CACNA1E — 2460 ClinVar variants
All ClinVar germline CACNA1E variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 873 flagged for review →
9 Pathogenic · 6 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 104 Conflicting · 272 Benign · 91 Benign/Likely benign · 1145 Likely benign · 812 Uncertain significance
Full CACNA1E gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 873
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CACNA1E p.Ile603Leu
Pathogenic/Likely pathogenic
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Asp1076Gly
Likely pathogenic
Single submitter
developmental and epileptic encephalopathy, 69
- CACNA1E p.Gly276Asp Likely pathogenic Single submitter
-
CACNA1E p.Ile701Val
Pathogenic
Single submitter
developmental and epileptic encephalopathy, 69
Predictors agree, ClinVar conflicts 59
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CACNA1E p.Ala1126Ser
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Ala1164Val
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Ala1169Thr
Conflicting
Single submitter
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Ala1581Ser
Conflicting
Single submitter
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Ala2222Thr
Conflicting
Single submitter
developmental and epileptic encephalopathy, 69
- CACNA1E p.Ala2269Asp Conflicting Single submitter
-
CACNA1E p.Ala702Val
Conflicting
Single submitter
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Ala802Val
Conflicting
Single submitter
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Arg1153Cys
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Arg1182Cys
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Arg1396Cys
Conflicting
Single submitter
Inborn genetic diseases
- CACNA1E p.Arg196Trp Conflicting Single submitter
-
CACNA1E p.Arg2025Gln
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Arg2028His
Conflicting
Single submitter
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Arg2041Gln
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Arg2285Gln
Conflicting
Single submitter
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Arg59Gln
Conflicting
Single submitter
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Arg762Cys
Conflicting
Single submitter
Inborn genetic diseases
- CACNA1E p.Arg849Ser Conflicting Single submitter
- CACNA1E p.Arg920His Conflicting Single submitter
- CACNA1E p.Arg924Cys Conflicting Single submitter
-
CACNA1E p.Arg925His
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Arg927Gly
Conflicting
Single submitter
Inborn genetic diseases
- CACNA1E p.Asn2302Ser Conflicting Single submitter
-
CACNA1E p.Asn742Tyr
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Asn809Ser
Conflicting
Single submitter
Inborn genetic diseases
- CACNA1E p.Asp1078Gly Conflicting Single submitter
-
CACNA1E p.Asp1697Asn
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Asp2187Asn
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Gln1909Arg
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Gln1909His
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Gly1430Arg
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Gly17Glu
Conflicting
Single submitter
Inborn genetic diseases
- CACNA1E p.Gly1824Ser Conflicting Single submitter
- CACNA1E p.Gly1931Ser Conflicting Single submitter
-
CACNA1E p.His1018Gln
Conflicting
Single submitter
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Ile1088Val
Conflicting
Single submitter
developmental and epileptic encephalopathy, 69
- CACNA1E p.Leu1921Arg Conflicting Single submitter
-
CACNA1E p.Lys1676Arg
Conflicting
Single submitter
Inborn genetic diseases
- CACNA1E p.Lys726Ile Conflicting Single submitter
-
CACNA1E p.Met1042Thr
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Met1795Ile
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Pro1011Leu
Conflicting
Single submitter
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Pro1079Ser
Conflicting
Single submitter
developmental and epileptic encephalopathy, 69
- CACNA1E p.Pro2214Leu Conflicting Single submitter
-
CACNA1E p.Ser1522Phe
Conflicting
Single submitter
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Ser19Leu
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Ser2032Leu
Conflicting
Single submitter
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Ser2202Asn
Conflicting
Single submitter
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Ser947Gly
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Thr1004Asn
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Thr1505Ser
Conflicting
Single submitter
Inborn genetic diseases
- CACNA1E p.Thr1682Ser Conflicting Single submitter
-
CACNA1E p.Thr2023Ser
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Thr2075Ala
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Tyr81His
Conflicting
Single submitter
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Val162Asp
Conflicting
Single submitter
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Val1883Leu
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Val2010Met
Conflicting
Single submitter
Inborn genetic diseases
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
Predictors lean, ClinVar uncertain 459
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 459
-
CACNA1E p.Ala1033Thr
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Ala1171Val
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Ala740Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA1E p.Ala912Gly Uncertain significance Multiple submitters
- CACNA1E p.Ala936Val Uncertain significance Multiple submitters
- CACNA1E p.Arg1261Gln Uncertain significance Multiple submitters
- CACNA1E p.Arg1758Cys Uncertain significance Multiple submitters
- CACNA1E p.Arg1887Lys Uncertain significance Multiple submitters
-
CACNA1E p.Arg2083Gln
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Arg2154Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA1E p.Arg419Trp Uncertain significance Multiple submitters
- CACNA1E p.Arg466His Uncertain significance Multiple submitters
-
CACNA1E p.Arg59Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA1E p.Arg668Cys Uncertain significance Multiple submitters
-
CACNA1E p.Arg772Trp
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
- CACNA1E p.Arg940Ser Uncertain significance Multiple submitters
-
CACNA1E p.Asn2301Asp
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
- CACNA1E p.Asn255His Uncertain significance Multiple submitters
-
CACNA1E p.Asp1076Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Asp1280Asn
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
- CACNA1E p.Asp18Gly Uncertain significance Multiple submitters
-
CACNA1E p.Asp862Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA1E p.Cys492Ser Uncertain significance Multiple submitters
-
CACNA1E p.Gln2128Lys
Uncertain significance
Multiple submitters
genetic developmental and epileptic encephalopathy
-
CACNA1E p.Gln784Arg
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Gln790Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Glu760Lys
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Gly2192Arg
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
- CACNA1E p.Gly225Asp Uncertain significance Multiple submitters
-
CACNA1E p.Gly2267Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Gly2289Arg
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
- CACNA1E p.Gly902Glu Uncertain significance Multiple submitters
-
CACNA1E p.His2215Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.His765Arg
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Ile1149Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Ile1946Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA1E p.Leu1918Gln Uncertain significance Multiple submitters
-
CACNA1E p.Leu52Phe
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
- CACNA1E p.Leu607Arg Uncertain significance Multiple submitters
-
CACNA1E p.Lys1100Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Met1042Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Met1497Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Met1519Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Met163Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA1E p.Met1810Thr Uncertain significance Multiple submitters
-
CACNA1E p.Phe566Leu
