C3150986[trait identifier] AND "Génétique des Maladies du Développemen - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 813775	NM_172107.4(KCNQ2):c.1690G>A (p.Val564Met)	KCNQ2 (V546M +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +1 more	GConflicting classifications of pathogenicity
Select item 205913	NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp)	KCNQ2 (R553W +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GPathogenic
Select item 21762	NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter)	KCNQ2 (R448* +3 more)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GPathogenic
Select item 576538	NM_172107.4(KCNQ2):c.928G>A (p.Gly310Ser)	KCNQ2 (G310S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +2 more	GPathogenic/Likely pathogenic
Select item 369772	NM_172107.4(KCNQ2):c.926C>T (p.Ala309Val)	KCNQ2 (A309V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +1 more	GPathogenic
Select item 7382	NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr)	KCNQ2 (A306T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 205886	NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)	KCNQ2 (A294V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GPathogenic
Select item 975979	NM_172107.4(KCNQ2):c.766G>A (p.Gly256Arg)	KCNQ2 (G256R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 813771	NM_172107.4(KCNQ2):c.739T>C (p.Ser247Pro)	KCNQ2 (S247P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 813779	NM_172107.4(KCNQ2):c.650C>T (p.Thr217Ile)	KCNQ2 (T217I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic/Likely pathogenic
Select item 39760	NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)	KCNQ2 (R213Q)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 452487	NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)	KCNQ2 (R144W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1676605	NM_172107.4(KCNQ2):c.49G>T (p.Glu17Ter)	KCNQ2 (E17*)	Single nucleotide variant	Developmental and epileptic encephalopathy, 7	GLikely pathogenic