"Ambry Genetics"[submitter] AND "CACNA1E"[gene] - ClinVar

Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1708857	NM_001205293.3(CACNA1E):c.50G>A (p.Gly17Glu)	CACNA1E (G17E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1578107	NM_001205293.3(CACNA1E):c.56C>T (p.Ser19Leu)	CACNA1E (S19L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 2610989	NM_001205293.3(CACNA1E):c.278A>G (p.Tyr93Cys)	CACNA1E (Y93C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299733	NM_001205293.3(CACNA1E):c.355C>G (p.Pro119Ala)	CACNA1E (P119A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 265066	NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)	CACNA1E (G352R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 2076045	NM_001205293.3(CACNA1E):c.1208G>C (p.Gly403Ala)	CACNA1E (G403A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2276927	NM_001205293.3(CACNA1E):c.1232G>A (p.Arg411Gln)	CACNA1E (R411Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	not provided +2 more	GLikely benign
Select item 521400	NM_001205293.3(CACNA1E):c.2069G>A (p.Gly690Asp)	CACNA1E (G690D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527482	NM_001205293.3(CACNA1E):c.2075-5C>T	CACNA1E	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 224995	NM_001205293.3(CACNA1E):c.2093T>C (p.Phe698Ser)	CACNA1E (F698S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely 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 1649733	NM_001205293.3(CACNA1E):c.2260C>T (p.His754Tyr)	CACNA1E (H754Y)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 69 +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)	Inborn genetic diseases +2 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 2327722	NM_001205293.3(CACNA1E):c.2347A>G (p.Ser783Gly)	CACNA1E (S764G +1 more)	Single nucleotide variant (missense variant)	CACNA1E-related condition +1 more	GUncertain significance
Select item 2253830	NM_001205293.3(CACNA1E):c.2369A>G (p.Gln790Arg)	CACNA1E (Q790R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1553812	NM_001205293.3(CACNA1E):c.2408C>T (p.Pro803Leu)	CACNA1E (P784L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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)	CACNA1E-related condition +3 more	GBenign/Likely benign
Select item 1591520	NM_001205293.3(CACNA1E):c.2504GCCTGGCCCTGG[1] (p.835GLAL[1])	CACNA1E	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 69 +2 more	GBenign/Likely benign
Select item 522171	NM_001205293.3(CACNA1E):c.2551A>G (p.Ser851Gly)	CACNA1E (S851G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 225022	NM_001205293.3(CACNA1E):c.2635C>T (p.Arg879Trp)	CACNA1E (R879W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1283121	NM_001205293.3(CACNA1E):c.2681C>T (p.Pro894Leu)	CACNA1E (P875L +1 more)	Single nucleotide variant (missense variant)	CACNA1E-related condition +3 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)	not provided +2 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 2539224	NM_001205293.3(CACNA1E):c.2810C>T (p.Ser937Phe)	CACNA1E (S918F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1593210	NM_001205293.3(CACNA1E):c.2980G>A (p.Gly994Arg)	CACNA1E (G975R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1303935	NM_001205293.3(CACNA1E):c.3011C>A (p.Thr1004Asn)	CACNA1E (T1004N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2463073	NM_001205293.3(CACNA1E):c.3106G>A (p.Gly1036Arg)	CACNA1E (G1017R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1582246	NM_001205293.3(CACNA1E):c.3124A>G (p.Met1042Val)	CACNA1E (M1023V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +2 more	GLikely benign
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)	Developmental and epileptic encephalopathy, 69 +2 more	GUncertain significance
Select item 1536727	NM_001205293.3(CACNA1E):c.3361C>T (p.Arg1121Cys)	CACNA1E (R1102C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +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 1583964	NM_001205293.3(CACNA1E):c.3457C>T (p.Arg1153Cys)	CACNA1E (R1134C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1519002	NM_001205293.3(CACNA1E):c.3539C>T (p.Ser1180Leu)	CACNA1E (S1161L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2617344	NM_001205293.3(CACNA1E):c.3961A>C (p.Ser1321Arg)	CACNA1E (S1302R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 986059	NM_001205293.3(CACNA1E):c.4268T>C (p.Ile1423Thr)	CACNA1E (I1404T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 521937	NM_001205293.3(CACNA1E):c.4288G>A (p.Gly1430Arg)	CACNA1E (G1430R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228794	NM_001205293.3(CACNA1E):c.4490T>C (p.Met1497Thr)	CACNA1E (M1478T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328551	NM_001205293.3(CACNA1E):c.4498T>C (p.Tyr1500His)	