C3554306[trait identifier] AND "Génétique des Maladies du Développemen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 126421	NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser)	KCNT1 (G288S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +2 more	GPathogenic
Select item 39593	NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)	KCNT1 (R428Q +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +3 more	GPathogenic
Select item 39595	NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)	KCNT1 (R474H +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +5 more	GConflicting classifications of pathogenicity
Select item 813780	NM_020822.3(KCNT1):c.2126G>A (p.Ser709Asn)	KCNT1 (S709N +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5	GUncertain significance
Select item 813753	NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)	KCNT1 (M851V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 39597	NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)	KCNT1 (R928C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +2 more	GPathogenic
Select item 810472	NM_020822.3(KCNT1):c.2798G>A (p.Arg933His)	KCNT1 (R888H +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +2 more	GConflicting classifications of pathogenicity
Select item 1525584	NM_020822.3(KCNT1):c.2800G>T (p.Ala934Ser)	KCNT1 (A934S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely pathogenic
Select item 813731	NM_020822.3(KCNT1):c.2824C>T (p.Leu942Phe)	KCNT1 (L942F +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5	GLikely pathogenic
Select item 286710	NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)	KCNT1 (R950Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 575241	NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)	KCNT1 (A966T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity