C4748988[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 767734	NM_001205293.3(CACNA1E):c.57G>A (p.Ser19=)	CACNA1E	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign/Likely benign
Select item 1678453	NM_001205293.3(CACNA1E):c.156G>C (p.Leu52Phe)	CACNA1E (L52F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GUncertain significance
Select item 1482994	NM_001205293.3(CACNA1E):c.176G>A (p.Arg59Gln)	CACNA1E (R59Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GConflicting classifications of pathogenicity
Select item 1384428	NM_001205293.3(CACNA1E):c.218G>A (p.Gly73Glu)	CACNA1E (G73E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GUncertain significance
Select item 1331279	NM_001205293.3(CACNA1E):c.246C>G (p.Ala82=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1307975	NM_001205293.3(CACNA1E):c.364C>T (p.Arg122Ter)	CACNA1E (R122*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 69 +1 more	GUncertain significance
Select item 1301213	NM_001205293.3(CACNA1E):c.373-14C>T	CACNA1E	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1302856	NM_001205293.3(CACNA1E):c.501G>C (p.Val167=)	CACNA1E	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign
Select item 1176522	NM_001205293.3(CACNA1E):c.549C>T (p.His183=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1327690	NM_001205293.3(CACNA1E):c.617-16C>T	CACNA1E	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1657899	NM_001205293.3(CACNA1E):c.639C>T (p.Ser213=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1235741	NM_001205293.3(CACNA1E):c.750A>G (p.Ala250=)	CACNA1E	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign
Select item 1229408	NM_001205293.3(CACNA1E):c.813G>A (p.Gln271=)	CACNA1E	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign
Select item 1166256	NM_001205293.3(CACNA1E):c.954C>T (p.Thr318=)	CACNA1E	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign
Select item 1167748	NM_001205293.3(CACNA1E):c.1023T>C (p.Phe341=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1251747	NM_001205293.3(CACNA1E):c.1053C>T (p.Ser351=)	CACNA1E	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign/Likely benign
Select item 1244078	NM_001205293.3(CACNA1E):c.1053C>A (p.Ser351=)	CACNA1E	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign/Likely benign
Select item 265066	NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)	CACNA1E (G352R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1293263	NM_001205293.3(CACNA1E):c.1056-8G>A	CACNA1E	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign
Select item 1335001	NM_001205293.3(CACNA1E):c.1113G>A (p.Arg371=)	CACNA1E	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 69 +1 more	GLikely benign
Select item 1166199	NM_001205293.3(CACNA1E):c.1119G>A (p.Gln373=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1238380	NM_001205293.3(CACNA1E):c.1171+13G>A	CACNA1E	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign
Select item 2076045	NM_001205293.3(CACNA1E):c.1208G>C (p.Gly403Ala)	CACNA1E (G403A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +2 more	GLikely benign
Select item 1176523	NM_001205293.3(CACNA1E):c.1215C>A (p.Ser405=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1192682	NM_001205293.3(CACNA1E):c.1225+78A>G	CACNA1E	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign
Select item 1443215	NM_001205293.3(CACNA1E):c.1231C>T (p.Arg411Ter)	CACNA1E (R411*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1605463	NM_001205293.3(CACNA1E):c.1256G>A (p.Arg419Gln)	CACNA1E (R419Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +2 more	GLikely benign
Select item 2181144	NM_001205293.3(CACNA1E):c.1274G>C (p.Arg425Pro)	CACNA1E (R425P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +2 more	GLikely benign
Select item 1170815	NM_001205293.3(CACNA1E):c.1308C>G (p.Ser436=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1275169	NM_001205293.3(CACNA1E):c.1315+12C>G	CACNA1E	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign
Select item 1192683	NM_001205293.3(CACNA1E):c.1316-13T>C	CACNA1E	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign
Select item 1013540	NM_001205293.3(CACNA1E):c.1569G>A (p.Met523Ile)	CACNA1E (M523I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1254344	NM_001205293.3(CACNA1E):c.1638+10C>A	CACNA1E	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1182301	NM_001205293.3(CACNA1E):c.1639-19G>A	CACNA1E	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign