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Pro1478Leu
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Pro2114Leu
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Pro2144Leu
Uncertain significance
Multiple submitters
genetic developmental and epileptic encephalopathy
-
CACNA1E p.Ser1089Asn
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Ser1438Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA1E p.Ser1652Pro Uncertain significance Multiple submitters
-
CACNA1E p.Ser1937Leu
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
- CACNA1E p.Ser2305Asn Uncertain significance Multiple submitters
-
CACNA1E p.Thr301Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA1E p.Thr693Met Uncertain significance Multiple submitters
-
CACNA1E p.Trp2111Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Val1072Ile
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Val1077Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Val167Met
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
- CACNA1E p.Val455Ile Uncertain significance Multiple submitters
- CACNA1E p.Ala1002Pro Uncertain significance Single submitter
- CACNA1E p.Ala1058Val Uncertain significance Single submitter
-
CACNA1E p.Ala10Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1E p.Ala1102Ser Uncertain significance Single submitter
- CACNA1E p.Ala1126Thr Uncertain significance Single submitter
- CACNA1E p.Ala1145Asp Uncertain significance Single submitter
- CACNA1E p.Ala1420Thr Uncertain significance Single submitter
- CACNA1E p.Ala1453Thr Uncertain significance Single submitter
- CACNA1E p.Ala1489Thr Uncertain significance Single submitter
- CACNA1E p.Ala1531Thr Uncertain significance Single submitter
- CACNA1E p.Ala1684Ser Uncertain significance Single submitter
-
CACNA1E p.Ala1720Gly
Uncertain significance
Single submitter
developmental and epileptic encephalopathy
- CACNA1E p.Ala1749Glu Uncertain significance Single submitter
- CACNA1E p.Ala174Asp Uncertain significance Single submitter
- CACNA1E p.Ala1826Ser Uncertain significance Single submitter
-
CACNA1E p.Ala1826Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1E p.Ala1860Asp Uncertain significance Single submitter
- CACNA1E p.Ala1860Thr Uncertain significance Single submitter
- CACNA1E p.Ala1896Thr Uncertain significance Single submitter
- CACNA1E p.Ala1913Gly Uncertain significance Single submitter
- CACNA1E p.Ala1917Gly Uncertain significance Single submitter
-
CACNA1E p.Ala1955Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CACNA1E p.Ala1993Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CACNA1E p.Ala1993Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1E p.Ala2179Ser Uncertain significance Single submitter
- CACNA1E p.Ala2199Val Uncertain significance Single submitter
- CACNA1E p.Ala2222Pro Uncertain significance Single submitter
- CACNA1E p.Ala275Thr Uncertain significance Single submitter
- CACNA1E p.Ala366Val Uncertain significance Single submitter
-
CACNA1E p.Ala37Gly
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 69
- CACNA1E p.Ala385Thr Uncertain significance Single submitter
-
CACNA1E p.Ala38Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1E p.Ala47Val Uncertain significance Single submitter
- CACNA1E p.Ala573Val Uncertain significance Single submitter
-
CACNA1E p.Ala645Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1E p.Ala707Thr Uncertain significance Single submitter
- CACNA1E p.Ala709Thr Uncertain significance Single submitter
- CACNA1E p.Ala722Thr Uncertain significance Single submitter
- CACNA1E p.Ala722Val Uncertain significance Single submitter
-
CACNA1E p.Ala796Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 69
- CACNA1E p.Ala841Asp Uncertain significance Single submitter
- CACNA1E p.Ala899Glu Uncertain significance Single submitter
- CACNA1E p.Ala912Ser Uncertain significance Single submitter
- CACNA1E p.Ala912Thr Uncertain significance Single submitter
- CACNA1E p.Ala97Val Uncertain significance Single submitter
- CACNA1E p.Arg1044Gln Uncertain significance Single submitter
- CACNA1E p.Arg1121Leu Uncertain significance Single submitter
-
CACNA1E p.Arg11Met
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Arg1219Gln
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 69
- CACNA1E p.Arg123Ser Uncertain significance Single submitter
-
CACNA1E p.Arg1249Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1E p.Arg1258Gln Uncertain significance Single submitter
-
CACNA1E p.Arg1396His
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 69
- CACNA1E p.Arg1396Ser Uncertain significance Single submitter
- CACNA1E p.Arg1458Cys Uncertain significance Single submitter
- CACNA1E p.Arg157His Uncertain significance Single submitter
- CACNA1E p.Arg157Leu Uncertain significance Single submitter
- CACNA1E p.Arg1588His Uncertain significance Single submitter
- CACNA1E p.Arg1731Gln Uncertain significance Single submitter
-
CACNA1E p.Arg1731Trp
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 69
- CACNA1E p.Arg1746Cys Uncertain significance Single submitter
- CACNA1E p.Arg1814Trp Uncertain significance Single submitter
- CACNA1E p.Arg1901His Uncertain significance Single submitter
- CACNA1E p.Arg190Trp Uncertain significance Single submitter
- CACNA1E p.Arg193Cys Uncertain significance Single submitter
-
CACNA1E p.Arg2083Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1E p.Arg2117Leu Uncertain significance Single submitter
- CACNA1E p.Arg2156Ser Uncertain significance Single submitter
- CACNA1E p.Arg2157Gly Uncertain significance Single submitter
- CACNA1E p.Arg364Gln Uncertain significance Single submitter
- CACNA1E p.Arg371Gln Uncertain significance Single submitter
- CACNA1E p.Arg372Cys Uncertain significance Single submitter
-
CACNA1E p.Arg378His
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1E p.Arg466Cys Uncertain significance Single submitter
- CACNA1E p.Arg466Gly Uncertain significance Single submitter
- CACNA1E p.Arg470Gly Uncertain significance Single submitter
- CACNA1E p.Arg575Gln Uncertain significance Single submitter
- CACNA1E p.Arg575Trp Uncertain significance Single submitter
- CACNA1E p.Arg590Trp Uncertain significance Single submitter
- CACNA1E p.Arg59Leu Uncertain significance Single submitter
- CACNA1E p.Arg628Ser Uncertain significance Single submitter
- CACNA1E p.Arg769Trp Uncertain significance Single submitter
- CACNA1E p.Arg771Cys Uncertain significance Single submitter
- CACNA1E p.Arg781Cys Uncertain significance Single submitter
- CACNA1E p.Arg828Leu Uncertain significance Single submitter
- CACNA1E p.Arg863Gly Uncertain significance Single submitter
-
CACNA1E p.Arg863Leu
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 69
- CACNA1E p.Arg879Leu Uncertain significance Single submitter
- CACNA1E p.Arg886Gly Uncertain significance Single submitter
Predictors split 350
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 350
-
CACNA1E p.Ala1516Thr
Likely benign
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Ala487Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Arg1121Cys
Benign/Likely benign
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Arg1121His
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Arg1182His
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy
-
CACNA1E p.Arg1753Gln
Likely benign
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Arg1932Trp
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Arg1963Trp
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Arg2003Cys
Likely benign
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Arg2003His
Likely benign
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Arg2050Cys
Likely benign
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Arg2059Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Arg2099His
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Arg2116His
Benign/Likely benign
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Arg2117Cys
Likely benign
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Arg2120Lys
Benign/Likely benign
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Arg2156Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Arg2157Gln
Benign/Likely benign
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Arg2167Leu
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
- CACNA1E p.Arg2262His Likely benign Multiple submitters
-
CACNA1E p.Arg2284Trp
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Arg2287Lys
Uncertain significance
Multiple submitters
CACNA1E-related disorder
-
CACNA1E p.Arg444Gln
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
- CACNA1E p.Arg771His Uncertain significance Multiple submitters
-
CACNA1E p.Arg772Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Arg849His
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Arg919Gln
Benign/Likely benign
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Arg919Trp
Likely benign
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Arg922Gln
Likely benign
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Arg938Trp
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Asn1246Lys
Likely benign
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Asn1395Ser
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Asn381Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Gln41Pro
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Glu2190Lys
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Glu2209Lys
Benign/Likely benign
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Gly2281Arg
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Gly73Glu
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
- CACNA1E p.Gly854Glu Uncertain significance Multiple submitters
-
CACNA1E p.His2091Arg
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.His537Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.His754Tyr
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.His923Tyr
Benign
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Ile1168Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Ile77Met
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
- CACNA1E p.Lys1115Gln Likely benign Multiple submitters
-
CACNA1E p.Lys1314Arg
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Met1205Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CACNA1E p.Met527Ile Uncertain significance Multiple submitters
-
CACNA1E p.Ser2155Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Thr1057Met
Likely benign
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Thr1060Met
Likely benign
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Thr2208Ile
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Tyr2172Cys
Benign/Likely benign
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Val1019Met
Benign/Likely benign
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Val1077Met
Benign/Likely benign
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Val1231Ile
Likely benign
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Val1368Ile
Likely benign
Multiple submitters
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Val1701Met
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
CACNA1E p.Val615Ile
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 69
- CACNA1E p.Ala1145Thr Uncertain significance Single submitter
-
CACNA1E p.Ala1361Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 69
- CACNA1E p.Ala1450Thr Uncertain significance Single submitter
- CACNA1E p.Ala1489Ser Uncertain significance Single submitter
- CACNA1E p.Ala1754Glu Uncertain significance Single submitter
- CACNA1E p.Ala1841Val Benign Single submitter
- CACNA1E p.Ala1871Thr Uncertain significance Single submitter
- CACNA1E p.Ala250Gly Uncertain significance Single submitter
- CACNA1E p.Ala385Ser Likely benign Single submitter
-
CACNA1E p.Ala406Thr
Conflicting
Single submitter
Inborn genetic diseases
- CACNA1E p.Ala680Thr Uncertain significance Single submitter
- CACNA1E p.Arg1044Trp Likely benign Single submitter
- CACNA1E p.Arg1350His Likely benign Single submitter
-
CACNA1E p.Arg1393Cys
Conflicting
Single submitter
Inborn genetic diseases
- CACNA1E p.Arg1642Gln Uncertain significance Single submitter
- CACNA1E p.Arg1642Trp Uncertain significance Single submitter
- CACNA1E p.Arg1647Gln Likely benign Single submitter
- CACNA1E p.Arg1693Cys Uncertain significance Single submitter
- CACNA1E p.Arg1789Lys Uncertain significance Single submitter
- CACNA1E p.Arg2025Trp Uncertain significance Single submitter
- CACNA1E p.Arg2028Cys Uncertain significance Single submitter
-
CACNA1E p.Arg2050Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CACNA1E p.Arg2050Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CACNA1E p.Arg2052Gln Likely benign Single submitter
- CACNA1E p.Arg2059Gln Benign Single submitter
- CACNA1E p.Arg2064Cys Likely benign Single submitter
-
CACNA1E p.Arg2077Cys
Conflicting
Single submitter
Inborn genetic diseases
- CACNA1E p.Arg2081Ser Uncertain significance Single submitter
-
CACNA1E p.Arg2116Cys
Conflicting
Single submitter
Inborn genetic diseases
- CACNA1E p.Arg2117His Benign Single submitter
- CACNA1E p.Arg2120Gly Likely benign Single submitter
- CACNA1E p.Arg2120Trp Uncertain significance Single submitter
-
CACNA1E p.Arg2126Thr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 69
- CACNA1E p.Arg2153Lys Uncertain significance Single submitter
- CACNA1E p.Arg2156His Likely benign Single submitter
- CACNA1E p.Arg2157Trp Benign Single submitter
-
CACNA1E p.Arg2167Gln
Conflicting
Single submitter
Inborn genetic diseases
- CACNA1E p.Arg2167Gly Likely benign Single submitter
- CACNA1E p.Arg2167Trp Likely benign Single submitter
- CACNA1E p.Arg2226Cys Conflicting Single submitter
- CACNA1E p.Arg2262Cys Uncertain significance Single submitter
-
CACNA1E p.Arg2273Gln
Conflicting
Single submitter
developmental and epileptic encephalopathy, 69
- CACNA1E p.Arg2273Trp Uncertain significance Single submitter
- CACNA1E p.Arg2284Gly Uncertain significance Single submitter
-
CACNA1E p.Arg2285Trp
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Arg2286Trp
Conflicting
Single submitter
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Arg2288Cys
Conflicting
Single submitter
Inborn genetic diseases
- CACNA1E p.Arg249Gln Likely benign Single submitter
- CACNA1E p.Arg3Cys Uncertain significance Single submitter
- CACNA1E p.Arg3Leu Uncertain significance Single submitter
- CACNA1E p.Arg3Ser Uncertain significance Single submitter
-
CACNA1E p.Arg411Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CACNA1E p.Arg459Gln
Likely benign
Single submitter
Inborn genetic diseases
- CACNA1E p.Arg459Trp Uncertain significance Single submitter
- CACNA1E p.Arg533Cys Uncertain significance Single submitter
- CACNA1E p.Arg533His Uncertain significance Single submitter
- CACNA1E p.Arg668His Uncertain significance Single submitter
- CACNA1E p.Arg750Gly Likely benign Single submitter
- CACNA1E p.Arg753Gly Benign Single submitter
- CACNA1E p.Arg769Gln Uncertain significance Single submitter
- CACNA1E p.Arg828Pro Uncertain significance Single submitter
- CACNA1E p.Arg828Trp Uncertain significance Single submitter
-
CACNA1E p.Arg849Cys
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Arg852Cys
Conflicting
Single submitter
Inborn genetic diseases
-
CACNA1E p.Arg852His
Conflicting
Single submitter
developmental and epileptic encephalopathy, 69
-
CACNA1E p.Arg879Trp
Conflicting
Single submitter
Inborn genetic diseases
- CACNA1E p.Arg911Trp Likely benign Single submitter
-
CACNA1E p.Arg922Trp
Conflicting
Single submitter
Inborn genetic diseases
- CACNA1E p.Arg925Cys Likely benign Single submitter
-
CACNA1E p.Arg925Leu
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 69
- CACNA1E p.Arg946Cys Likely benign Single submitter
- CACNA1E p.Arg946His Benign Single submitter
- CACNA1E p.Asn1536Lys Uncertain significance Single submitter
- CACNA1E p.Asn2280Lys Uncertain significance Single submitter
- CACNA1E p.Asn286Ser Likely benign Single submitter
-
CACNA1E p.Asn499Lys
Conflicting
Single submitter
developmental and epileptic encephalopathy, 69
- CACNA1E p.Asn665Ser Uncertain significance Single submitter
- CACNA1E p.Asn66Ser Benign Single submitter
- CACNA1E p.Asn66Tyr Uncertain significance Single submitter
- CACNA1E p.Asn809Asp Conflicting Single submitter
- CACNA1E p.Asn812Lys Uncertain significance Single submitter
- CACNA1E p.Asp1214Gly Uncertain significance Single submitter
-
CACNA1E p.Asp1335Val
Likely pathogenic
Single submitter
developmental and epileptic encephalopathy, 69
- CACNA1E p.Asp2238Val Uncertain significance Single submitter
