C3809374[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1649653	NM_005076.5(CNTN2):c.391+12G>A	CNTN2	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GBenign/Likely benign
Select item 706995	NM_005076.5(CNTN2):c.1287C>T (p.Pro429=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5	GBenign/Likely benign
Select item 474462	NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr)	CNTN2 (P469T)	Single nucleotide variant (missense variant +1 more)	CNTN2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 474464	NM_005076.5(CNTN2):c.1460C>T (p.Thr487Ile)	CNTN2 (T487I)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5 +1 more	GConflicting classifications of pathogenicity
Select item 474466	NM_005076.5(CNTN2):c.1695G>A (p.Val565=)	CNTN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial adult myoclonic, 5 +1 more	GUncertain significance
Select item 474472	NM_005076.5(CNTN2):c.1975A>G (p.Asn659Asp)	CNTN2 (N659D)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 5	GBenign
Select item 572426	NM_005076.5(CNTN2):c.2741G>A (p.Arg914Gln)	CNTN2, LOC126805985 (R914Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1596797	NM_005076.5(CNTN2):c.2844+11A>C	CNTN2, LOC126805985	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 5	GLikely benign