"New York Genome Center"[submitter] AND "KCNT1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 578357	NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu)	KCNT1 (G11E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +2 more	GConflicting classifications of pathogenicity
Select item 374645	NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe)	KCNT1 (L386F +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +2 more	GConflicting classifications of pathogenicity
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 949580	NM_020822.3(KCNT1):c.1346A>G (p.Asn449Ser)	KCNT1 (N404S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 418274	NM_020822.3(KCNT1):c.1718G>A (p.Arg573His)	KCNT1 (R573H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +3 more	GConflicting classifications of pathogenicity
Select item 589059	NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln)	KCNT1 (R613Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1418269	NM_020822.3(KCNT1):c.2050A>C (p.Thr684Pro)	KCNT1 (T639P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GConflicting classifications of pathogenicity
Select item 834105	NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly)	KCNT1 (D689G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GConflicting classifications of pathogenicity
Select item 642169	NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu)	KCNT1 (S1006L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1213750	NM_020822.3(KCNT1):c.3353G>A (p.Arg1118His)	KCNT1 (R1073H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 579353	NM_020822.3(KCNT1):c.3371C>T (p.Ala1124Val)	KCNT1 (A1124V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more	GUncertain significance
Select item 663699	NM_020822.3(KCNT1):c.3488C>T (p.Pro1163Leu)	KCNT1 (P1163L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 848626	NM_020822.3(KCNT1):c.3493A>G (p.Thr1165Ala)	KCNT1 (T1165A +1 more)	Single nucleotide variant (missense variant)	Seizure +2 more	GUncertain significance