ClinVar for MedGen (Select 767220) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3764061	NM_020822.3(KCNT1):c.1765A>G (p.Lys589Glu)	KCNT1 (K544E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3764031	NM_020822.3(KCNT1):c.3438C>T (p.Arg1146=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3763963	NM_020822.3(KCNT1):c.1190C>T (p.Pro397Leu)	KCNT1 (P352L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3763947	NM_020822.3(KCNT1):c.630G>A (p.Val210=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3763850	NM_020822.3(KCNT1):c.1218C>T (p.Ile406=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3763845	NM_020822.3(KCNT1):c.2730-15G>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3763828	NM_020822.3(KCNT1):c.1287C>T (p.Val429=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3763808	NM_020822.3(KCNT1):c.3170G>A (p.Arg1057Lys)	KCNT1 (R1012K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3763717	NM_020822.3(KCNT1):c.3177+18_3177+19delinsTT	KCNT1	Indel (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3763710	NM_020822.3(KCNT1):c.3503-8C>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3763705	NM_020822.3(KCNT1):c.3502+12C>A	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3763614	NM_020822.3(KCNT1):c.3108C>T (p.Ile1036=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3763535	NM_020822.3(KCNT1):c.2754C>T (p.Thr918=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3763454	NM_020822.3(KCNT1):c.1438G>A (p.Asp480Asn)	KCNT1 (D435N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely pathogenic
Select item 3763291	NM_020822.3(KCNT1):c.3626G>T (p.Ser1209Ile)	KCNT1 (S1185I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3763183	NM_020822.3(KCNT1):c.780C>T (p.Ile260=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3763001	NM_020822.3(KCNT1):c.3062C>T (p.Thr1021Met)	KCNT1 (T1021M +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3762980	NM_020822.3(KCNT1):c.2009-16C>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3762949	NM_020822.3(KCNT1):c.234G>A (p.Pro78=)	KCNT1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3762812	NM_020822.3(KCNT1):c.1338-7A>G	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3762664	NM_020822.3(KCNT1):c.799A>G (p.Met267Val)	KCNT1 (M219V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3762637	NM_020822.3(KCNT1):c.3156+17G>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3762625	NM_020822.3(KCNT1):c.356A>G (p.Asn119Ser)	KCNT1 (N119S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3762462	NM_020822.3(KCNT1):c.2009-19G>A	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3762265	NM_020822.3(KCNT1):c.2841+16C>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3762241	NM_020822.3(KCNT1):c.1620-19G>A	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3762143	NM_020822.3(KCNT1):c.2802C>T (p.Ala934=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3762058	NM_020822.3(KCNT1):c.3248C>T (p.Ala1083Val)	KCNT1 (A1038V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3761990	NM_020822.3(KCNT1):c.2008+17G>C	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3761947	NM_020822.3(KCNT1):c.1510+18G>A	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3761892	NM_020822.3(KCNT1):c.474G>C (p.Ser158=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3761868	NM_020822.3(KCNT1):c.1769+16A>C	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3761763	NM_020822.3(KCNT1):c.1629G>T (p.Gln543His)	KCNT1 (Q498H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3761477	NM_020822.3(KCNT1):c.2944-7_2944-6insCCCTGCCTCCCT	KCNT1	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3761315	NM_020822.3(KCNT1):c.2928C>T (p.Asp976=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3761140	NM_020822.3(KCNT1):c.1200+6G>C	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3761111	NM_020822.3(KCNT1):c.450G>A (p.Lys150=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3761007	NM_020822.3(KCNT1):c.1911C>T (p.Phe637=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3760896	NM_020822.3(KCNT1):c.3503-20C>A	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3760694	NM_020822.3(KCNT1):c.3626G>A (p.Ser1209Asn)	KCNT1 (S1185N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3760620	NM_020822.3(KCNT1):c.1980G>A (p.Leu660=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3760603	NM_020822.3(KCNT1):c.255-18C>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3760565	NM_020822.3(KCNT1):c.1875C>T (p.Ile625=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3760560	NM_020822.3(KCNT1):c.110+11C>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3760543	NM_020822.3(KCNT1):c.2499C>T (p.Pro833=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3760500	NM_020822.3(KCNT1):c.3095C>G (p.Ser1032Cys)	KCNT1 (S1032C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3760489	NM_020822.3(KCNT1):c.1594C>T (p.Leu532=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3760403	NM_020822.3(KCNT1):c.434+16G>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3760158	NM_020822.3(KCNT1):c.2118_2121dup (p.Pro708fs)	KCNT1 (P663fs +1 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3760131	NM_020822.3(KCNT1):c.3459G>A (p.Val1153=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3759994	NM_020822.3(KCNT1):c.3156+7G>C	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3759986	NM_020822.3(KCNT1):c.2426_2427delinsGA (p.Thr809Arg)	KCNT1 (T764R +1 more)	Indel (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3759842	NM_020822.3(KCNT1):c.3027+25_3027+29del	KCNT1	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3759714	NM_020822.3(KCNT1):c.2884C>T (p.Leu962=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3759567	NM_020822.3(KCNT1):c.540+1G>C	KCNT1	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3759529	NM_020822.3(KCNT1):c.894C>T (p.Asn298=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3758975	NM_020822.3(KCNT1):c.2410A>G (p.Ile804Val)	KCNT1 (I759V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3758670	NM_020822.3(KCNT1):c.3553C>T (p.Pro1185Ser)	KCNT1 (P1161S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3758599	NM_020822.3(KCNT1):c.3156+44_3156+45insCGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCC	KCNT1	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3758587	NM_020822.3(KCNT1):c.1035+7C>A	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3758582	NM_020822.3(KCNT1):c.2466G>T (p.Arg822=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3758571	NM_020822.3(KCNT1):c.2729G>C (p.Arg910Pro)	KCNT1 (R865P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3758513	NM_020822.3(KCNT1):c.3604G>A (p.Asp1202Asn)	KCNT1 (D1178N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3758339	NM_020822.3(KCNT1):c.2812T>C (p.Tyr938His)	KCNT1 (Y893H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3758328	NM_020822.3(KCNT1):c.158A>C (p.Lys53Thr)	KCNT1 (K53T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3758234	NM_020822.3(KCNT1):c.1619+12G>A	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3758204	NM_020822.3(KCNT1):c.1877A>G (p.Asn626Ser)	KCNT1 (N581S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3758200	NM_020822.3(KCNT1):c.1573G>A (p.Ala525Thr)	KCNT1 (A480T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3758126	NM_020822.3(KCNT1):c.2045G>T (p.Arg682Leu)	KCNT1 (R637L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3757784	NM_020822.3(KCNT1):c.675+9G>A	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3757667	NM_020822.3(KCNT1):c.3537_3543del (p.Ser1178_Tyr1179insTer)	KCNT1	Deletion (nonsense)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3757488	NM_020822.3(KCNT1):c.3458T>G (p.Val1153Gly)	KCNT1 (V1108G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3757211	NM_020822.3(KCNT1):c.1080G>C (p.Gly360=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3757087	NM_020822.3(KCNT1):c.2073G>A (p.Gly691=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3757040	NM_020822.3(KCNT1):c.1338-5T>C	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3756864	NM_020822.3(KCNT1):c.2168_2175del (p.Leu723fs)	KCNT1 (L678fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3756850	NM_020822.3(KCNT1):c.2690C>A (p.Ala897Glu)	KCNT1 (A852E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3756818	NM_020822.3(KCNT1):c.1769+10G>C	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3756615	NM_020822.3(KCNT1):c.3178-18C>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3756577	NM_020822.3(KCNT1):c.785G>C (p.Arg262Pro)	KCNT1 (R214P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GPathogenic
Select item 3756498	NM_020822.3(KCNT1):c.1620-6C>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3756411	NM_020822.3(KCNT1):c.2807A>G (p.Asp936Gly)	KCNT1 (D891G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely pathogenic
Select item 3756327	NM_020822.3(KCNT1):c.2881dup (p.Arg961fs)	KCNT1 (R916fs +1 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3756287	NM_020822.3(KCNT1):c.557T>C (p.Ile186Thr)	KCNT1 (I138T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3756252	NM_020822.3(KCNT1):c.1884C>A (p.Thr628=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3756250	NM_020822.3(KCNT1):c.2590G>T (p.Asp864Tyr)	KCNT1 (D819Y +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3756248	NM_020822.3(KCNT1):c.156del (p.Phe52fs)	KCNT1 (F52fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3756159	NM_020822.3(KCNT1):c.910T>C (p.Ser304Pro)	KCNT1 (S259P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3755913	NM_020822.3(KCNT1):c.808C>T (p.Gln270Ter)	KCNT1 (Q222* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3755786	NM_020822.3(KCNT1):c.734C>T (p.Ala245Val)	KCNT1 (A197V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3755540	NM_020822.3(KCNT1):c.2369A>C (p.Tyr790Ser)	KCNT1 (Y745S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3755264	NM_020822.3(KCNT1):c.3178-17_3180dup	KCNT1	Duplication (splice acceptor variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3755262	NM_020822.3(KCNT1):c.921C>G (p.Phe307Leu)	KCNT1 (F262L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3755155	NM_020822.3(KCNT1):c.2730-5C>G	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3755152	NM_020822.3(KCNT1):c.3178-26_3178-13del	KCNT1	Deletion (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3755073	NM_020822.3(KCNT1):c.2900G>A (p.Gly967Asp)	KCNT1 (G967D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3755054	NM_020822.3(KCNT1):c.540+7G>A	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3754908	NM_020822.3(KCNT1):c.2350-11T>G	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3754847	NM_020822.3(KCNT1):c.356A>T (p.Asn119Ile)	KCNT1 (N119I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3754767	NM_020822.3(KCNT1):c.2914A>G (p.Ile972Val)	KCNT1 (I927V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance

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