CACNA1E (Y1500H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227831	NM_001205293.3(CACNA1E):c.4606-4G>A	CACNA1E	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1531876	NM_001205293.3(CACNA1E):c.4689+5A>G	CACNA1E	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2139785	NM_001205293.3(CACNA1E):c.4714A>T (p.Met1572Leu)	CACNA1E (M1553L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1302847	NM_001205293.3(CACNA1E):c.4816-3C>T	CACNA1E	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1473553	NM_001205293.3(CACNA1E):c.5027A>G (p.Lys1676Arg)	CACNA1E (K1676R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1328657	NM_001205293.3(CACNA1E):c.5258G>A (p.Arg1753Gln)	CACNA1E (R1734Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 2245900	NM_001205293.3(CACNA1E):c.5274dup (p.Ile1759fs)	CACNA1E (I1740fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 2335976	NM_001205293.3(CACNA1E):c.5647G>C (p.Val1883Leu)	CACNA1E (V1883L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2479457	NM_001205293.3(CACNA1E):c.5673G>C (p.Glu1891Asp)	CACNA1E (E1872D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1916575	NM_001205293.3(CACNA1E):c.5795G>A (p.Arg1932Gln)	CACNA1E (R1932Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1598076	NM_001205293.3(CACNA1E):c.5855T>C (p.Met1952Thr)	CACNA1E (M1933T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2468948	NM_001205293.3(CACNA1E):c.5908G>A (p.Val1970Ile)	CACNA1E (V1970I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2228586	NM_001205293.3(CACNA1E):c.5960C>T (p.Ser1987Leu)	CACNA1E (S1987L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2310723	NM_001205293.3(CACNA1E):c.5978C>T (p.Ala1993Val)	CACNA1E (A1993V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398841	NM_001205293.3(CACNA1E):c.5990G>A (p.Arg1997Lys)	CACNA1E (R1997K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1300602	NM_001205293.3(CACNA1E):c.5990G>T (p.Arg1997Met)	CACNA1E (R1997M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2375303	NM_001205293.3(CACNA1E):c.6007C>T (p.Arg2003Cys)	CACNA1E (R2003C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 521249	NM_001205293.3(CACNA1E):c.6028G>A (p.Val2010Met)	CACNA1E (V2010M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1937548	NM_001205293.3(CACNA1E):c.6074G>A (p.Arg2025Gln)	CACNA1E (R1982Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2490444	NM_001205293.3(CACNA1E):c.6148C>A (p.Arg2050Ser)	CACNA1E (R1988S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985777	NM_001205293.3(CACNA1E):c.6149G>C (p.Arg2050Pro)	CACNA1E (R1988P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236575	NM_001205293.3(CACNA1E):c.6209-3C>T	CACNA1E	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2175172	NM_001205293.3(CACNA1E):c.6223A>G (p.Thr2075Ala)	CACNA1E (T2013A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	Inborn genetic diseases +2 more	GLikely benign
Select item 2480433	NM_001205293.3(CACNA1E):c.6311A>C (p.Glu2104Ala)	CACNA1E (E2042A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1434848	NM_001205293.3(CACNA1E):c.6346C>T (p.Arg2116Cys)	CACNA1E (R2073C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1393214	NM_001205293.3(CACNA1E):c.6434C>T (p.Ser2145Phe)	CACNA1E (S2102F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1599075	NM_001205293.3(CACNA1E):c.6530G>A (p.Arg2177Gln)	CACNA1E (R2115Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1228754	NM_001205293.3(CACNA1E):c.6536C>T (p.Ala2179Val)	CACNA1E (A2117V +2 more)	Single nucleotide variant (missense variant)	CACNA1E-related condition +3 more	GBenign/Likely benign
Select item 1900265	NM_001205293.3(CACNA1E):c.6568G>A (p.Glu2190Lys)	CACNA1E (E2128K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1523555	NM_001205293.3(CACNA1E):c.6611A>G (p.Asn2204Ser)	CACNA1E (N2204S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 2212308	NM_001205293.3(CACNA1E):c.6646C>A (p.Pro2216Thr)	CACNA1E (P2173T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391505	NM_001205293.3(CACNA1E):c.6799G>A (p.Gly2267Ser)	CACNA1E (G2224S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2560608	NM_001205293.3(CACNA1E):c.6851G>A (p.Arg2284Gln)	CACNA1E (R2222Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1476592	NM_001205293.3(CACNA1E):c.6857G>A (p.Arg2286Gln)	CACNA1E (R2286Q +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +2 more	GBenign/Likely benign
Select item 2334511	NM_001205293.3(CACNA1E):c.6890G>A (p.Cys2297Tyr)	CACNA1E (C2235Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1507237	NM_001205293.3(CACNA1E):c.6932A>G (p.Asp2311Gly)	CACNA1E (D2311G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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Items: 81