Select item 1213689	NM_001205293.3(CACNA1E):c.1696T>C (p.Phe566Leu)	CACNA1E (F566L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GUncertain significance
Select item 1438863	NM_001205293.3(CACNA1E):c.1843G>A (p.Val615Ile)	CACNA1E (V615I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GUncertain significance
Select item 1684790	NM_001205293.3(CACNA1E):c.1883+9C>G	CACNA1E	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 752993	NM_001205293.3(CACNA1E):c.1935A>G (p.Ala645=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1302997	NM_001205293.3(CACNA1E):c.1956+19G>A	CACNA1E	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign/Likely benign
Select item 870847	NM_001205293.3(CACNA1E):c.2094C>A (p.Phe698Leu)	CACNA1E (F698L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 521483	NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)	CACNA1E (A702T)	Single nucleotide variant (missense variant)	Van der Woude syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 1273940	NM_001205293.3(CACNA1E):c.2124C>T (p.Asn708=)	CACNA1E	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign
Select item 1649733	NM_001205293.3(CACNA1E):c.2260C>T (p.His754Tyr)	CACNA1E (H754Y)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1514092	NM_001205293.3(CACNA1E):c.2294A>G (p.His765Arg)	CACNA1E (H765R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 69 +2 more	GUncertain significance
Select item 1192684	NM_001205293.3(CACNA1E):c.2298-97C>T	CACNA1E	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign
Select item 1300848	NM_001205293.3(CACNA1E):c.2298-16C>T	CACNA1E	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1329624	NM_001205293.3(CACNA1E):c.2298G>A (p.Leu766=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1994530	NM_001205293.3(CACNA1E):c.2317CAC[1] (p.His774del)	CACNA1E (H755del +1 more)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1261104	NM_001205293.3(CACNA1E):c.2328C>T (p.Ser776=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1553812	NM_001205293.3(CACNA1E):c.2408C>T (p.Pro803Leu)	CACNA1E (P784L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +2 more	GBenign/Likely benign
Select item 1639208	NM_001205293.3(CACNA1E):c.2421G>A (p.Pro807=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1314898	NM_001205293.3(CACNA1E):c.2470C>T (p.Pro824Ser)	CACNA1E (P805S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1234203	NM_001205293.3(CACNA1E):c.2492G>C (p.Arg831Thr)	CACNA1E (R812T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +2 more	GBenign/Likely benign
Select item 1591520	NM_001205293.3(CACNA1E):c.2504GCCTGGCCCTGG[1] (p.835GLAL[1])	CACNA1E	Microsatellite (inframe_deletion)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1234416	NM_001205293.3(CACNA1E):c.2577T>A (p.Asp859Glu)	CACNA1E (D840E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 783301	NM_001205293.3(CACNA1E):c.2588G>A (p.Arg863Gln)	CACNA1E (R863Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign/Likely benign
Select item 1675271	NM_001205293.3(CACNA1E):c.2670A>C (p.Gly890=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1283121	NM_001205293.3(CACNA1E):c.2681C>T (p.Pro894Leu)	CACNA1E (P875L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1447283	NM_001205293.3(CACNA1E):c.2755C>T (p.Arg919Trp)	CACNA1E (R900W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1179829	NM_001205293.3(CACNA1E):c.2756G>A (p.Arg919Gln)	CACNA1E (R900Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1619291	NM_001205293.3(CACNA1E):c.2765G>A (p.Arg922Gln)	CACNA1E (R903Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +2 more	GLikely benign
Select item 1327244	NM_001205293.3(CACNA1E):c.2767C>T (p.His923Tyr)	CACNA1E (H904Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1302882	NM_001205293.3(CACNA1E):c.2776G>A (p.Val926Ile)	CACNA1E (V907I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1236232	NM_001205293.3(CACNA1E):c.2967G>A (p.Val989=)	CACNA1E	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign/Likely benign
Select item 1593210	NM_001205293.3(CACNA1E):c.2980G>A (p.Gly994Arg)	CACNA1E (G975R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1254273	NM_001205293.3(CACNA1E):c.2992G>A (p.Gly998Ser)	CACNA1E (G979S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign/Likely benign