-
CACNA1E p.Asp2311Gly
Conflicting
Single submitter
Inborn genetic diseases
- CACNA1E p.Asp633Tyr Likely benign Single submitter
- CACNA1E p.Asp715Glu Uncertain significance Single submitter
- CACNA1E p.Cys2100Gly Uncertain significance Single submitter
- CACNA1E p.Cys2313Arg Uncertain significance Single submitter
- CACNA1E p.Gln1462Arg Uncertain significance Single submitter
All CACNA1E variants
Pathogenic 9
- p.Ala700Thr Single submitter developmental and epileptic encephalopathy
- p.Arg1219Ter Single submitter Inborn genetic diseases
- p.Arg572Ter Single submitter Inborn genetic diseases
- p.Ile1422Phe Single submitter developmental and epileptic encephalopathy
- p.Ile701Val Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Lys1314Gln Single submitter developmental and epileptic encephalopathy, 69
- p.Thr1425Asn Single submitter developmental and epileptic encephalopathy
- p.Ala702Ser No assertion criteria developmental and epileptic encephalopathy, 69
- p.Gln2220Ter No assertion criteria developmental and epileptic encephalopathy, 69
Pathogenic/Likely pathogenic 6
- p.Ala702Thr Multiple submitters developmental and epileptic encephalopathy, 69
- p.Gly348Arg Multiple submitters developmental and epileptic encephalopathy, 69
- p.Gly352Arg Multiple submitters Inborn genetic diseases
- p.Ile603Leu Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Leu228Pro Multiple submitters developmental and epileptic encephalopathy, 69
- p.Phe698Leu Multiple submitters developmental and epileptic encephalopathy, 69
Likely pathogenic 21
- p.Ala1233Thr Single submitter developmental and epileptic encephalopathy, 69
- p.Ala702Gly Single submitter Inborn genetic diseases
- p.Ala702Pro Single submitter
- p.Arg1579Pro Single submitter developmental and epileptic encephalopathy, 69
- p.Arg196Gln Single submitter
- p.Arg364Ter Single submitter developmental and epileptic encephalopathy, 69
- p.Asn1463Lys Single submitter
- p.Asn344Ser Single submitter Inborn genetic diseases
- p.Asp1076Gly Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Asp1335Val Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Glu128Lys Single submitter
- p.Gly276Asp Single submitter ⚠
- p.Gly352Glu Single submitter developmental and epileptic encephalopathy, 69
- p.Gly690Val Single submitter
- p.Ile1423Thr Single submitter Inborn genetic diseases
- p.Ile1423Val Single submitter developmental and epileptic encephalopathy, 69
- p.Ile603_Ile604delinsArgGlu Single submitter
- p.Leu221Val Single submitter
- p.Phe698Ser Single submitter Inborn genetic diseases
- p.Ser213Cys Single submitter
- p.Thr301fs Single submitter developmental and epileptic encephalopathy, 69
Conflicting classifications of pathogenicity 104
- c.3423-4G>A Single submitter
- c.3719+6T>A Single submitter
- c.4606-3C>T Single submitter Inborn genetic diseases
- c.4689+5A>G Single submitter Inborn genetic diseases
- c.5267+5G>A Single submitter
- c.5898+6T>G Single submitter
- p.Ala1126Ser Single submitter Inborn genetic diseases ⚠
- p.Ala1164Val Single submitter Inborn genetic diseases ⚠
- p.Ala1169Thr Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Ala1581Ser Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Ala2222Thr Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Ala2269Asp Single submitter ⚠
- p.Ala406Thr Single submitter Inborn genetic diseases ⚠
- p.Ala702Val Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Ala802Val Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Arg1153Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1182Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1393Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1396Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1539Ter Single submitter ⚠
- p.Arg196Trp Single submitter ⚠
- p.Arg2025Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2028His Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Arg2041Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2077Cys Single submitter Inborn genetic diseases ⚠
- p.Arg2116Cys Single submitter Inborn genetic diseases ⚠
- p.Arg2167Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2226Cys Single submitter ⚠
- p.Arg2273Gln Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Arg2285Gln Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Arg2285Trp Single submitter Inborn genetic diseases ⚠
- p.Arg2286Trp Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Arg2288Cys Single submitter Inborn genetic diseases ⚠
- p.Arg59Gln Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Arg762Cys Single submitter Inborn genetic diseases ⚠
- p.Arg849Cys Single submitter Inborn genetic diseases ⚠
- p.Arg849Ser Single submitter ⚠
- p.Arg852Cys Single submitter Inborn genetic diseases ⚠
- p.Arg852His Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Arg879Trp Single submitter Inborn genetic diseases ⚠
- p.Arg920His Single submitter ⚠
- p.Arg922Trp Single submitter Inborn genetic diseases ⚠
- p.Arg924Cys Single submitter ⚠
- p.Arg925His Single submitter Inborn genetic diseases ⚠
- p.Arg927Gly Single submitter Inborn genetic diseases ⚠
- p.Asn2302Ser Single submitter ⚠
- p.Asn499Lys Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Asn742Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn809Asp Single submitter ⚠
- p.Asn809Ser Single submitter Inborn genetic diseases ⚠
- p.Asp1078Gly Single submitter ⚠
- p.Asp1697Asn Single submitter Inborn genetic diseases ⚠
- p.Asp2187Asn Single submitter Inborn genetic diseases ⚠
- p.Asp2311Gly Single submitter Inborn genetic diseases ⚠
- p.Gln1909Arg Single submitter Inborn genetic diseases ⚠
- p.Gln1909His Single submitter Inborn genetic diseases ⚠
- p.Glu2247= Single submitter
- p.Glu2248del Single submitter Inborn genetic diseases
- p.Gly1430Arg Single submitter Inborn genetic diseases ⚠
- p.Gly17Glu Single submitter Inborn genetic diseases ⚠
- p.Gly1824Ser Single submitter ⚠
- p.Gly1931Ser Single submitter ⚠
- p.His1018Gln Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.His774del Single submitter Inborn genetic diseases
- p.Ile104= Single submitter
- p.Ile1088Val Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Ile1593Val Single submitter ⚠
- p.Leu124= Single submitter
- p.Leu1564= Single submitter
- p.Leu1775= Single submitter
- p.Leu1921Arg Single submitter ⚠
- p.Leu820= Single submitter
- p.Leu840_Glu843del Single submitter
- p.Lys1115del Single submitter CACNA1E-related disorder
- p.Lys1676Arg Single submitter Inborn genetic diseases ⚠
- p.Lys726Ile Single submitter ⚠
- p.Met1042Thr Single submitter Inborn genetic diseases ⚠
- p.Met1795Ile Single submitter Inborn genetic diseases ⚠
- p.Met1898Ile Single submitter Inborn genetic diseases ⚠
- p.Met791Thr Single submitter Inborn genetic diseases ⚠
- p.Pro1011Leu Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Pro1079Ser Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Pro2214Leu Single submitter ⚠
- p.Pro813Leu Single submitter Inborn genetic diseases ⚠
- p.Pro89Ser Single submitter ⚠
- p.Ser1522Phe Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Ser19Leu Single submitter Inborn genetic diseases ⚠
- p.Ser2032Leu Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Ser2145Phe Single submitter Inborn genetic diseases ⚠
- p.Ser2174Phe Single submitter Inborn genetic diseases ⚠
- p.Ser2202Asn Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Ser937Phe Single submitter Inborn genetic diseases ⚠
- p.Ser947Gly Single submitter Inborn genetic diseases ⚠
- p.Thr1004Asn Single submitter Inborn genetic diseases ⚠
- p.Thr1505Ser Single submitter Inborn genetic diseases ⚠
- p.Thr1682Ser Single submitter ⚠
- p.Thr2023Ser Single submitter Inborn genetic diseases ⚠
- p.Thr2075Ala Single submitter Inborn genetic diseases ⚠
- p.Thr64Ala Single submitter Inborn genetic diseases ⚠
- p.Tyr81His Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Val1085Met Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Val162Asp Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Val1883Leu Single submitter Inborn genetic diseases ⚠
- p.Val2010Met Single submitter Inborn genetic diseases ⚠
Benign 272
- c.1055+120G>C Multiple submitters
- c.1056-8G>A Multiple submitters developmental and epileptic encephalopathy, 69
- c.1171+13G>A Multiple submitters developmental and epileptic encephalopathy, 69
