C3150986[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 582445	NM_172107.4(KCNQ2):c.2474C>G (p.Ala825Gly)	KCNQ2 (A825G +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 930306	NM_172107.4(KCNQ2):c.2272_2286del (p.Gly758_Ser762del)	KCNQ2	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 7	GUncertain significance
Select item 809267	NM_172107.4(KCNQ2):c.2245G>A (p.Glu749Lys)	KCNQ2 (E731K +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 803618	NM_172107.4(KCNQ2):c.1997C>T (p.Pro666Leu)	KCNQ2 (P638L +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GConflicting classifications of pathogenicity
Select item 930863	NM_172107.4(KCNQ2):c.1828G>A (p.Glu610Lys)	KCNQ2 (E579K +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 373925	NM_172107.4(KCNQ2):c.1067T>G (p.Leu356Arg)	KCNQ2 (L356R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 339336	NM_172107.4(KCNQ2):c.691-5C>T	KCNQ2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 931897	NM_172107.4(KCNQ2):c.199C>T (p.Pro67Ser)	KCNQ2 (P67S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance