KCNT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	LOC130002885, LOC130002886 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	PAEP, PIERCE1 +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	ABCA2, ABL1 +656 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC110121282, LOC111365185 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	BRD3, BRD3OS +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	ABCA2, ADAMTSL2 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	LOC130002964, LOC130002965 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	ABCA2, AGPAT2 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	LOC130003068, LOC130003069 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	ABCA2, AGPAT2 +371 more	Copy number loss	See cases	GPathogenic
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LCN15, LCN6 +265 more	Copy number loss	See cases	GPathogenic
Select item 145568	GRCh38/hg38 9q34.3(chr9:135164984-136437047)x3	CAMSAP1, CARD9 +86 more	Copy number gain	See cases	GUncertain significance
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 221387	GRCh38/hg38 9q34.3(chr9:135665886-135775364)x1	KCNT1, LCN9 +3 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 671737	NM_020822.2(KCNT1):c.-287A>G	KCNT1, SOHLH1	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1237645	NC_000009.12:g.135702028_135702029insCCTGGACCCTC	KCNT1, LOC130002976 +1 more	Insertion (genic upstream transcript variant)	not provided	GBenign
Select item 677573	NM_020822.2(KCNT1):c.-146A>T	KCNT1, LOC130002976	Single nucleotide variant	not provided	GBenign
Select item 668309	NM_020822.3(KCNT1):c.-40C>T	KCNT1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 383618	NM_020822.3(KCNT1):c.-38C>T	KCNT1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 387653	NM_020822.3(KCNT1):c.-27C>T	KCNT1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 662288	NC_000009.11:g.(?_138594085)_(138606586_?)dup	KCNT1	Duplication	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 508672	NM_020822.3(KCNT1):c.-16C>T	KCNT1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 388332	NM_020822.3(KCNT1):c.-1C>A	KCNT1	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 14 +3 more	GBenign
Select item 1408450	NM_020822.3(KCNT1):c.4C>G (p.Pro2Ala)	KCNT1 (P2A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 964279	NM_020822.3(KCNT1):c.4C>T (p.Pro2Ser)	KCNT1 (P2S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2944820	NM_020822.3(KCNT1):c.7C>T (p.Leu3Phe)	KCNT1 (L3F)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more	GUncertain significance
Select item 1594124	NM_020822.3(KCNT1):c.9C>T (p.Leu3=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 583110	NM_020822.3(KCNT1):c.10C>T (p.Pro4Ser)	KCNT1 (P4S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 1046530	NM_020822.3(KCNT1):c.11C>G (p.Pro4Arg)	KCNT1 (P4R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2932820	NM_020822.3(KCNT1):c.15C>G (p.Asp5Glu)	KCNT1 (D5E)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more	GUncertain significance
Select item 1534507	NM_020822.3(KCNT1):c.15C>T (p.Asp5=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 1132077	NM_020822.3(KCNT1):c.16G>A (p.Gly6Arg)	KCNT1 (G6R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 842108	NM_020822.3(KCNT1):c.16G>C (p.Gly6Arg)	KCNT1 (G6R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +2 more	GUncertain significance
Select item 1364755	NM_020822.3(KCNT1):c.20C>T (p.Ala7Val)	KCNT1 (A7V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 1320234	NM_020822.3(KCNT1):c.20del (p.Ala7fs)	KCNT1 (A7fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 14	GLikely benign
Select item 1444788	NM_020822.3(KCNT1):c.22C>G (p.Arg8Gly)	KCNT1 (R8G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 1927486	NM_020822.3(KCNT1):c.26C>A (p.Thr9Asn)	KCNT1 (T9N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 1408730	NM_020822.3(KCNT1):c.26C>T (p.Thr9Ile)	KCNT1 (T9I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 1941368	NM_020822.3(KCNT1):c.28C>G (p.Pro10Ala)	KCNT1 (P10A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 1045803	NM_020822.3(KCNT1):c.35dup (p.Val13fs)	KCNT1 (V13fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2188653	NM_020822.3(KCNT1):c.30G>C (p.Pro10=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 1641722	NM_020822.3(KCNT1):c.30G>T (p.Pro10=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 193440	NM_020822.3(KCNT1):c.30G>A (p.Pro10=)	KCNT1	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +3 more	GBenign
Select item 1020320	NM_020822.3(KCNT1):c.31G>A (p.Gly11Arg)	KCNT1 (G11R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2433043	NM_020822.3(KCNT1):c.32G>C (p.Gly11Ala)	KCNT1 (G11A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 578357	NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu)	KCNT1 (G11E)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 836634	NM_020822.3(KCNT1):c.34G>A (p.Gly12Ser)	KCNT1 (G12S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 1093719	NM_020822.3(KCNT1):c.36C>G (p.Gly12=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 540575	NM_020822.3(KCNT1):c.38T>C (p.Val13Ala)	KCNT1 (V13A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 1305092	NM_020822.3(KCNT1):c.41G>C (p.Cys14Ser)	KCNT1 (C14S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +2 more	GConflicting classifications of pathogenicity
