"GeneDx"[submitter] AND "KCNT1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
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 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)	not provided +3 more	GBenign
Select item 193440	NM_020822.3(KCNT1):c.30G>A (p.Pro10=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +4 more	GBenign
Select item 578357	NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu)	KCNT1 (G11E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 129366	NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala)	KCNT1 (G20A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
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 193439	NM_020822.3(KCNT1):c.99A>G (p.Gln33=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 447645	NM_020822.3(KCNT1):c.104C>T (p.Ala35Val)	KCNT1 (A35V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1211730	NM_020822.3(KCNT1):c.110+38C>T	KCNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242621	NM_020822.3(KCNT1):c.110+57dup	KCNT1	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1191227	NM_020822.3(KCNT1):c.110+77C>T	KCNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677658	NM_020822.3(KCNT1):c.110+154G>A	KCNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181049	NM_020822.3(KCNT1):c.110+222A>G	KCNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266360	NM_020822.3(KCNT1):c.111-263T>G	KCNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215153	NM_020822.3(KCNT1):c.111-96G>C	KCNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 129351	NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu)	KCNT1 (P39L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +4 more	GBenign
Select item 682464	NM_020822.3(KCNT1):c.123G>C (p.Ala41=)	KCNT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 473358	NM_020822.3(KCNT1):c.130G>T (p.Gly44Cys)	KCNT1 (G44C)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +2 more	GLikely benign
Select item 386452	NM_020822.3(KCNT1):c.146C>G (p.Thr49Ser)	KCNT1 (T49S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 14 +4 more	GLikely benign
Select item 384648	NM_020822.3(KCNT1):c.150C>A (p.Ala50=)	KCNT1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 14 +2 more	GLikely benign
Select item 517706	NM_020822.3(KCNT1):c.151G>C (p.Gly51Arg)	KCNT1 (G51R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 1311119	NM_020822.3(KCNT1):c.162G>A (p.Met54Ile)	KCNT1 (M54I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 723392	NM_020822.3(KCNT1):c.173A>G (p.Asp58Gly)	KCNT1 (D58G)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 14 +2 more	GConflicting classifications of pathogenicity
Select item 2085412	NM_020822.3(KCNT1):c.196C>G (p.Pro66Ala)	KCNT1 (P66A)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 14 +2 more	GUncertain significance
Select item 449770	NM_020822.3(KCNT1):c.218T>C (p.Leu73Pro)	KCNT1 (L73P)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 14 +3 more	GUncertain significance
Select item 473372	NM_020822.3(KCNT1):c.231C>T (p.Asp77=)	KCNT1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 386190	NM_020822.3(KCNT1):c.237C>T (p.Ser79=)	KCNT1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 14 +2 more	GLikely benign
Select item 261362	NM_020822.3(KCNT1):c.254+18_254+19dup	KCNT1	Duplication (intron variant)	not specified +3 more	GBenign
Select item 286134	NM_020822.3(KCNT1):c.254+20T>C	KCNT1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1191469	NM_020822.3(KCNT1):c.254+41C>T	KCNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195660	NM_020822.3(KCNT1):c.254+65G>A	KCNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668722	NM_020822.3(KCNT1):c.255-295C>T	KCNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683562	NM_020822.3(KCNT1):c.255-294G>A	KCNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202460	NM_020822.3(KCNT1):c.255-283C>T	KCNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193588	NM_020822.3(KCNT1):c.255-240G>A	KCNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682091	NM_020822.3(KCNT1):c.255-164A>G	KCNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 517698	NM_020822.3(KCNT1):c.255-16CT[2]	KCNT1	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 14 +2 more	GLikely benign
Select item 388670	NM_020822.3(KCNT1):c.261G>A (p.Gln87=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +2 more	GLikely benign
Select item 512972	NM_020822.3(KCNT1):c.279C>T (p.Asn93=)	KCNT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 2581909	NM_020822.3(KCNT1):c.280G>A (p.Glu94Lys)	KCNT1 (E46K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 288994	NM_020822.3(KCNT1):c.285C>T (p.Asn95=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 196502	NM_020822.3(KCNT1):c.299G>A (p.Arg100Gln)	KCNT1 (R100Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 392958	NM_020822.3(KCNT1):c.309G>T (p.Leu103=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +3 more	GLikely benign
Select item 2663055	NM_020822.3(KCNT1):c.323A>C (p.Asn108Thr)	KCNT1 (N108T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196503	NM_020822.3(KCNT1):c.333G>A (p.Ser111=)	KCNT1	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +4 more	GBenign/Likely benign
