"PreventionGenetics, part of Exact Sciences"[submitter] AND "KCNT1"[ge - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193440	NM_020822.3(KCNT1):c.30G>A (p.Pro10=)	KCNT1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 129366	NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala)	KCNT1 (G20A)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 937909	NM_020822.3(KCNT1):c.73C>T (p.Arg25Trp)	KCNT1 (R25W)	Single nucleotide variant (missense variant)	KCNT1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3030268	NM_020822.3(KCNT1):c.90_98dup (p.Gly32_Gln33insHisAspGly)	KCNT1	Duplication (inframe insertion)	KCNT1-related disorder	GUncertain significance
Select item 193439	NM_020822.3(KCNT1):c.99A>G (p.Gln33=)	KCNT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1155263	NM_020822.3(KCNT1):c.222G>T (p.Leu74=)	KCNT1	Single nucleotide variant (synonymous variant +1 more)	KCNT1-related disorder +2 more	GLikely benign
Select item 261362	NM_020822.3(KCNT1):c.254+18_254+19dup	KCNT1	Duplication (intron variant)	Developmental and epileptic encephalopathy, 14 +3 more	GBenign
Select item 383626	NM_020822.3(KCNT1):c.334+10G>A	KCNT1	Single nucleotide variant (intron variant)	KCNT1-related disorder +4 more	GBenign/Likely benign
Select item 241304	NM_020822.3(KCNT1):c.522G>A (p.Met174Ile)	KCNT1 (M174I +1 more)	Single nucleotide variant (missense variant)	KCNT1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 388907	NM_020822.3(KCNT1):c.533C>T (p.Ala178Val)	KCNT1 (A178V +1 more)	Single nucleotide variant (missense variant)	KCNT1-related disorder +3 more	GLikely benign
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 650410	NM_020822.3(KCNT1):c.852G>A (p.Thr284=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +2 more	GLikely benign
Select item 193923	NM_020822.3(KCNT1):c.885G>A (p.Ala295=)	KCNT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 193921	NM_020822.3(KCNT1):c.942C>T (p.Thr314=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1015552	NM_020822.3(KCNT1):c.952G>A (p.Gly318Ser)	KCNT1 (G273S +1 more)	Single nucleotide variant (missense variant)	KCNT1-related disorder +2 more	GUncertain significance
Select item 129368	NM_020822.3(KCNT1):c.978A>G (p.Pro326=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +4 more	GBenign
Select item 241306	NM_020822.3(KCNT1):c.985C>T (p.Leu329=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +4 more	GBenign/Likely benign
Select item 261360	NM_020822.3(KCNT1):c.1036-15G>A	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +2 more	GBenign
Select item 241299	NM_020822.3(KCNT1):c.1056C>G (p.Leu352=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +3 more	GBenign
Select item 194112	NM_020822.3(KCNT1):c.1104G>A (p.Ala368=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +5 more	GBenign/Likely benign
Select item 1421988	NM_020822.3(KCNT1):c.1132_1133del (p.Val378fs)	KCNT1 (V333fs +1 more)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 14 +2 more	GUncertain significance
Select item 211239	NM_020822.3(KCNT1):c.1134C>T (p.Val378=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +5 more	GBenign/Likely benign
Select item 506958	NM_020822.3(KCNT1):c.1152C>T (p.Asp384=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +3 more	GLikely benign
Select item 699364	NM_020822.3(KCNT1):c.1188C>T (p.His396=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +2 more	GBenign/Likely benign
Select item 39599	NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)	KCNT1 (R398Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 261361	NM_020822.3(KCNT1):c.1200+12T>G	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +2 more	GBenign
Select item 798167	NM_020822.3(KCNT1):c.1327A>T (p.Met443Leu)	KCNT1 (M443L +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely benign
Select item 540586	NM_020822.3(KCNT1):c.1380C>T (p.Asn460=)	KCNT1	Single nucleotide variant (synonymous variant)	KCNT1-related disorder +2 more	GLikely benign
