KCNT2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	LOC126805952, LOC126805953 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic
Select item 146285	GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1	ASPM, ATP6V1G3 +173 more	Copy number loss	See cases	GPathogenic
Select item 150845	GRCh38/hg38 1q31.3(chr1:194260752-196604554)x1	KCNT2, LINC01724 +16 more	Copy number loss	See cases	GUncertain significance
Select item 144568	GRCh38/hg38 1q31.3(chr1:195374956-196542209)x1	KCNT2, LINC01724 +5 more	Copy number loss	See cases	GUncertain significance
Select item 146109	GRCh38/hg38 1q31.3(chr1:195514309-197896494)x1	ASPM, CFH +36 more	Copy number loss	See cases	GPathogenic
Select item 147700	GRCh38/hg38 1q31.3(chr1:196042751-196239755)x3	KCNT2, LINC01724	Copy number gain	See cases	GBenign
Select item 3057315	NM_198503.5(KCNT2):c.3407G>A (p.Ter1136=)	KCNT2	Single nucleotide variant (synonymous variant +1 more)	KCNT2-related condition	GLikely benign
Select item 2639673	NM_198503.5(KCNT2):c.3333A>C (p.Pro1111=)	KCNT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2229520	NM_198503.5(KCNT2):c.3316C>T (p.Pro1106Ser)	KCNT2 (P1082S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2662055	NM_198503.5(KCNT2):c.3299A>G (p.Tyr1100Cys)	KCNT2 (Y1033C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1805731	NM_198503.5(KCNT2):c.3289G>A (p.Asp1097Asn)	KCNT2 (D1030N +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 57	GUncertain significance
Select item 2523446	NM_198503.5(KCNT2):c.3272C>T (p.Thr1091Ile)	KCNT2 (T1067I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3048030	NM_198503.5(KCNT2):c.3250C>T (p.Leu1084=)	KCNT2	Single nucleotide variant (synonymous variant +1 more)	KCNT2-related condition	GLikely benign
Select item 2577639	NM_198503.5(KCNT2):c.3190G>A (p.Gly1064Ser)	KCNT2 (G1040S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2282302	NM_198503.5(KCNT2):c.3150A>C (p.Gln1050His)	KCNT2 (Q983H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1236194	NM_198503.5(KCNT2):c.3119G>T (p.Arg1040Leu)	KCNT2 (R1016L +2 more)	Single nucleotide variant (missense variant +1 more)	Seizure +1 more	GLikely benign
Select item 2444068	NM_198503.5(KCNT2):c.3055C>T (p.Arg1019Ter)	KCNT2 (R1019* +2 more)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 57	GLikely pathogenic
Select item 2504343	NM_198503.5(KCNT2):c.3020A>C (p.His1007Pro)	KCNT2 (H1007P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2639674	NM_198503.5(KCNT2):c.3014C>T (p.Ser1005Leu)	KCNT2 (S1005L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1229710	NM_198503.5(KCNT2):c.3009T>C (p.Asp1003=)	KCNT2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1684829	NM_198503.5(KCNT2):c.2953G>A (p.Asp985Asn)	KCNT2 (D918N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1878767	NM_198503.5(KCNT2):c.2945A>C (p.Asp982Ala)	KCNT2 (D915A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2547311	NM_198503.5(KCNT2):c.2919A>G (p.Ile973Met)	KCNT2 (I906M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2639675	NM_198503.5(KCNT2):c.2910+7387T>C	KCNT2 (S902P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3075987	NM_198503.5(KCNT2):c.2910+7375C>T	KCNT2 (R898*)	Single nucleotide variant (nonsense +2 more)	not specified	GLikely benign
Select item 2639676	NM_198503.5(KCNT2):c.2910+8A>G	KCNT2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2412906	NM_198503.5(KCNT2):c.2846C>A (p.Ser949Tyr)	KCNT2 (S875Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679579	NM_198503.5(KCNT2):c.2831A>G (p.Tyr944Cys)	KCNT2 (Y870C +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 57	GUncertain significance
Select item 3026761	NM_198503.5(KCNT2):c.2822C>A (p.Ala941Asp)	KCNT2 (A867D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1313063	NM_198503.5(KCNT2):c.2755A>G (p.Thr919Ala)	KCNT2 (T845A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3033615	NM_198503.5(KCNT2):c.2698-21GTTT[2]	KCNT2	Microsatellite (intron variant)	KCNT2-related condition	GLikely benign
Select item 1213788	NM_198503.5(KCNT2):c.2680G>A (p.Asp894Asn)	KCNT2 (D820N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 57	GUncertain significance