- c.1225+78A>G Multiple submitters developmental and epileptic encephalopathy, 69
- c.1315+12C>G Multiple submitters developmental and epileptic encephalopathy, 69
- c.1315+168A>T Multiple submitters
- c.1316-13T>C Multiple submitters developmental and epileptic encephalopathy, 69
- c.1638+10C>A Multiple submitters developmental and epileptic encephalopathy, 69
- c.1638+45T>C Multiple submitters
- c.1639-19G>A Multiple submitters developmental and epileptic encephalopathy, 69
- c.1751+113C>T Multiple submitters
- c.1956+47G>A Multiple submitters
- c.1957-149A>T Multiple submitters
- c.2075-287C>T Multiple submitters
- c.2143-113T>G Multiple submitters
- c.2143-131T>C Multiple submitters
- c.2298-97C>T Multiple submitters developmental and epileptic encephalopathy, 69
- c.2949-79G>A Multiple submitters
- c.3263-13G>A Multiple submitters developmental and epileptic encephalopathy, 69
- c.3263-15G>A Multiple submitters developmental and epileptic encephalopathy, 69
- c.3613-115A>G Multiple submitters
- c.373-85C>T Multiple submitters
- c.3731+56C>T Multiple submitters developmental and epileptic encephalopathy, 69
- c.3732-14C>T Multiple submitters developmental and epileptic encephalopathy, 69
- c.3989+16G>A Multiple submitters developmental and epileptic encephalopathy, 69
- c.4329+151G>A Multiple submitters
- c.4330-53A>T Multiple submitters
- c.4494+26G>A Multiple submitters
- c.4606-37C>A Multiple submitters
- c.4606-43T>C Multiple submitters
- c.4815+28A>G Multiple submitters
- c.4973+223A>G Multiple submitters
- c.5139+66C>A Multiple submitters
- c.5140-12del Multiple submitters developmental and epileptic encephalopathy, 69
- c.5267+20G>A Multiple submitters developmental and epileptic encephalopathy, 69
- c.5267+216G>A Multiple submitters
- c.5268-94G>T Multiple submitters
- c.5365-101C>T Multiple submitters
- c.5365-32T>G Multiple submitters
- c.5365-80C>T Multiple submitters
- c.5470+11_5470+15del Multiple submitters developmental and epileptic encephalopathy, 69
- c.5579-140G>C Multiple submitters
- c.5679+10A>C Multiple submitters developmental and epileptic encephalopathy, 69
- c.5680-46C>T Multiple submitters
- c.5787-108T>A Multiple submitters
- c.5787-17T>C Multiple submitters developmental and epileptic encephalopathy, 69
- c.5898+10T>C Multiple submitters developmental and epileptic encephalopathy, 69
- c.5898+197A>G Multiple submitters
- c.5899-41G>A Multiple submitters
- c.6208+58C>G Multiple submitters
- c.6399+89C>T Multiple submitters
- c.770-184T>G Multiple submitters
- c.*216T>C Multiple submitters
- p.Ala1955Thr Multiple submitters developmental and epileptic encephalopathy, 69
- p.Ala250= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Asn1691= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Asn708= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Asp1061Glu Multiple submitters developmental and epileptic encephalopathy
- p.Asp859Glu Multiple submitters developmental and epileptic encephalopathy, 69
- p.Cys1951= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Gln1429= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Gln1948= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Gln271= Multiple submitters developmental and epileptic encephalopathy, 69
- p.His1336= Multiple submitters developmental and epileptic encephalopathy, 69
- p.His923Tyr Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Ile1149= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Leu1363= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Leu1670= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Ser2189= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Thr1004= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Thr1060= Multiple submitters
- p.Thr318= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Tyr1751= Multiple submitters
- p.Val1404= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Val167= Multiple submitters developmental and epileptic encephalopathy, 69
- c.1055+12G>A Single submitter
- c.1055+31A>T Single submitter
- c.1056-6C>T Single submitter
- c.1171+14dup Single submitter
- c.1172-4A>G Single submitter
- c.1225+262= Single submitter
- c.1226-289A>T Single submitter
- c.1315+166_1315+167insA Single submitter
- c.1315+183del Single submitter
- c.1315+183dup Single submitter
- c.1525+255C>T Single submitter
- c.1638+9_1638+10delinsCT Single submitter
- c.1884-114del Single submitter
- c.1884-44T>G Single submitter
- c.1957-12T>G Single submitter
- c.1957-131del Single submitter
- c.2074+11del Single submitter
- c.2142+249A>G Single submitter
- c.2297+12C>G Single submitter
- c.2297+47G>A Single submitter
- c.2297+9G>A Single submitter
- c.2298-38T>C Single submitter
- c.2949-3C>T Single submitter
- c.3262+38C>T Single submitter
- c.3263-31T>C Single submitter
- c.3422+212A>T Single submitter
- c.3422+51G>C Single submitter
- c.3423-109G>A Single submitter
- c.3423-121C>T Single submitter
- c.3552+36T>C Single submitter
- c.3719+9C>G Single submitter
- c.372+12C>A Single submitter
- c.372+14del Single submitter
- c.372+188G>A Single submitter
- c.3720-37T>C Single submitter
- c.373-324C>T Single submitter
- c.3732-101A>G Single submitter
- c.3732-15dup Single submitter
- c.3828+43A>G Single submitter
- c.3829-164A>G Single submitter
- c.3829-202G>A Single submitter
- c.4329+4del Single submitter
- c.4495-233G>C Single submitter
- c.4495-26T>C Single submitter
- c.4495-301T>C Single submitter
- c.4605+21C>T Single submitter
- c.4606-29A>T Single submitter
- c.4606-42dup Single submitter
- c.4690-24A>G Single submitter
- c.4815+217T>C Single submitter
- c.4881+24G>A Single submitter
- c.4882-228T>C Single submitter
- c.4973+41T>C Single submitter
- c.4973+5C>G Single submitter
- c.4974-278A>G Single submitter
- c.513-235C>A Single submitter
- c.513-236A>C Single submitter
- c.5268-1936G>A Single submitter
- c.5364+273T>C Single submitter
- c.5365-200ACA[5] Single submitter
- c.5365-25T>G Single submitter
- c.5365-286A>T Single submitter
- c.5365-31dup Single submitter
- c.5365-32del Single submitter
- c.5365-32dup Single submitter
- c.5470+110T>C Single submitter
- c.5470+23G>C Single submitter
- c.5578+155A>C Single submitter
- c.5578+6G>T Single submitter
- c.5680-46C>A Single submitter
- c.5787-136dup Single submitter
- c.5787-138_5787-137insTA Single submitter
- c.5787-138_5787-137insTTA Single submitter
- c.5787-138dup Single submitter
- c.5787-164C>G Single submitter
- c.5787-329C>T Single submitter
- c.5898+31T>A Single submitter
- c.6027+20A>G Single submitter
- c.6027+27C>G Single submitter
- c.6027+37C>T Single submitter
- c.6027+43G>A Single submitter
- c.6028-28G>A Single submitter
- c.6028-36C>A Single submitter
- c.6028-44C>T Single submitter
- c.616+293A>G Single submitter
- c.617-3T>C Single submitter
- c.6399+6C>T Single submitter
- c.6399+7G>A Single submitter
- c.6400-22C>T Single submitter
- c.770-47G>A Single submitter
- c.952-260T>C Single submitter
- c.*13C>A Single submitter
- p.Ala1240= Single submitter
- p.Ala1277= Single submitter
- p.Ala1684Thr Single submitter
- p.Ala1841Val Single submitter ⚠
- p.Ala2062Pro Single submitter
- p.Ala2241Val Single submitter
- p.Ala722Gly Single submitter
- p.Ala802Glu Single submitter
- p.Ala866Thr Single submitter
- p.Ala885Thr Single submitter
- p.Ala899Ser Single submitter
- p.Ala951Thr Single submitter
- p.Ala996Val Single submitter
- p.Arg1105Gly Single submitter
- p.Arg157Cys Single submitter
- p.Arg1746= Single submitter
- p.Arg1963Gln Single submitter
- p.Arg2019Cys Single submitter
- p.Arg2052Trp Single submitter
- p.Arg2059Gln Single submitter ⚠
- p.Arg2064His Single submitter
- p.Arg2117His Single submitter ⚠
- p.Arg2157Trp Single submitter ⚠
- p.Arg25= Single submitter
- p.Arg371Trp Single submitter
- p.Arg48Gln Single submitter
- p.Arg750Thr Single submitter
- p.Arg753Gly Single submitter ⚠
- p.Arg829Gln Single submitter
- p.Arg911Pro Single submitter
- p.Arg920Cys Single submitter
- p.Arg938Gln Single submitter
- p.Arg946His Single submitter ⚠
- p.Arg963Ser Single submitter
- p.Asn1689= Single submitter
- p.Asn1689Lys Single submitter developmental and epileptic encephalopathy, 14
- p.Asn1691Ser Single submitter
- p.Asn61= Single submitter
- p.Asn66Ser Single submitter ⚠
