ClinVar for MedGen (Select 767109) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377600	NM_001326342.2(CELF2):c.1015A>T (p.Met339Leu)	CELF2 (M104L +7 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14	GUncertain significance
Select item 3370304	NM_020822.3(KCNT1):c.1310T>C (p.Leu437Pro)	KCNT1 (L392P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely pathogenic
Select item 3362361	NM_020822.3(KCNT1):c.2125_2137dup (p.Val713fs)	KCNT1 (V668fs +1 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 14	GLikely pathogenic
Select item 3359003	NM_020822.3(KCNT1):c.2915T>A (p.Ile972Asn)	KCNT1 (I927N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14	GUncertain significance
Select item 3255219	NM_020822.3(KCNT1):c.2651A>T (p.Asp884Val)	KCNT1 (D839V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14	GLikely pathogenic
Select item 3254667	NM_020822.3(KCNT1):c.3587+2T>A	KCNT1	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 14	GUncertain significance
Select item 3245257	NC_000009.11:g.(?_138683623)_(138684007_?)dup	KCNT1	Duplication	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3245256	NC_000009.11:g.(?_138676361)_(138676755_?)dup	KCNT1	Duplication	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3245255	NC_000009.11:g.(?_138676361)_(138676484_?)del	KCNT1	Deletion	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3245254	NC_000009.11:g.(?_138606403)_(138606586_?)del	KCNT1	Deletion	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 3245252	NC_000009.11:g.(?_138662683)_(138662961_?)del	KCNT1	Deletion	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 3242041	NM_020822.3(KCNT1):c.1473C>G (p.Ile491Met)	KCNT1 (I446M +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14	GUncertain significance
Select item 3234077	NM_020822.3(KCNT1):c.1004T>A (p.Ile335Asn)	KCNT1 (I290N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14	GUncertain significance
Select item 3067996	NM_020822.3(KCNT1):c.2890T>C (p.Phe964Leu)	KCNT1 (F919L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14	GUncertain significance
Select item 3065427	NM_020822.3(KCNT1):c.743C>T (p.Ala248Val)	KCNT1 (A200V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14	GUncertain significance
Select item 3064484	NM_020822.3(KCNT1):c.2576T>C (p.Met859Thr)	KCNT1 (M814T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14	GUncertain significance
Select item 2954536	NM_020822.3(KCNT1):c.742G>A (p.Ala248Thr)	KCNT1 (A200T +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more	GUncertain significance
Select item 2954484	NM_020822.3(KCNT1):c.1200G>T (p.Gln400His)	KCNT1 (Q355H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2954400	NM_020822.3(KCNT1):c.1619+16C>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2954195	NM_020822.3(KCNT1):c.3178-1G>A	KCNT1	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2954010	NM_020822.3(KCNT1):c.111-4G>A	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2954004	NM_020822.3(KCNT1):c.1540_1543dup (p.Ala515fs)	KCNT1 (A470fs +1 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2953880	NM_020822.3(KCNT1):c.3433G>A (p.Glu1145Lys)	KCNT1 (E1100K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2953636	NM_020822.3(KCNT1):c.434+14G>A	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2953486	NM_020822.3(KCNT1):c.1609T>A (p.Ser537Thr)	KCNT1 (S492T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2953377	NM_020822.3(KCNT1):c.601-14C>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2953116	NM_020822.3(KCNT1):c.3614C>G (p.Ala1205Gly)	KCNT1 (A1181G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2952966	NM_020822.3(KCNT1):c.2108C>T (p.Ser703Leu)	KCNT1 (S658L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2952932	NM_020822.3(KCNT1):c.2305C>T (p.Leu769Phe)	KCNT1 (L769F +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2952566	NM_020822.3(KCNT1):c.3526A>G (p.Thr1176Ala)	KCNT1 (T1176A +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2952016	NM_020822.3(KCNT1):c.2522+12G>A	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2951910	NM_020822.3(KCNT1):c.2523-14C>T	KCNT1	Single nucleotide variant (intron 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)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2951555	NM_020822.3(KCNT1):c.1953G>A (p.Gln651=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2951489	NM_020822.3(KCNT1):c.759+11G>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2951463	NM_020822.3(KCNT1):c.3328C>T (p.Leu1110=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2951421	NM_020822.3(KCNT1):c.675+17_676-22del	KCNT1	Deletion (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2951415	NM_020822.3(KCNT1):c.855-9G>A	KCNT1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2951394	NM_020822.3(KCNT1):c.3128C>G (p.Thr1043Arg)	KCNT1 (T1043R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2951301	NM_020822.3(KCNT1):c.2013A>C (p.Thr671=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2951205	NM_020822.3(KCNT1):c.1200+5G>A	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2950963	NM_020822.3(KCNT1):c.2469C>A (p.Ala823=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2950803	NM_020822.3(KCNT1):c.1200+12_1200+13delinsGC	KCNT1	Indel (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2950621	NM_020822.3(KCNT1):c.2730-4C>G	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2950399	NM_020822.3(KCNT1):c.165C>T (p.Ser55=)	KCNT1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2950299	NM_020822.3(KCNT1):c.2522+28_2522+82del	KCNT1	Deletion (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2949986	NM_020822.3(KCNT1):c.1234A>T (p.Met412Leu)	KCNT1 (M367L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2949953	NM_020822.3(KCNT1):c.3178-14C>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2949949	NM_020822.3(KCNT1):c.111-18G>C	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2949836	NM_020822.3(KCNT1):c.2787C>T (p.Phe929=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2949714	NM_020822.3(KCNT1):c.1612C>A (p.Arg538Ser)	KCNT1 (R493S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2949234	NM_020822.3(KCNT1):c.1448C>G (p.Pro483Arg)	KCNT1 (P438R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2949231	NM_020822.3(KCNT1):c.2523-5del	KCNT1	Deletion (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GBenign