Select item 1170212	NM_001205293.3(CACNA1E):c.3012C>A (p.Thr1004=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1630617	NM_001205293.3(CACNA1E):c.3015C>G (p.Pro1005=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1352660	NM_001205293.3(CACNA1E):c.3054C>A (p.His1018Gln)	CACNA1E (H1018Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1165451	NM_001205293.3(CACNA1E):c.3055G>A (p.Val1019Met)	CACNA1E (V1000M +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +2 more	GBenign/Likely benign
Select item 1168089	NM_001205293.3(CACNA1E):c.3065C>T (p.Thr1022Met)	CACNA1E (T1003M +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign/Likely benign
Select item 1945755	NM_001205293.3(CACNA1E):c.3097G>A (p.Ala1033Thr)	CACNA1E (A1014T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GUncertain significance
Select item 1582246	NM_001205293.3(CACNA1E):c.3124A>G (p.Met1042Val)	CACNA1E (M1023V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1237545	NM_001205293.3(CACNA1E):c.3183C>G (p.Asp1061Glu)	CACNA1E (D1042E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1168381	NM_001205293.3(CACNA1E):c.3207C>T (p.Ser1069=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1430199	NM_001205293.3(CACNA1E):c.3214G>A (p.Val1072Ile)	CACNA1E (V1072I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GUncertain significance
Select item 1304580	NM_001205293.3(CACNA1E):c.3229G>A (p.Val1077Met)	CACNA1E (V1058M +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +2 more	GBenign/Likely benign
Select item 1466152	NM_001205293.3(CACNA1E):c.3253G>A (p.Val1085Met)	CACNA1E (V1066M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1301042	NM_001205293.3(CACNA1E):c.3263-16C>T	CACNA1E	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1244638	NM_001205293.3(CACNA1E):c.3263-15G>A	CACNA1E	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign
Select item 1235358	NM_001205293.3(CACNA1E):c.3263-13G>A	CACNA1E	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign
Select item 1300293	NM_001205293.3(CACNA1E):c.3270C>T (p.Asn1090=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1581901	NM_001205293.3(CACNA1E):c.3327G>A (p.Glu1109=)	CACNA1E	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 69 +1 more	GLikely benign
Select item 1536727	NM_001205293.3(CACNA1E):c.3361C>T (p.Arg1121Cys)	CACNA1E (R1102C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2186654	NM_001205293.3(CACNA1E):c.3445A>G (p.Ile1149Val)	CACNA1E (I1130V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +2 more	GUncertain significance
Select item 1226924	NM_001205293.3(CACNA1E):c.3447C>T (p.Ile1149=)	CACNA1E	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign
Select item 1953322	NM_001205293.3(CACNA1E):c.3505G>A (p.Ala1169Thr)	CACNA1E (A1150T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1462240	NM_001205293.3(CACNA1E):c.3512C>T (p.Ala1171Val)	CACNA1E (A1152V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1640682	NM_001205293.3(CACNA1E):c.3540G>A (p.Ser1180=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1321587	NM_001205293.3(CACNA1E):c.3543G>A (p.Glu1181=)	CACNA1E	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign/Likely benign
Select item 1251961	NM_001205293.3(CACNA1E):c.3544C>T (p.Arg1182Cys)	CACNA1E (R1163C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GUncertain significance
Select item 1574216	NM_001205293.3(CACNA1E):c.3696C>T (p.Gly1232=)	CACNA1E	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 69 +1 more	GLikely benign
Select item 2007614	NM_001205293.3(CACNA1E):c.3719+1G>A	CACNA1E	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 69 +1 more	GUncertain significance
Select item 1599383	NM_001205293.3(CACNA1E):c.3723C>T (p.Asn1241=)	CACNA1E	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign/Likely benign
Select item 1632935	NM_001205293.3(CACNA1E):c.3731+13G>A	CACNA1E	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 69 +1 more	GLikely benign
Select item 1192685	NM_001205293.3(CACNA1E):c.3731+56C>T	CACNA1E	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign
Select item 1293102	NM_001205293.3(CACNA1E):c.3732-14C>T	CACNA1E	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1240675	NM_001205293.3(CACNA1E):c.3837C>T (p.Phe1279=)	CACNA1E	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign
Select item 1372444	NM_001205293.3(CACNA1E):c.3838G>A (p.Asp1280Asn)	CACNA1E (D1280N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1243932	NM_001205293.3(CACNA1E):c.3989+16G>A	CACNA1E	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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