ClinVar for MedGen (Select 1648381) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256700	NM_001205293.3(CACNA1E):c.4081G>T (p.Ala1361Ser)	CACNA1E (A1342S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 3256683	NM_001205293.3(CACNA1E):c.3898A>C (p.Met1300Leu)	CACNA1E (M1281L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 3254659	NM_001205293.3(CACNA1E):c.3697G>A (p.Ala1233Thr)	CACNA1E (A1214T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GLikely pathogenic
Select item 3250435	NM_001205293.3(CACNA1E):c.3190A>G (p.Thr1064Ala)	CACNA1E (T1045A +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 3236768	NM_001205293.3(CACNA1E):c.498C>G (p.Ile166Met)	CACNA1E (I166M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 3234065	NM_001205293.3(CACNA1E):c.4871T>C (p.Ile1624Thr)	CACNA1E (I1605T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 3064839	NM_001205293.3(CACNA1E):c.3656G>A (p.Arg1219Gln)	CACNA1E (R1200Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 2871777	NM_001205293.3(CACNA1E):c.2351A>G (p.Gln784Arg)	CACNA1E (Q765R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GUncertain significance
Select item 2663929	NM_001205293.3(CACNA1E):c.2740C>T (p.His914Tyr)	CACNA1E (H895Y +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 2627777	NM_001205293.3(CACNA1E):c.6757G>A (p.Glu2253Lys)	CACNA1E (E2191K +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 2584947	NM_001205293.3(CACNA1E):c.2278G>A (p.Glu760Lys)	CACNA1E (E760K)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 2576620	NM_001205293.3(CACNA1E):c.802T>C (p.Cys268Arg)	CACNA1E (C268R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 2574666	NM_000721.4(CACNA1E):c.6529C>T (p.Gln2177Ter)	CACNA1E (Q2158* +2 more)	Single nucleotide variant	Developmental and epileptic encephalopathy, 69	GPathogenic
Select item 2505203	NM_001205293.3(CACNA1E):c.1090C>T (p.Arg364Ter)	CACNA1E (R364*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 69	GLikely pathogenic
Select item 2439667	NM_001205293.3(CACNA1E):c.2588G>T (p.Arg863Leu)	CACNA1E (R844L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 2439666	NM_001205293.3(CACNA1E):c.6095C>T (p.Ser2032Leu)	CACNA1E (S1970L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 2439665	NM_001205293.3(CACNA1E):c.6854G>A (p.Arg2285Gln)	CACNA1E (R2223Q +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GConflicting classifications of pathogenicity
Select item 2439664	NM_001205293.3(CACNA1E):c.494_497dup (p.Val167fs)	CACNA1E (V167fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 2439663	NM_001205293.3(CACNA1E):c.6500G>T (p.Arg2167Leu)	CACNA1E (R2105L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GUncertain significance
Select item 2439661	NM_001205293.3(CACNA1E):c.231T>G (p.Ile77Met)	CACNA1E (I77M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GUncertain significance
Select item 2439660	NM_001205293.3(CACNA1E):c.4661T>G (p.Ile1554Ser)	CACNA1E (I1535S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 2439659	NM_001205293.3(CACNA1E):c.5677C>G (p.Gln1893Glu)	CACNA1E (Q1874E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 2431684	NM_001205293.3(CACNA1E):c.2288G>A (p.Ser763Asn)	CACNA1E (S763N)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 2412925	NM_001205293.3(CACNA1E):c.4565C>T (p.Ser1522Phe)	CACNA1E (S1503F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 2139785	NM_001205293.3(CACNA1E):c.4714A>T (p.Met1572Leu)	CACNA1E (M1553L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +2 more	GLikely benign
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 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 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 1963591	NM_001205293.3(CACNA1E):c.4741G>T (p.Ala1581Ser)	CACNA1E (A1581S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GUncertain significance
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 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 1916575	NM_001205293.3(CACNA1E):c.5795G>A (p.Arg1932Gln)	CACNA1E (R1932Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +2 more	GLikely benign
Select item 1916024	NM_001205293.3(CACNA1E):c.6922G>C (p.Glu2308Gln)	CACNA1E (E2265Q +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GLikely benign
Select item 1900265	NM_001205293.3(CACNA1E):c.6568G>A (p.Glu2190Lys)	CACNA1E (E2128K +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +2 more	GBenign/Likely benign
Select item 1878562	NM_001205293.3(CACNA1E):c.1621A>G (p.Asn541Asp)	CACNA1E (N541D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 1806369	NM_001205293.3(CACNA1E):c.6581C>G (p.Pro2194Arg)	CACNA1E (P2132R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 1804937	NM_001205293.3(CACNA1E):c.2603A>G (p.Asp868Gly)	CACNA1E (D849G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 1703708	NM_001205293.3(CACNA1E):c.2104G>T (p.Ala702Ser)	CACNA1E (A702S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GPathogenic
Select item 1700875	NM_001205293.3(CACNA1E):c.3266G>A (p.Ser1089Asn)	CACNA1E (S1070N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GUncertain significance
