"Baylor Genetics"[submitter] AND "KCNT1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 561039	NM_020822.3(KCNT1):c.800T>C (p.Met267Thr)	KCNT1 (M267T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +3 more	GPathogenic/Likely pathogenic
Select item 126421	NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser)	KCNT1 (G288S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1029789	NM_020822.3(KCNT1):c.880C>T (p.Arg294Trp)	KCNT1 (R249W +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5	GUncertain significance
Select item 1029790	NM_020822.3(KCNT1):c.980C>T (p.Ser327Leu)	KCNT1 (S327L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5	GUncertain significance
Select item 389450	NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp)	KCNT1 (R356W +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +3 more	GPathogenic/Likely pathogenic
Select item 39599	NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)	KCNT1 (R398Q +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 39595	NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)	KCNT1 (R474H +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 1032867	NM_020822.3(KCNT1):c.1769+6G>A	KCNT1	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more	GUncertain significance
Select item 1009174	NM_020822.3(KCNT1):c.2728C>T (p.Arg910Trp)	KCNT1 (R865W +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 39597	NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)	KCNT1 (R928C +1 more)	Single nucleotide variant (missense variant)	Seizure +3 more	GPathogenic
Select item 561038	NM_020822.3(KCNT1):c.2795T>C (p.Phe932Ser)	KCNT1 (F932S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14	GUncertain significance
Select item 39594	NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr)	KCNT1 (A934T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +2 more	GPathogenic
Select item 129360	NM_020822.3(KCNT1):c.2882G>A (p.Arg961His)	KCNT1 (R961H +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1029788	NM_020822.3(KCNT1):c.3046G>T (p.Asp1016Tyr)	KCNT1 (D1016Y +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance