"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "KCNT1"[gen - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2659714	NM_020822.3(KCNT1):c.43C>A (p.Arg15=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 698057	NM_020822.3(KCNT1):c.60G>A (p.Gly20=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +2 more	GLikely benign
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 2571346	NM_020822.3(KCNT1):c.110+2523C>T	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)	not provided +4 more	GBenign/Likely 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 517706	NM_020822.3(KCNT1):c.151G>C (p.Gly51Arg)	KCNT1 (G51R)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 1711697	NM_020822.3(KCNT1):c.255-13418C>A	KCNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 696897	NM_020822.3(KCNT1):c.273C>T (p.Tyr91=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +2 more	GLikely benign
Select item 999362	NM_020822.3(KCNT1):c.298C>T (p.Arg100Trp)	KCNT1 (R100W +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +2 more	GConflicting classifications of pathogenicity
Select item 196503	NM_020822.3(KCNT1):c.333G>A (p.Ser111=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 567928	NM_020822.3(KCNT1):c.385C>A (p.Leu129Ile)	KCNT1 (L129I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 648163	NM_020822.3(KCNT1):c.398G>A (p.Arg133His)	KCNT1 (R133H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 197328	NM_020822.3(KCNT1):c.408C>T (p.Leu136=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1335747	NM_020822.3(KCNT1):c.434+1G>T	KCNT1	Single nucleotide variant (splice donor 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 810467	NM_020822.3(KCNT1):c.510G>A (p.Val170=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 241304	NM_020822.3(KCNT1):c.522G>A (p.Met174Ile)	KCNT1 (M174I +1 more)	Single nucleotide variant (missense variant)	KCNT1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 374563	NM_020822.3(KCNT1):c.567G>A (p.Leu189=)	KCNT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 588503	NM_020822.3(KCNT1):c.625C>T (p.Arg209Cys)	KCNT1 (R209C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +3 more	GLikely benign
Select item 2659715	NM_020822.3(KCNT1):c.643G>C (p.Glu215Gln)	KCNT1 (E167Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 547059	NM_020822.3(KCNT1):c.673A>G (p.Thr225Ala)	KCNT1 (T225A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1141506	NM_020822.3(KCNT1):c.687G>A (p.Pro229=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 384603	NM_020822.3(KCNT1):c.732G>A (p.Leu244=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1310550	NM_020822.3(KCNT1):c.784C>T (p.Arg262Trp)	KCNT1 (R214W +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +2 more	GConflicting classifications of pathogenicity
Select item 432096	NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln)	KCNT1 (R262Q +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +3 more	GConflicting classifications of pathogenicity
Select item 871329	NM_020822.3(KCNT1):c.811G>T (p.Val271Phe)	KCNT1 (V271F +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2583074	NM_020822.3(KCNT1):c.820C>G (p.Leu274Val)	KCNT1 (L226V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1685902	NM_020822.3(KCNT1):c.841C>T (p.Leu281Phe)	KCNT1 (L233F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 590016	NM_020822.3(KCNT1):c.861C>T (p.Cys287=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 126421	NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser)	KCNT1 (G288S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +2 more	GPathogenic
Select item 193923	NM_020822.3(KCNT1):c.885G>A (p.Ala295=)	KCNT1	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 193922	NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys)	KCNT1 (E297K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 384886	NM_020822.3(KCNT1):c.957C>T (p.Asp319=)	KCNT1	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +2 more	GLikely benign
Select item 391114	NM_020822.3(KCNT1):c.963G>A (p.Thr321=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 916500	NM_020822.3(KCNT1):c.977C>T (p.Pro326Leu)	KCNT1 (P281L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 511651	NM_020822.3(KCNT1):c.981G>A (p.Ser327=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 374771	NM_020822.3(KCNT1):c.1036-7C>T	KCNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 389450	NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp)	KCNT1 (R356W +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +3 more	GPathogenic/Likely pathogenic
Select item 502633	NM_020822.3(KCNT1):c.1110G>A (p.Thr370=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +2 more	GConflicting classifications of pathogenicity
Select item 211239	NM_020822.3(KCNT1):c.1134C>T (p.Val378=)	KCNT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
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 384409	NM_020822.3(KCNT1):c.1173C>T (p.Asn391=)	KCNT1	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +3 more	GLikely benign
Select item 417220	NM_020822.3(KCNT1):c.1182C>T (p.Tyr394=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +3 more	GBenign/Likely benign
Select item 2579079	NM_020822.3(KCNT1):c.1198C>G (p.Gln400Glu)	KCNT1 (Q355E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 696741	NM_020822.3(KCNT1):c.1201-6C>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +2 more	GBenign/Likely benign
Select item 388105	NM_020822.3(KCNT1):c.1258C>T (p.Leu420=)	KCNT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 39593	NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)	KCNT1 (R428Q +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +3 more	GPathogenic
Select item 1711698	NM_020822.3(KCNT1):c.1311C>T (p.Leu437=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741609	NM_020822.3(KCNT1):c.1326C>A (p.Leu442=)	KCNT1	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +2 more	GLikely benign
Select item 798167	NM_020822.3(KCNT1):c.1327A>T (p.Met443Leu)	KCNT1 (M443L +1 more)	Single nucleotide variant (missense variant)	KCNT1-related condition +4 more	GLikely benign
Select item 385081	NM_020822.3(KCNT1):c.1337+7G>A	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +3 more	GLikely benign
Select item 389495	NM_020822.3(KCNT1):c.1338-3C>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +4 more	GConflicting classifications of pathogenicity
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 624378	NM_020822.3(KCNT1):c.1401+3G>T	KCNT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 624379	NM_020822.3(KCNT1):c.1402-6C>T	KCNT1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 39595	NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)	KCNT1 (R474H +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +5 more	GConflicting classifications of pathogenicity
Select item 761417	NM_020822.3(KCNT1):c.1464C>T (p.Tyr488=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 698102	NM_020822.3(KCNT1):c.1497C>T (p.His499=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +2 more	GLikely benign
Select item 653977	NM_020822.3(KCNT1):c.1498G>A (p.Val500Ile)	KCNT1 (V455I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +2 more	GUncertain significance
Select item 211240	NM_020822.3(KCNT1):c.1510+4C>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +3 more	GUncertain significance
Select item 547060	NM_020822.3(KCNT1):c.1521G>A (p.Val507=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +2 more	GConflicting classifications of pathogenicity
Select item 1012636	NM_020822.3(KCNT1):c.1566C>T (p.Ile522=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 422477	NM_020822.3(KCNT1):c.1619+5GTGCCCC[3]	KCNT1	Microsatellite (intron variant)	not provided +2 more	GLikely benign
Select item 378037	NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg)	KCNT1 (Q543R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 385891	NM_020822.3(KCNT1):c.1638G>A (p.Pro546=)	KCNT1	Single nucleotide variant (synonymous variant)	KCNT1-related condition +5 more	GLikely benign
Select item 547061	NM_020822.3(KCNT1):c.1652G>T (p.Arg551Leu)	KCNT1 (R551L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374722	NM_020822.3(KCNT1):c.1664G>A (p.Arg555His)	KCNT1 (R555H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +2 more	GUncertain significance
Select item 500199	NM_020822.3(KCNT1):c.1717C>T (p.Arg573Cys)	KCNT1 (R573C +1 more)	Single nucleotide variant (missense variant)	not provided +2 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 386463	NM_020822.3(KCNT1):c.1725C>T (p.Tyr575=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +4 more	GLikely benign
Select item 1176914	NM_020822.3(KCNT1):c.1729G>A (p.Gly577Ser)	KCNT1 (G532S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +2 more	GUncertain significance
Select item 699638	NM_020822.3(KCNT1):c.1746C>T (p.Tyr582=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 473362	NM_020822.3(KCNT1):c.1769+8C>T	KCNT1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 374745	NM_020822.3(KCNT1):c.1776C>T (p.Gly592=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 374766	NM_020822.3(KCNT1):c.1777G>A (p.Val593Met)	KCNT1 (V593M +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +4 more	GConflicting classifications of pathogenicity
Select item 390539	NM_020822.3(KCNT1):c.1788C>T (p.Ile596=)	KCNT1	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +2 more	GLikely benign
Select item 871330	NM_020822.3(KCNT1):c.1854C>T (p.Ala618=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +2 more	GLikely benign
Select item 2659716	NM_020822.3(KCNT1):c.1858G>A (p.Asp620Asn)	KCNT1 (D575N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659717	NM_020822.3(KCNT1):c.1877A>T (p.Asn626Ile)	KCNT1 (N581I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 194882	NM_020822.3(KCNT1):c.1899G>A (p.Ser633=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +2 more	GConflicting classifications of pathogenicity
Select item 386260	NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln)	KCNT1 (R643Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2137284	NM_020822.3(KCNT1):c.1935G>A (p.Lys645=)	KCNT1	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +2 more	GLikely benign
Select item 932412	NM_020822.3(KCNT1):c.1955G>T (p.Gly652Val)	KCNT1 (G607V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +2 more	GUncertain significance
Select item 669367	NM_020822.3(KCNT1):c.1962C>T (p.His654=)	KCNT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 444789	NM_020822.3(KCNT1):c.1967G>A (p.Gly656Asp)	KCNT1 (G656D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +2 more	GUncertain significance
Select item 810468	NM_020822.3(KCNT1):c.1976G>A (p.Arg659His)	KCNT1 (R614H +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +2 more	GUncertain significance
Select item 392850	NM_020822.3(KCNT1):c.1995C>T (p.Ile665=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +2 more	GConflicting classifications of pathogenicity
Select item 417209	NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg)	KCNT1 (Q677R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +3 more	GConflicting classifications of pathogenicity
Select item 129355	NM_020822.3(KCNT1):c.2034C>T (p.Gly678=)	KCNT1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 194982	NM_020822.3(KCNT1):c.2052G>A (p.Thr684=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 810469	NM_020822.3(KCNT1):c.2059G>A (p.Gly687Ser)	KCNT1 (G642S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +2 more	GConflicting classifications of pathogenicity
Select item 473368	NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del)	KCNT1	Deletion (inframe_deletion)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 566119	NM_020822.3(KCNT1):c.2096C>T (p.Thr699Met)	KCNT1 (T699M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 384650	NM_020822.3(KCNT1):c.2136C>T (p.Pro712=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 810470	NM_020822.3(KCNT1):c.2151C>T (p.Ala717=)	KCNT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 546366	NM_020822.3(KCNT1):c.2174G>C (p.Cys725Ser)	KCNT1 (C725S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +2 more	GConflicting classifications of pathogenicity

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