Select item 2659714	NM_020822.3(KCNT1):c.43C>A (p.Arg15=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1515847	NM_020822.3(KCNT1):c.44G>A (p.Arg15Gln)	KCNT1 (R15Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2118048	NM_020822.3(KCNT1):c.46G>A (p.Glu16Lys)	KCNT1 (E16K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 840170	NM_020822.3(KCNT1):c.46G>C (p.Glu16Gln)	KCNT1 (E16Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 412307	NM_020822.3(KCNT1):c.47A>T (p.Glu16Val)	KCNT1 (E16V)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more	GLikely benign
Select item 412316	NM_020822.3(KCNT1):c.50C>T (p.Ala17Val)	KCNT1 (A17V)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more	GLikely benign
Select item 2938437	NM_020822.3(KCNT1):c.51G>A (p.Ala17=)	KCNT1	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more	GLikely benign
Select item 1060591	NM_020822.3(KCNT1):c.52C>T (p.Arg18Cys)	KCNT1 (R18C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 1123941	NM_020822.3(KCNT1):c.53G>A (p.Arg18His)	KCNT1 (R18H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 964549	NM_020822.3(KCNT1):c.53G>T (p.Arg18Leu)	KCNT1 (R18L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2932588	NM_020822.3(KCNT1):c.54C>A (p.Arg18=)	KCNT1	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more	GLikely benign
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 1636599	NM_020822.3(KCNT1):c.54C>T (p.Arg18=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 733208	NM_020822.3(KCNT1):c.54C>G (p.Arg18=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2929807	NM_020822.3(KCNT1):c.55G>C (p.Gly19Arg)	KCNT1 (G19R)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more	GUncertain significance
Select item 833651	NM_020822.3(KCNT1):c.55G>A (p.Gly19Ser)	KCNT1 (G19S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2138044	NM_020822.3(KCNT1):c.57C>G (p.Gly19=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 1389210	NM_020822.3(KCNT1):c.60_75del (p.Gly21fs)	KCNT1 (G21fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 583079	NM_020822.3(KCNT1):c.57C>T (p.Gly19=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2937951	NM_020822.3(KCNT1):c.62del (p.Gly21fs)	KCNT1 (G21fs)	Deletion (frameshift variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more	GUncertain significance
Select item 1382896	NM_020822.3(KCNT1):c.58G>C (p.Gly20Arg)	KCNT1 (G20R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
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 698057	NM_020822.3(KCNT1):c.60G>A (p.Gly20=)	KCNT1	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +2 more	GLikely benign
Select item 665175	NM_020822.3(KCNT1):c.62G>T (p.Gly21Val)	KCNT1 (G21V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 540584	NM_020822.3(KCNT1):c.62G>A (p.Gly21Asp)	KCNT1 (G21D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 640758	NM_020822.3(KCNT1):c.65A>G (p.Tyr22Cys)	KCNT1 (Y22C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2931446	NM_020822.3(KCNT1):c.67A>C (p.Thr23Pro)	KCNT1 (T23P)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more	GUncertain significance
Select item 2941756	NM_020822.3(KCNT1):c.70A>C (p.Asn24His)	KCNT1 (N24H)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more	GUncertain significance
Select item 1758715	NM_020822.3(KCNT1):c.73C>A (p.Arg25=)	KCNT1	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +2 more	GLikely 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 833856	NM_020822.3(KCNT1):c.74G>C (p.Arg25Pro)	KCNT1 (R25P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GBenign
Select item 1212415	NM_020822.3(KCNT1):c.77C>T (p.Thr26Ile)	KCNT1 (T26I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +2 more	GLikely benign
Select item 2504336	NM_020822.3(KCNT1):c.79T>G (p.Phe27Val)	KCNT1 (F27V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2934405	NM_020822.3(KCNT1):c.81C>A (p.Phe27Leu)	KCNT1 (F27L)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more	GUncertain significance
Select item 1083161	NM_020822.3(KCNT1):c.81C>T (p.Phe27=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2951684	NM_020822.3(KCNT1):c.82_84del (p.Glu28del)	KCNT1 (E28del)	Deletion (inframe_deletion)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more	GUncertain significance
Select item 540574	NM_020822.3(KCNT1):c.82_85delinsC (p.Glu28_Phe29delinsLeu)	KCNT1	Indel (inframe_indel)	not provided	GUncertain significance
Select item 540597	NM_020822.3(KCNT1):c.85T>C (p.Phe29Leu)	KCNT1 (F29L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance

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