- p.Asn798Lys Single submitter
- p.Asn821Ser Single submitter
- p.Asp1956Asn Single submitter
- p.Cys1756= Single submitter
- p.Cys432Tyr Single submitter
- p.Gln1024Arg Single submitter
- p.Gln1468= Single submitter
- p.Gln1888Arg Single submitter
- p.Gln2133Pro Single submitter
- p.Gln870Lys Single submitter
- p.Glu1001Lys Single submitter
- p.Glu1025Lys Single submitter
- p.Glu846Lys Single submitter
- p.Gly1195= Single submitter
- p.Gly1928Asp Single submitter
- p.Gly1958Arg Single submitter
- p.Gly2245Val Single submitter ⚠
- p.Gly2292Glu Single submitter
- p.Gly323= Single submitter
- p.Gly517Val Single submitter ⚠
- p.Gly854Arg Single submitter
- p.Gly900Ala Single submitter
- p.Gly994Val Single submitter
- p.His2071Arg Single submitter
- p.His2274Tyr Single submitter ⚠
- p.Ile2143Thr Single submitter
- p.Ile2176Ser Single submitter
- p.Ile2228Leu Single submitter
- p.Ile469Val Single submitter
- p.Ile582Val Single submitter
- p.Ile746= Single submitter
- p.Leu1741= Single submitter
- p.Leu2065Val Single submitter
- p.Leu315= Single submitter
- p.Leu826Arg Single submitter
- p.Leu874Phe Single submitter ⚠
- p.Lys1859Arg Single submitter
- p.Lys1916Ile Single submitter ⚠
- p.Met791Val Single submitter
- p.Pro1897Ser Single submitter ⚠
- p.Pro1943Ser Single submitter
- p.Pro1954= Single submitter
- p.Pro57Leu Single submitter
- p.Pro953= Single submitter
- p.Pro953Leu Single submitter
- p.Ser1029Asn Single submitter ⚠
- p.Ser1942Pro Single submitter
- p.Ser2145Pro Single submitter ⚠
- p.Ser2171Cys Single submitter ⚠
- p.Ser2193Phe Single submitter ⚠
- p.Ser484Ile Single submitter
- p.Ser524Thr Single submitter
- p.Ser637Leu Single submitter ⚠
- p.Ser815_Leu820del Single submitter
- p.Thr1004Ser Single submitter
- p.Thr1022= Single submitter
- p.Thr1092Met Single submitter
- p.Thr1284Asn Single submitter
- p.Thr1683= Single submitter
- p.Thr1802Ser Single submitter ⚠
- p.Thr804Ala Single submitter
- p.Thr804Ile Single submitter
- p.Val1471Met Single submitter ⚠
- p.Val1493Ile Single submitter
- p.Val1926Ile Single submitter
- p.Val433Ile Single submitter
Benign/Likely benign 91
- c.1883+9C>G Multiple submitters developmental and epileptic encephalopathy, 69
- c.1956+19G>A Multiple submitters developmental and epileptic encephalopathy, 69
- c.2298-16C>T Multiple submitters developmental and epileptic encephalopathy, 69
- c.3263-16C>T Multiple submitters developmental and epileptic encephalopathy, 69
- c.373-14C>T Multiple submitters developmental and epileptic encephalopathy, 69
- c.4329+14G>A Multiple submitters developmental and epileptic encephalopathy, 69
- c.4605+12A>C Multiple submitters developmental and epileptic encephalopathy, 69
- c.4606-7T>C Multiple submitters developmental and epileptic encephalopathy, 69
- c.4816-3C>T Multiple submitters developmental and epileptic encephalopathy, 69
- c.4882-6_4882-4del Multiple submitters developmental and epileptic encephalopathy, 69
- c.6399+3G>A Multiple submitters developmental and epileptic encephalopathy, 69
- p.835GLAL[1] Multiple submitters developmental and epileptic encephalopathy, 69
- p.Ala10Ser Multiple submitters Inborn genetic diseases
- p.Ala1516= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Ala2109Pro Multiple submitters Inborn genetic diseases
- p.Ala2179= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Ala2179Val Multiple submitters developmental and epileptic encephalopathy, 69
- p.Ala2241Thr Multiple submitters developmental and epileptic encephalopathy, 69
- p.Ala396Thr Multiple submitters Inborn genetic diseases
- p.Ala450Ser Multiple submitters Inborn genetic diseases
- p.Ala645= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Arg1121Cys Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Arg1121His Multiple submitters Inborn genetic diseases ⚠
- p.Arg1901Cys Multiple submitters Inborn genetic diseases
- p.Arg1932Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg1963Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg1997Met Multiple submitters developmental and epileptic encephalopathy, 69
- p.Arg2019His Multiple submitters Inborn genetic diseases
- p.Arg2116His Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Arg2120Lys Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Arg2157Gln Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Arg2177Gln Multiple submitters developmental and epileptic encephalopathy, 69
- p.Arg2284Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg2286Gln Multiple submitters developmental and epileptic encephalopathy, 69
- p.Arg444Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg831Thr Multiple submitters developmental and epileptic encephalopathy, 69
- p.Arg849His Multiple submitters Inborn genetic diseases ⚠
- p.Arg863Gln Multiple submitters developmental and epileptic encephalopathy, 69
- p.Arg919Gln Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Arg938Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asn1241= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Asn2204Asp Multiple submitters Inborn genetic diseases
- p.Asp1635= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Asp959Ala Multiple submitters Inborn genetic diseases
- p.Gln1048Arg Multiple submitters Inborn genetic diseases
- p.Gln373= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Gln41Pro Multiple submitters Inborn genetic diseases ⚠
- p.Glu1181= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Glu1328Asp Multiple submitters Inborn genetic diseases
- p.Glu2190Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu2209Lys Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Gly177Glu Multiple submitters Inborn genetic diseases
- p.Gly2281Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly998Ser Multiple submitters developmental and epileptic encephalopathy, 69
- p.His754Tyr Multiple submitters Inborn genetic diseases ⚠
- p.His889Asp Multiple submitters Inborn genetic diseases
- p.His923Arg Multiple submitters Inborn genetic diseases
- p.Ile1515= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Leu766= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Met2278Val Multiple submitters developmental and epileptic encephalopathy, 69
- p.Met523Ile Multiple submitters developmental and epileptic encephalopathy, 69
- p.Phe1279= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Phe1578= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Phe341= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Pro1904Leu Multiple submitters developmental and epileptic encephalopathy, 69
- p.Pro1904Thr Multiple submitters developmental and epileptic encephalopathy, 69
- p.Pro1940= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Pro2293Leu Multiple submitters Inborn genetic diseases
- p.Pro31Leu Multiple submitters Inborn genetic diseases
- p.Pro803Leu Multiple submitters Inborn genetic diseases
- p.Pro824Ser Multiple submitters developmental and epileptic encephalopathy, 69
- p.Pro894Leu Multiple submitters developmental and epileptic encephalopathy, 69
- p.Ser1049= Multiple submitters
- p.Ser1069= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Ser1180Leu Multiple submitters Inborn genetic diseases
- p.Ser19= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Ser351= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Ser405= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Ser436= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Ser776= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Thr1022Met Multiple submitters developmental and epileptic encephalopathy, 69
- p.Thr2208Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr2307Met Multiple submitters Inborn genetic diseases
- p.Tyr2172Cys Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Val1019Met Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Val1077Met Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Val1701Met Multiple submitters Inborn genetic diseases ⚠
- p.Val1747Ile Multiple submitters developmental and epileptic encephalopathy, 69
- p.Val1883Met Multiple submitters Inborn genetic diseases
- p.Val926Ile Multiple submitters developmental and epileptic encephalopathy, 69
- p.Val989= Multiple submitters developmental and epileptic encephalopathy, 69
Likely benign 1145
Showing the top 300 by review status; the full set is in the sitemap.