Select item 194424	NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met)	KCNT1 (T465M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 382867	NM_020822.3(KCNT1):c.1395G>A (p.Thr465=)	KCNT1	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +3 more	GLikely benign
Select item 39595	NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)	KCNT1 (R474H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 383992	NM_020822.3(KCNT1):c.1614C>T (p.Arg538=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 382936	NM_020822.3(KCNT1):c.1626A>G (p.Gly542=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +4 more	GBenign/Likely benign
Select item 385891	NM_020822.3(KCNT1):c.1638G>A (p.Pro546=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +5 more	GLikely benign
Select item 3031730	NM_020822.3(KCNT1):c.1688A>G (p.His563Arg)	KCNT1 (H518R +1 more)	Single nucleotide variant (missense variant)	KCNT1-related disorder	GUncertain significance
Select item 194781	NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys)	KCNT1 (E576K +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 129353	NM_020822.3(KCNT1):c.1749G>A (p.Ala583=)	KCNT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign
Select item 386655	NM_020822.3(KCNT1):c.1769+8C>A	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +3 more	GLikely benign
Select item 194782	NM_020822.3(KCNT1):c.1769+16A>G	KCNT1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 129354	NM_020822.3(KCNT1):c.1879A>G (p.Ile627Val)	KCNT1 (I627V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 669367	NM_020822.3(KCNT1):c.1962C>T (p.His654=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +4 more	GLikely benign
Select item 473368	NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del)	KCNT1	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 14 +4 more	GConflicting classifications of pathogenicity
Select item 129356	NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met)	KCNT1 (T737M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign
Select item 473370	NM_020822.3(KCNT1):c.2220C>G (p.Asp740Glu)	KCNT1 (D740E +1 more)	Single nucleotide variant (missense variant)	KCNT1-related disorder +4 more	GLikely benign
Select item 386181	NM_020822.3(KCNT1):c.2236G>A (p.Val746Met)	KCNT1 (V746M +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +4 more	GLikely benign
Select item 195619	NM_020822.3(KCNT1):c.2376C>T (p.Asp792=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +4 more	GBenign/Likely benign
Select item 2630428	NM_020822.3(KCNT1):c.2387A>G (p.Tyr796Cys)	KCNT1 (Y751C +1 more)	Single nucleotide variant (missense variant)	KCNT1-related disorder	GUncertain significance
Select item 129357	NM_020822.3(KCNT1):c.2427G>A (p.Thr809=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +4 more	GBenign
Select item 129358	NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly)	KCNT1 (E848G +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 417213	NM_020822.3(KCNT1):c.2594+7C>T	KCNT1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 389773	NM_020822.3(KCNT1):c.2674G>A (p.Glu892Lys)	KCNT1 (E892K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +3 more	GConflicting classifications of pathogenicity
Select item 2630126	NM_020822.3(KCNT1):c.2704A>G (p.Ile902Val)	KCNT1 (I857V +1 more)	Single nucleotide variant (missense variant)	KCNT1-related disorder	GUncertain significance
Select item 513904	NM_020822.3(KCNT1):c.2712C>T (p.Asn904=)	KCNT1	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +4 more	GLikely benign
Select item 224109	NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)	KCNT1 (R910Q +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +5 more	GConflicting classifications of pathogenicity
Select item 383436	NM_020822.3(KCNT1):c.2729+9A>G	KCNT1	Single nucleotide variant (intron variant)	KCNT1-related disorder +3 more	GBenign
Select item 129361	NM_020822.3(KCNT1):c.2943+6C>T	KCNT1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 3038164	NM_020822.3(KCNT1):c.2944-52CTCC[12]	KCNT1	Microsatellite (intron variant)	KCNT1-related disorder	GBenign
Select item 286875	NM_020822.3(KCNT1):c.2944-52CTCC[7]	KCNT1	Microsatellite (intron variant)	KCNT1-related disorder +4 more	GBenign/Likely benign