Select item 1699232	NM_001205293.3(CACNA1E):c.4165C>T (p.Arg1389Ter)	CACNA1E (R1370* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 1699002	NM_001205293.3(CACNA1E):c.2387C>T (p.Ala796Val)	CACNA1E (A777V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 1696595	NM_001205293.3(CACNA1E):c.951+29674C>T	CACNA1E	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 1694537	NM_001205293.3(CACNA1E):c.5524A>G (p.Ile1842Val)	CACNA1E (I1823V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1694535	NM_001205293.3(CACNA1E):c.4433C>T (p.Pro1478Leu)	CACNA1E (P1459L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1685598	NM_001205293.3(CACNA1E):c.3940A>C (p.Lys1314Gln)	CACNA1E (K1295Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GPathogenic
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 1679644	NM_001205293.3(CACNA1E):c.6901A>G (p.Asn2301Asp)	CACNA1E (N2239D +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
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 1675271	NM_001205293.3(CACNA1E):c.2670A>C (p.Gly890=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1674418	NM_001205293.3(CACNA1E):c.6228C>T (p.His2076=)	CACNA1E	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 69 +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 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 1648367	NM_001205293.3(CACNA1E):c.6864C>T (p.Arg2288=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1639208	NM_001205293.3(CACNA1E):c.2421G>A (p.Pro807=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely 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 1630617	NM_001205293.3(CACNA1E):c.3015C>G (p.Pro1005=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely 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 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 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 1599075	NM_001205293.3(CACNA1E):c.6530G>A (p.Arg2177Gln)	CACNA1E (R2115Q +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +2 more	GBenign/Likely benign
Select item 1598076	NM_001205293.3(CACNA1E):c.5855T>C (p.Met1952Thr)	CACNA1E (M1933T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +2 more	GLikely 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 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 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 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 1578624	NM_001205293.3(CACNA1E):c.4101C>T (p.Thr1367=)	CACNA1E	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 69 +1 more	GLikely benign
Select item 1578107	NM_001205293.3(CACNA1E):c.56C>T (p.Ser19Leu)	CACNA1E (S19L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +2 more	GConflicting classifications of pathogenicity
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 1573285	NM_001205293.3(CACNA1E):c.2555G>A (p.Arg852His)	CACNA1E (R833H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 1529355	NM_001205293.3(CACNA1E):c.4102G>A (p.Val1368Ile)	CACNA1E (V1349I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1523555	NM_001205293.3(CACNA1E):c.6611A>G (p.Asn2204Ser)	CACNA1E (N2204S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1522671	NM_001205293.3(CACNA1E):c.6341C>T (p.Pro2114Leu)	CACNA1E (P2071L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1496889	NM_001205293.3(CACNA1E):c.241T>C (p.Tyr81His)	CACNA1E (Y81H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +2 more	GConflicting classifications of pathogenicity
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 1476592	NM_001205293.3(CACNA1E):c.6857G>A (p.Arg2286Gln)	CACNA1E (R2286Q +2 more)	Single nucleotide variant (missense variant)	not provided +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 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 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 1443215	NM_001205293.3(CACNA1E):c.1231C>T (p.Arg411Ter)	CACNA1E (R411*)	Single nucleotide variant (nonsense)	not provided +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 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 1406622	NM_001205293.3(CACNA1E):c.3262A>G (p.Ile1088Val)	CACNA1E (I1069V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GConflicting classifications of pathogenicity
Select item 1388891	NM_001205293.3(CACNA1E):c.6230G>A (p.Arg2077His)	CACNA1E (R2015H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
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 1383761	NM_001205293.3(CACNA1E):c.3235C>T (p.Pro1079Ser)	CACNA1E (P1079S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1382446	NM_001205293.3(CACNA1E):c.6516C>T (p.Tyr2172=)	CACNA1E	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 69 +1 more	GLikely benign
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 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 1342652	NM_001205293.3(CACNA1E):c.513-15449G>A	CACNA1E	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 1342367	NM_001205293.3(CACNA1E):c.[2253G>A;2255G>A]	CACNA1E (R752K)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 1342125	NM_001205293.3(CACNA1E):c.6248G>A (p.Arg2083Gln)	CACNA1E (R2021Q +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 1341906	NM_001205293.3(CACNA1E):c.3612+226A>G	CACNA1E	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 1341847	NM_001205293.3(CACNA1E):c.3160_3161dup (p.Cys1055fs)	CACNA1E (C1036fs +1 more)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
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

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