflicting classifications of pathogenicity
Select item 3057764	NM_005076.5(CNTN2):c.1422C>T (p.Ile474=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	CNTN2-related condition	GLikely benign
Select item 733093	NM_005076.5(CNTN2):c.1653C>T (p.Ile551=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	CNTN2-related condition +1 more	GLikely benign
Select item 422019	NM_005076.5(CNTN2):c.1656C>A (p.Asp552Glu)	CNTN2 (D552E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 474475	NM_005076.5(CNTN2):c.2155G>A (p.Gly719Arg)	CNTN2 (G719R)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5 +1 more	GLikely benign
Select item 772030	NM_005076.5(CNTN2):c.2514G>A (p.Gln838=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5 +1 more	GLikely benign
Select item 1135682	NM_005076.5(CNTN2):c.2835C>T (p.Thr945=)	CNTN2, LOC126805985	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5 +1 more	GLikely benign
Select item 541416	NM_005076.5(CNTN2):c.2964G>A (p.Gly988=)	CNTN2, LOC126805985	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5 +1 more	GBenign