C3554306[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1878515	NM_020822.3(KCNT1):c.56_75dup (p.Thr26fs)	KCNT1 (T26fs)	Duplication (frameshift variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more	GUncertain significance
Select item 39593	NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)	KCNT1 (R428Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +3 more	GPathogenic
Select item 39595	NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)	KCNT1 (R474H +1 more)	Single nucleotide variant (missense variant)	KCNT1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 2671671	NM_020822.3(KCNT1):c.1510+8T>G	KCNT1	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5	GUncertain significance
Select item 1339149	NM_020822.3(KCNT1):c.1862C>T (p.Thr621Ile)	KCNT1 (T576I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 129360	NM_020822.3(KCNT1):c.2882G>A (p.Arg961His)	KCNT1 (R961H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1006534	NM_020822.3(KCNT1):c.3132G>C (p.Glu1044Asp)	KCNT1 (E1044D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance

ClinVar