Select item 2949027	NM_020822.3(KCNT1):c.1788C>G (p.Ile596Met)	KCNT1 (I551M +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2948818	NM_020822.3(KCNT1):c.1610C>A (p.Ser537Tyr)	KCNT1 (S537Y +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2948630	NM_020822.3(KCNT1):c.1281G>T (p.Gln427His)	KCNT1 (Q382H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2948358	NM_020822.3(KCNT1):c.3503-10T>C	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2948341	NM_020822.3(KCNT1):c.582C>T (p.Leu194=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2948292	NM_020822.3(KCNT1):c.3464A>G (p.Asn1155Ser)	KCNT1 (N1110S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2948132	NM_020822.3(KCNT1):c.1770-3C>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2947694	NM_020822.3(KCNT1):c.2766C>G (p.Thr922=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2947549	NM_020822.3(KCNT1):c.1979T>C (p.Leu660Pro)	KCNT1 (L660P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2947220	NM_020822.3(KCNT1):c.2350-8G>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2947062	NM_020822.3(KCNT1):c.2099_2103dup (p.Gly702fs)	KCNT1 (G657fs +1 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2946990	NM_020822.3(KCNT1):c.334+16G>A	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2946859	NM_020822.3(KCNT1):c.433T>C (p.Cys145Arg)	KCNT1 (C97R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2946753	NM_020822.3(KCNT1):c.1399G>A (p.Ala467Thr)	KCNT1 (A467T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2946596	NM_020822.3(KCNT1):c.2746A>G (p.Ser916Gly)	KCNT1 (S871G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2946467	NM_020822.3(KCNT1):c.2008+16C>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2946464	NM_020822.3(KCNT1):c.2214G>T (p.Pro738=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2946406	NM_020822.3(KCNT1):c.540+14C>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2946087	NM_020822.3(KCNT1):c.672C>T (p.Ile224=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2945764	NM_020822.3(KCNT1):c.2242G>T (p.Glu748Ter)	KCNT1 (E703* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2945464	NM_020822.3(KCNT1):c.2464C>A (p.Arg822=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2945408	NM_020822.3(KCNT1):c.2211G>T (p.Thr737=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2945368	NM_020822.3(KCNT1):c.1675A>C (p.Asn559His)	KCNT1 (N514H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2945207	NM_020822.3(KCNT1):c.2543_2544insCCA (p.Glu848delinsAspGln)	KCNT1	Insertion (inframe_indel)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2945155	NM_020822.3(KCNT1):c.183G>A (p.Val61=)	KCNT1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2945079	NM_020822.3(KCNT1):c.626G>T (p.Arg209Leu)	KCNT1 (R161L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2945038	NM_020822.3(KCNT1):c.748G>C (p.Glu250Gln)	KCNT1 (E202Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2944978	NM_020822.3(KCNT1):c.3178T>C (p.Ser1060Pro)	KCNT1 (S1015P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2944929	NM_020822.3(KCNT1):c.451C>G (p.Gln151Glu)	KCNT1 (Q151E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2944896	NM_020822.3(KCNT1):c.1809C>A (p.Asn603Lys)	KCNT1 (N558K +1 more)	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)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2944745	NM_020822.3(KCNT1):c.2407A>G (p.Ile803Val)	KCNT1 (I758V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2944683	NM_020822.3(KCNT1):c.759+13G>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2944326	NM_020822.3(KCNT1):c.2727C>A (p.Phe909Leu)	KCNT1 (F864L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +2 more	GUncertain significance
Select item 2944178	NM_020822.3(KCNT1):c.600+3G>A	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2944090	NM_020822.3(KCNT1):c.540G>A (p.Gln180=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2943704	NM_020822.3(KCNT1):c.118T>C (p.Cys40Arg)	KCNT1 (C40R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2943562	NM_020822.3(KCNT1):c.943G>A (p.Val315Met)	KCNT1 (V270M +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2943529	NM_020822.3(KCNT1):c.3679_3690del (p.Pro1227_Arg1230del)	KCNT1	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2943512	NM_020822.3(KCNT1):c.1874T>A (p.Ile625Asn)	KCNT1 (I580N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2943200	NM_020822.3(KCNT1):c.3177+16G>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2943005	NM_020822.3(KCNT1):c.760-20A>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2942972	NM_020822.3(KCNT1):c.360C>G (p.Phe120Leu)	KCNT1 (F72L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2942950	NM_020822.3(KCNT1):c.394G>A (p.Val132Met)	KCNT1 (V84M +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 2942929	NM_020822.3(KCNT1):c.255-14C>T	KCNT1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2942902	NM_020822.3(KCNT1):c.2091G>A (p.Leu697=)	KCNT1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 14 +1 more	GLikely benign
Select item 2942800	NM_020822.3(KCNT1):c.110+3dup	KCNT1	Duplication (intron variant)	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance

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