- c.1056-62C>T Multiple submitters
- c.1316-50G>A Multiple submitters
- c.1639-84G>C Multiple submitters
- c.1956+165A>T Multiple submitters
- c.1956+193T>C Multiple submitters
- c.1957-184T>C Multiple submitters
- c.1957-23C>T Multiple submitters
- c.2297+122T>C Multiple submitters
- c.2297+38C>T Multiple submitters
- c.3553-93G>A Multiple submitters
- c.3719+143C>G Multiple submitters
- c.3719+198C>T Multiple submitters
- c.372+8A>G Multiple submitters
- c.373-150G>A Multiple submitters
- c.3731+13G>A Multiple submitters developmental and epileptic encephalopathy, 69
- c.3731+73G>C Multiple submitters
- c.3732-263C>T Multiple submitters
- c.3828+68C>T Multiple submitters
- c.3989+15C>T Multiple submitters
- c.4689+147A>G Multiple submitters
- c.4816-19A>T Multiple submitters
- c.4816-30A>G Multiple submitters
- c.4816-70G>C Multiple submitters
- c.5787-123C>G Multiple submitters
- c.5787-138T>A Multiple submitters
- c.6027+86G>A Multiple submitters
- c.617-16C>T Multiple submitters developmental and epileptic encephalopathy, 69
- c.6209-135G>T Multiple submitters
- c.769+142C>G Multiple submitters
- c.770-100G>C Multiple submitters
- p.Ala1063Pro Multiple submitters Inborn genetic diseases
- p.Ala1242Thr Multiple submitters Inborn genetic diseases
- p.Ala1516Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala82= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Arg122Gln Multiple submitters Inborn genetic diseases
- p.Arg1753Gln Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Arg1932Gln Multiple submitters developmental and epileptic encephalopathy, 69
- p.Arg2003Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg2003His Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Arg2050Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg2077His Multiple submitters Inborn genetic diseases
- p.Arg2117Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg2262His Multiple submitters ⚠
- p.Arg2284Gln Multiple submitters Inborn genetic diseases
- p.Arg2288= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Arg2288His Multiple submitters
- p.Arg371= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Arg419Gln Multiple submitters developmental and epileptic encephalopathy, 69
- p.Arg425Pro Multiple submitters developmental and epileptic encephalopathy, 69
- p.Arg828Gln Multiple submitters
- p.Arg879Gln Multiple submitters Inborn genetic diseases
- p.Arg919= Multiple submitters
- p.Arg919Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg922Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg924His Multiple submitters Inborn genetic diseases
- p.Asn1090= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Asn1246Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn2204Ser Multiple submitters Inborn genetic diseases
- p.Asn665Asp Multiple submitters Inborn genetic diseases
- p.Asn869Asp Multiple submitters Inborn genetic diseases
- p.Asp1383= Multiple submitters
- p.Asp1800Asn Multiple submitters Inborn genetic diseases
- p.Glu1109= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Glu2040= Multiple submitters
- p.Glu2191Gln Multiple submitters Inborn genetic diseases
- p.Glu2308Gln Multiple submitters developmental and epileptic encephalopathy, 69
- p.Gly1232= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Gly288= Multiple submitters
- p.Gly403Ala Multiple submitters Inborn genetic diseases
- p.Gly853Arg Multiple submitters Inborn genetic diseases
- p.Gly890= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Gly994Arg Multiple submitters developmental and epileptic encephalopathy, 69
- p.His1087Asp Multiple submitters Inborn genetic diseases
- p.His183= Multiple submitters developmental and epileptic encephalopathy, 69
- p.His2063Tyr Multiple submitters developmental and epileptic encephalopathy
- p.His2076= Multiple submitters developmental and epileptic encephalopathy, 69
- p.His2178Leu Multiple submitters Inborn genetic diseases
- p.Ile166= Multiple submitters
- p.Ile1842Val Multiple submitters developmental and epileptic encephalopathy, 69
- p.Ile283= Multiple submitters
- p.Leu108= Multiple submitters
- p.Leu1099Met Multiple submitters Inborn genetic diseases
- p.Leu610= Multiple submitters
- p.Lys1115Gln Multiple submitters ⚠
- p.Met1042Val Multiple submitters Inborn genetic diseases
- p.Met1519Val Multiple submitters Inborn genetic diseases
- p.Met1572Leu Multiple submitters developmental and epileptic encephalopathy, 69
- p.Met1938Val Multiple submitters Inborn genetic diseases
- p.Met1952Thr Multiple submitters developmental and epileptic encephalopathy, 69
- p.Pro1005= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Pro2161= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Pro2185= Multiple submitters
- p.Pro2185Ser Multiple submitters Inborn genetic diseases
- p.Pro807= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Ser1030Arg Multiple submitters Inborn genetic diseases
- p.Ser1047= Multiple submitters
- p.Ser1180= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Ser1603= Multiple submitters Inborn genetic diseases
- p.Ser2032= Multiple submitters Inborn genetic diseases
- p.Ser213= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Ser68= Multiple submitters
- p.Thr1057= Multiple submitters
- p.Thr1057Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr1060Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr1092= Multiple submitters
- p.Thr1541= Multiple submitters
- p.Thr2012Arg Multiple submitters Inborn genetic diseases
- p.Tyr2172= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Val1070Ile Multiple submitters Inborn genetic diseases
- p.Val1231Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val1368Ile Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Val477= Multiple submitters
- c.1055+17T>C Single submitter
- c.1055+7C>T Single submitter
- c.1055+9G>A Single submitter
- c.1055+9G>T Single submitter
- c.1056-11C>G Single submitter
- c.1056-12T>G Single submitter
- c.1056-14C>A Single submitter
- c.1056-14C>T Single submitter
- c.1056-17A>G Single submitter
- c.1056-18T>A Single submitter
- c.1056-51T>C Single submitter
- c.1171+14G>A Single submitter
- c.1171+15C>T Single submitter
- c.1171+9G>A Single submitter
- c.1171+9G>C Single submitter
- c.1172-12G>A Single submitter
- c.1172-16A>G Single submitter
- c.1172-60A>C Single submitter
- c.1225+11G>A Single submitter
- c.1226-10C>G Single submitter
- c.1226-17C>G Single submitter
- c.1226-4G>A Single submitter
- c.1226-4G>T Single submitter
- c.1315+11C>T Single submitter
- c.1315+13A>C Single submitter
- c.1315+15T>A Single submitter
- c.1315+17A>G Single submitter
- c.1315+18G>C Single submitter
- c.1315+18G>T Single submitter
- c.1315+194A>G Single submitter
- c.1316-10T>C Single submitter
- c.1525+106A>G Single submitter
- c.1525+148G>T Single submitter
- c.1525+14C>T Single submitter
- c.1525+15_1525+27del Single submitter
- c.1525+18C>T Single submitter
- c.1525+243G>A Single submitter
- c.1525+7A>G Single submitter
- c.1526-13T>G Single submitter
- c.1526-210G>T Single submitter
- c.1526-242A>G Single submitter
- c.1526-7C>T Single submitter
- c.1638+10C>T Single submitter
- c.1638+114C>A Single submitter
- c.1638+11G>A Single submitter
- c.1638+13A>G Single submitter
- c.1638+15G>T Single submitter
- c.1638+171G>C Single submitter
- c.1638+248C>T Single submitter
- c.1638+254T>A Single submitter
- c.1638+8C>T Single submitter
- c.1639-10G>A Single submitter
- c.1639-172A>G Single submitter
- c.1639-334G>A Single submitter
- c.1639-4C>G Single submitter
- c.1639-7T>C Single submitter
- c.1751+10C>A Single submitter
- c.1751+19del Single submitter
- c.1751+19G>A Single submitter
- c.1752-12T>G Single submitter
- c.1752-15G>A Single submitter
- c.1752-18A>G Single submitter
- c.1752-18A>T Single submitter
- c.1883+11A>C Single submitter
- c.1883+16C>A Single submitter
- c.1883+18T>C Single submitter
- c.1883+47C>G Single submitter
- c.1883+8C>T Single submitter
- c.1884-12T>C Single submitter
- c.1884-13T>C Single submitter
- c.1884-16T>C Single submitter
- c.1884-4T>C Single submitter
- c.1884-9G>A Single submitter
- c.1956+13C>T Single submitter
- c.1956+16A>G Single submitter
- c.1956+17C>T Single submitter
- c.1956+18G>A Single submitter
- c.1956+293T>G Single submitter
- c.1956+8G>A Single submitter
- c.1957-18G>A Single submitter