Select item 386875	NM_020822.3(KCNT1):c.334+7G>A	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +2 more	GLikely benign
Select item 383626	NM_020822.3(KCNT1):c.334+10G>A	KCNT1	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +3 more	GBenign/Likely benign
Select item 1194457	NM_020822.3(KCNT1):c.334+137G>A	KCNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232376	NM_020822.3(KCNT1):c.334+153G>A	KCNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199936	NM_020822.3(KCNT1):c.334+195C>T	KCNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244457	NM_020822.3(KCNT1):c.334+231G>C	KCNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264938	NM_020822.3(KCNT1):c.334+241T>C	KCNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192857	NM_020822.3(KCNT1):c.335-183A>G	KCNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 391319	NM_020822.3(KCNT1):c.335-16G>A	KCNT1	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +2 more	GBenign/Likely benign
Select item 948351	NM_020822.3(KCNT1):c.346C>T (p.Arg116Trp)	KCNT1 (R116W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1305328	NM_020822.3(KCNT1):c.357C>A (p.Asn119Lys)	KCNT1 (N71K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +2 more	GUncertain significance
Select item 1706376	NM_020822.3(KCNT1):c.376A>G (p.Thr126Ala)	KCNT1 (T126A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804968	NM_020822.3(KCNT1):c.385C>G (p.Leu129Val)	KCNT1 (L129V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +2 more	GUncertain significance
Select item 389433	NM_020822.3(KCNT1):c.399C>A (p.Arg133=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +2 more	GLikely benign
Select item 944093	NM_020822.3(KCNT1):c.400G>T (p.Val134Phe)	KCNT1 (V134F +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +2 more	GUncertain significance
Select item 197328	NM_020822.3(KCNT1):c.408C>T (p.Leu136=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +3 more	GConflicting classifications of pathogenicity
Select item 386987	NM_020822.3(KCNT1):c.417G>A (p.Pro139=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +2 more	GLikely benign
Select item 382908	NM_020822.3(KCNT1):c.434+10G>A	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +2 more	GLikely benign
Select item 386999	NM_020822.3(KCNT1):c.434+15C>T	KCNT1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 511429	NM_020822.3(KCNT1):c.434+19C>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +2 more	GLikely benign
Select item 682075	NM_020822.3(KCNT1):c.434+25C>A	KCNT1	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +3 more	GBenign
Select item 1201095	NM_020822.3(KCNT1):c.434+250C>T	KCNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669582	NM_020822.3(KCNT1):c.434+269G>A	KCNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683563	NM_020822.3(KCNT1):c.435-257G>C	KCNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682078	NM_020822.3(KCNT1):c.435-67C>T	KCNT1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 389783	NM_020822.3(KCNT1):c.435-18C>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +2 more	GLikely benign
Select item 516948	NM_020822.3(KCNT1):c.435-17G>A	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +2 more	GBenign
Select item 1200434	NM_020822.3(KCNT1):c.435-12G>C	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +2 more	GLikely benign
Select item 1327339	NM_020822.3(KCNT1):c.453G>C (p.Gln151His)	KCNT1 (Q103H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384843	NM_020822.3(KCNT1):c.474G>A (p.Ser158=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 388117	NM_020822.3(KCNT1):c.477C>G (p.Ser159=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +2 more	GLikely benign
Select item 388988	NM_020822.3(KCNT1):c.480C>T (p.Ser160=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1257611	NM_020822.3(KCNT1):c.492-117A>G	KCNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260770	NM_020822.3(KCNT1):c.492-94A>G	KCNT1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 682077	NM_020822.3(KCNT1):c.492-86C>T	KCNT1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 241304	NM_020822.3(KCNT1):c.522G>A (p.Met174Ile)	KCNT1 (M174I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +4 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)	not specified +2 more	GLikely benign
Select item 682288	NM_020822.3(KCNT1):c.534G>C (p.Ala178=)	KCNT1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1221458	NM_020822.3(KCNT1):c.540+39T>G	KCNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682098	NM_020822.3(KCNT1):c.541-225C>T	KCNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 390976	NM_020822.3(KCNT1):c.541-16C>G	KCNT1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 374563	NM_020822.3(KCNT1):c.567G>A (p.Leu189=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 452257	NM_020822.3(KCNT1):c.572C>G (p.Thr191Arg)	KCNT1 (T191R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314286	NM_020822.3(KCNT1):c.592A>G (p.Ser198Gly)	KCNT1 (S150G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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