Select item 2442740	NM_198503.5(KCNT2):c.2675T>G (p.Met892Arg)	KCNT2 (M818R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1341792	NM_198503.5(KCNT2):c.2674A>G (p.Met892Val)	KCNT2 (M818V +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 57	GUncertain significance
Select item 1700479	NM_198503.5(KCNT2):c.2636G>A (p.Arg879Gln)	KCNT2 (R805Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1711232	NM_198503.5(KCNT2):c.2596-4150C>G	KCNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 155077	GRCh38/hg38 1q31.3(chr1:196301629-196775650)x1	CFH, CFHR3 +5 more	Copy number loss	See cases	GUncertain significance
Select item 3035089	NM_198503.5(KCNT2):c.2595+7C>T	KCNT2	Single nucleotide variant (intron variant)	KCNT2-related condition	GBenign
Select item 871207	NM_198503.5(KCNT2):c.2560G>A (p.Asp854Asn)	KCNT2 (D780N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2477869	NM_198503.5(KCNT2):c.2534T>G (p.Met845Arg)	KCNT2 (M771R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3052890	NM_198503.5(KCNT2):c.2526C>T (p.Pro842=)	KCNT2	Single nucleotide variant (synonymous variant +1 more)	KCNT2-related condition	GLikely benign
Select item 1320260	NM_198503.5(KCNT2):c.2501_2507del (p.Ser834fs)	KCNT2 (S760fs +2 more)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 57	GLikely pathogenic
Select item 2428904	NM_198503.5(KCNT2):c.2419A>G (p.Met807Val)	KCNT2 (M733V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2639677	NM_198503.5(KCNT2):c.2317A>C (p.Met773Leu)	KCNT2 (M773L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2572835	NM_198503.5(KCNT2):c.2309G>T (p.Trp770Leu)	KCNT2 (W770L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1704832	NM_198503.5(KCNT2):c.2306G>C (p.Cys769Ser)	KCNT2 (C769S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2575843	NM_198503.5(KCNT2):c.2283T>G (p.Asp761Glu)	KCNT2 (D761E)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 1810673	NM_198503.5(KCNT2):c.2277-1G>C	KCNT2	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2570745	NM_198503.5(KCNT2):c.2266T>C (p.Leu756=)	KCNT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1703445	NM_198503.5(KCNT2):c.2266T>G (p.Leu756Val)	KCNT2 (L706V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 871208	NM_198503.5(KCNT2):c.2249A>G (p.Asn750Ser)	KCNT2 (N750S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3040844	NM_198503.5(KCNT2):c.2219G>A (p.Arg740Lys)	KCNT2 (R690K +1 more)	Single nucleotide variant (missense variant +1 more)	KCNT2-related condition	GUncertain significance
Select item 2570746	NM_198503.5(KCNT2):c.2209G>C (p.Val737Leu)	KCNT2 (V687L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2626974	NM_198503.5(KCNT2):c.2182G>A (p.Ala728Thr)	KCNT2 (A678T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2501623	NM_198503.5(KCNT2):c.2123A>G (p.Tyr708Cys)	KCNT2 (Y658C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 871209	NM_198503.5(KCNT2):c.2073A>T (p.Lys691Asn)	KCNT2 (K641N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2291883	NM_198503.5(KCNT2):c.1998-5T>C	KCNT2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2556140	NM_198503.5(KCNT2):c.1934A>G (p.Asp645Gly)	KCNT2 (D595G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2444792	NM_198503.5(KCNT2):c.1928C>T (p.Thr643Ile)	KCNT2 (T593I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2288015	NM_198503.5(KCNT2):c.1919C>T (p.Ser640Leu)	KCNT2 (S590L +1 more)	Single nucleotide variant (missense variant +1 more)	KCNT2-related condition +2 more	GLikely benign
Select item 2505631	NM_198503.5(KCNT2):c.1915T>A (p.Ser639Thr)	KCNT2 (S589T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2573793	NM_198503.5(KCNT2):c.1903G>C (p.Val635Leu)	KCNT2 (V585L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2682524	NM_198503.5(KCNT2):c.1884C>T (p.Ser628=)	KCNT2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2486470	NM_198503.5(KCNT2):c.1879C>G (p.Pro627Ala)	KCNT2 (P577A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239532	NM_198503.5(KCNT2):c.1870A>G (p.Ile624Val)	KCNT2 (I574V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2483387	NM_198503.5(KCNT2):c.1804C>G (p.Gln602Glu)	KCNT2 (Q552E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261257	NM_198503.5(KCNT2):c.1745C>T (p.Pro582Leu)	KCNT2 (P532L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1177518	NM_198503.5(KCNT2):c.1731_1738del (p.Phe578fs)	KCNT2 (F528fs +1 more)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 57	GLikely pathogenic