Select item 195984	NM_020822.3(KCNT1):c.2944-52CTCC[10]	KCNT1	Microsatellite (intron variant)	not specified +1 more	GBenign
Select item 195983	NM_020822.3(KCNT1):c.2944-52CTCC[9]	KCNT1	Microsatellite (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 195981	NM_020822.3(KCNT1):c.2944-52CTCC[8]	KCNT1	Microsatellite (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 195980	NM_020822.3(KCNT1):c.2944-52CTCC[6]	KCNT1	Microsatellite (intron variant)	not provided +4 more	GBenign
Select item 540596	NM_020822.3(KCNT1):c.3015G>T (p.Gly1005=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +2 more	GLikely benign
Select item 445748	NM_020822.3(KCNT1):c.3058C>T (p.Arg1020Cys)	KCNT1 (R1020C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +4 more	GConflicting classifications of pathogenicity
Select item 421819	NM_020822.3(KCNT1):c.3178-26GCCCT[6]	KCNT1	Microsatellite (intron variant)	KCNT1-related disorder +3 more	GLikely benign
Select item 196184	NM_020822.3(KCNT1):c.3178-26GCCCT[3]	KCNT1	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 14 +3 more	GBenign
Select item 385356	NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val)	KCNT1 (G1080V +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 129362	NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser)	KCNT1 (P1099S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +4 more	GBenign/Likely benign
Select item 129363	NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +4 more	GBenign/Likely benign
Select item 279821	NM_020822.3(KCNT1):c.3317G>A (p.Arg1106Gln)	KCNT1 (R1106Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +4 more	GBenign/Likely benign
Select item 653930	NM_020822.3(KCNT1):c.3326G>A (p.Ser1109Asn)	KCNT1 (S1064N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +2 more	GConflicting classifications of pathogenicity
Select item 211243	NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp)	KCNT1 (R1114W +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 235417	NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val)	KCNT1 (A1128V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +4 more	GBenign/Likely benign
Select item 473389	NM_020822.3(KCNT1):c.3387C>T (p.Ala1129=)	KCNT1	Single nucleotide variant (synonymous variant)	KCNT1-related disorder +3 more	GBenign/Likely benign
Select item 129364	NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr)	KCNT1 (A1130T +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 942238	NM_020822.3(KCNT1):c.3431C>G (p.Ser1144Cys)	KCNT1 (S1099C +1 more)	Single nucleotide variant (missense variant)	KCNT1-related disorder +2 more	GUncertain significance
Select item 473390	NM_020822.3(KCNT1):c.3437G>A (p.Arg1146His)	KCNT1 (R1146H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +4 more	GBenign/Likely benign
Select item 3051313	NM_020822.3(KCNT1):c.3502+8C>T	KCNT1	Single nucleotide variant (intron variant)	KCNT1-related disorder	GLikely benign
Select item 261363	NM_020822.3(KCNT1):c.3502+16G>A	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +2 more	GBenign
Select item 211244	NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln)	KCNT1 (R1214Q +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 473395	NM_020822.3(KCNT1):c.3664C>T (p.Leu1222=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +2 more	GLikely benign
Select item 421231	NM_020822.3(KCNT1):c.3682G>A (p.Glu1228Lys)	KCNT1 (E1228K +1 more)	Single nucleotide variant (missense variant)	KCNT1-related disorder +4 more	GBenign/Likely benign
Select item 378038	NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala)	KCNT1 (T1229A +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +4 more	GBenign/Likely benign
Select item 289215	NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=)	KCNT1	Single nucleotide variant (synonymous variant)	KCNT1-related disorder +5 more	GBenign/Likely benign
Select item 378039	NM_020822.3(KCNT1):c.3694G>A (p.Glu1232Lys)	KCNT1 (E1232K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign

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Items: 85