Select item 3025888	NM_198503.5(KCNT2):c.1730C>T (p.Ser577Leu)	KCNT2 (S527L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 695093	NM_198503.5(KCNT2):c.1690A>T (p.Lys564Ter)	KCNT2 (K514* +1 more)	Single nucleotide variant (nonsense +1 more)	Seizure	GLikely pathogenic
Select item 1802558	NM_198503.5(KCNT2):c.1667C>T (p.Thr556Ile)	KCNT2 (T506I +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 57	GLikely pathogenic
Select item 2487401	NM_198503.5(KCNT2):c.1627A>G (p.Ile543Val)	KCNT2 (I493V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1710240	NM_198503.5(KCNT2):c.1621C>T (p.Arg541Ter)	KCNT2 (R491* +1 more)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 57	GPathogenic
Select item 2429020	NM_198503.5(KCNT2):c.1616G>T (p.Gly539Val)	KCNT2 (G489V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2311188	NM_198503.5(KCNT2):c.1607T>C (p.Leu536Pro)	KCNT2 (L536P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2663655	NM_198503.5(KCNT2):c.1589A>T (p.Asp530Val)	KCNT2 (D480V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 740143	NM_198503.5(KCNT2):c.1582A>C (p.Arg528=)	KCNT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2433047	NM_198503.5(KCNT2):c.1561G>A (p.Val521Ile)	KCNT2 (V471I +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 57	GUncertain significance
Select item 2504224	NM_198503.5(KCNT2):c.1559G>A (p.Gly520Asp)	KCNT2 (G470D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1699767	NM_198503.5(KCNT2):c.1528T>C (p.Tyr510His)	KCNT2 (Y510H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1694539	NM_198503.5(KCNT2):c.1509T>C (p.Tyr503=)	KCNT2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2639678	NM_198503.5(KCNT2):c.1478T>C (p.Val493Ala)	KCNT2 (V493A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 3036516	NM_198503.5(KCNT2):c.1455C>T (p.Ser485=)	KCNT2	Single nucleotide variant (synonymous variant +2 more)	KCNT2-related condition	GLikely benign
Select item 2639679	NM_198503.5(KCNT2):c.1452C>A (p.Cys484Ter)	KCNT2 (C484*)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 2639680	NM_198503.5(KCNT2):c.1451G>T (p.Cys484Phe)	KCNT2 (C484F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3025977	NM_198503.5(KCNT2):c.1419G>A (p.Ser473=)	KCNT2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1313982	NM_198503.5(KCNT2):c.1361C>T (p.Thr454Ile)	KCNT2 (T454I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1033261	NM_198503.5(KCNT2):c.1295-18C>T	KCNT2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 57	GUncertain significance
Select item 2445750	NM_198503.5(KCNT2):c.1294+1G>T	KCNT2	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 1691136	NM_198503.5(KCNT2):c.1264C>T (p.Pro422Ser)	KCNT2 (P422S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1675399	NM_198503.5(KCNT2):c.1263G>A (p.Lys421=)	KCNT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2263808	NM_198503.5(KCNT2):c.1231C>G (p.Pro411Ala)	KCNT2 (P411A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2433046	NM_198503.5(KCNT2):c.1187A>G (p.Asp396Gly)	KCNT2 (D396G)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 57	GUncertain significance
Select item 3029415	NM_198503.5(KCNT2):c.1113G>C (p.Leu371Phe)	KCNT2 (L371F)	Single nucleotide variant (missense variant +1 more)	KCNT2-related condition	GUncertain significance
Select item 1683758	NM_198503.5(KCNT2):c.1109T>G (p.Leu370Arg)	KCNT2 (L370R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 57	GUncertain significance
Select item 1679226	NM_198503.5(KCNT2):c.1096A>G (p.Lys366Glu)	KCNT2 (K366E)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 57	GLikely pathogenic
Select item 1879105	NM_198503.5(KCNT2):c.1080T>C (p.Leu360=)	KCNT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1703062	NM_198503.5(KCNT2):c.1067G>A (p.Arg356Gln)	KCNT2 (R356Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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