- c.1957-5dup Single submitter
- c.2074+108G>A Single submitter
- c.2074+114A>C Single submitter
- c.2074+11T>C Single submitter
- c.2074+12A>G Single submitter
- c.2074+143T>G Single submitter
- c.2074+77G>A Single submitter
- c.2075-220G>T Single submitter
- c.2075-4C>G Single submitter
- c.2075-7A>G Single submitter
- c.2142+11T>C Single submitter
- c.2142+15C>T Single submitter
- c.2142+19G>A Single submitter
- c.2142+20G>A Single submitter
- c.2142+3A>G Single submitter
- c.2143-13G>A Single submitter
- c.2143-15C>T Single submitter
- c.2143-6G>A Single submitter
- c.2143-7T>C Single submitter
- c.2240+18T>C Single submitter
- c.2240+18T>G Single submitter
- c.2240+7C>T Single submitter
- c.2240+8A>T Single submitter
- c.2241-15A>G Single submitter
- c.2241-18T>C Single submitter
- c.2297+13C>A Single submitter
- c.2297+13C>T Single submitter
- c.2297+20C>T Single submitter
- c.2297+21G>A Single submitter
- c.2298-15C>T Single submitter
- c.2298-16C>G Single submitter
- c.2298-4G>T Single submitter
- c.2298-7T>C Single submitter
- c.2298-8_2298-6del Single submitter
- c.2298-9C>T Single submitter
- c.266+11T>C Single submitter
- c.266+16C>T Single submitter
- c.266+19C>A Single submitter
- c.266+19C>T Single submitter
- c.266+20A>G Single submitter
- c.267-10G>A Single submitter
- c.267-10G>T Single submitter
- c.267-11C>T Single submitter
- c.267-125A>C Single submitter
- c.267-16A>C Single submitter
- c.267-18T>G Single submitter
- c.267-6T>G Single submitter
- c.267-7T>A Single submitter
- c.2948+14A>G Single submitter
- c.2948+160G>T Single submitter
- c.2948+19T>C Single submitter
- c.2949-10C>T Single submitter
- c.2949-14_2949-5del Single submitter
- c.2949-14C>G Single submitter
- c.2949-14CT[3] Single submitter
- c.2949-17T>C Single submitter
- c.2949-18C>G Single submitter
- c.2949-8C>G Single submitter
- c.3262+11A>G Single submitter
- c.3262+12G>A Single submitter
- c.3262+15C>T Single submitter
- c.3262+18G>A Single submitter
- c.3262+20T>C Single submitter
- c.3262+7G>A Single submitter
- c.3263-10C>T Single submitter
- c.3263-12T>A Single submitter
- c.3263-19C>T Single submitter
- c.3263-9C>G Single submitter
- c.3263-9C>T Single submitter
- c.3422+10C>T Single submitter
- c.3422+13C>G Single submitter
- c.3422+13C>T Single submitter
- c.3422+14G>A Single submitter
- c.3422+15C>T Single submitter
- c.3422+16G>A Single submitter
- c.3422+7C>G Single submitter
- c.3423-10C>T Single submitter
- c.3423-11A>G Single submitter
- c.3423-13C>T Single submitter
- c.3423-15G>A Single submitter
- c.3423-17A>G Single submitter
- c.3423-22C>A Single submitter
- c.3423-4G>C Single submitter
- c.3423-4G>T Single submitter
- c.3423-5C>T Single submitter
- c.3423-5del Single submitter
- c.3423-9T>G Single submitter
- c.3552+11A>C Single submitter
- c.3552+11A>G Single submitter
- c.3552+15G>A Single submitter
- c.3552+17C>G Single submitter
- c.3552+242A>G Single submitter
- c.3552+255T>C Single submitter
- c.3552+4G>A Single submitter
- c.3552+7A>G Single submitter
- c.3553-15A>G Single submitter
- c.3553-17C>T Single submitter
- c.3553-18A>C Single submitter
- c.3553-9G>A Single submitter
- c.3612+12T>C Single submitter
- c.3612+7A>C Single submitter
- c.3613-18G>A Single submitter
- c.3613-4G>T Single submitter
- c.3613-86G>A Single submitter
- c.3613-9C>T Single submitter
- c.3719+12_3719+16del Single submitter
- c.3719+14_3719+15del Single submitter
- c.3719+14T>G Single submitter
Uncertain significance 812
Showing the top 300 by review status; the full set is in the sitemap.
- c.3719+1G>A Multiple submitters developmental and epileptic encephalopathy, 69
- p.Ala1033Thr Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Ala1171Val Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Ala487Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala740Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala912Gly Multiple submitters ⚠
- p.Ala936Val Multiple submitters ⚠
- p.Arg1182His Multiple submitters developmental and epileptic encephalopathy ⚠
- p.Arg122Ter Multiple submitters developmental and epileptic encephalopathy, 69
- p.Arg1261Gln Multiple submitters ⚠
- p.Arg1389Ter Multiple submitters developmental and epileptic encephalopathy, 69
- p.Arg1758Cys Multiple submitters ⚠
- p.Arg1887Lys Multiple submitters ⚠
- p.Arg2059Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg2083Gln Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Arg2099His Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Arg2154Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg2156Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg2167Leu Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Arg2287Lys Multiple submitters CACNA1E-related disorder ⚠
- p.Arg411Ter Multiple submitters developmental and epileptic encephalopathy, 69
- p.Arg419Trp Multiple submitters ⚠
- p.Arg466His Multiple submitters ⚠
- p.Arg59Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg668Cys Multiple submitters ⚠
- p.Arg771His Multiple submitters ⚠
- p.Arg772Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg772Trp Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Arg940Ser Multiple submitters ⚠
- p.Asn1395Ser Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Asn1536= Multiple submitters developmental and epileptic encephalopathy, 69
- p.Asn2301Asp Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Asn255His Multiple submitters ⚠
- p.Asn381Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp1076Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp1280Asn Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Asp18Gly Multiple submitters ⚠
- p.Asp862Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys492Ser Multiple submitters ⚠
- p.Gln2128Lys Multiple submitters genetic developmental and epileptic encephalopathy ⚠
- p.Gln784Arg Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Gln790Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu760Lys Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Gly2192Arg Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Gly225Asp Multiple submitters ⚠
- p.Gly2267Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly2289Arg Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Gly73Glu Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Gly854Glu Multiple submitters ⚠
- p.Gly902Glu Multiple submitters ⚠
- p.His2091Arg Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.His2215Gln Multiple submitters Inborn genetic diseases ⚠
- p.His537Tyr Multiple submitters Inborn genetic diseases ⚠
- p.His765Arg Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Ile1149Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile1168Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile1946Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile77Met Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Leu1918Gln Multiple submitters ⚠
- p.Leu52Phe Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Leu607Arg Multiple submitters ⚠
- p.Lys1100Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys1314Arg Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Met1042Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met1205Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met1497Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met1519Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met163Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met1810Thr Multiple submitters ⚠
- p.Met527Ile Multiple submitters ⚠
- p.Phe566Leu Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Pro1478Leu Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Pro2114Leu Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Pro2144Leu Multiple submitters genetic developmental and epileptic encephalopathy ⚠
- p.Ser1089Asn Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Ser1438Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser1652Pro Multiple submitters ⚠
- p.Ser1937Leu Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Ser1987= Multiple submitters
- p.Ser2155Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser2305Asn Multiple submitters ⚠
- p.Ser405dup Multiple submitters
- p.Ser855fs Multiple submitters
- p.Thr301Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr693Met Multiple submitters ⚠
- p.Trp2111Arg Multiple submitters Inborn genetic diseases ⚠
- p.Val1072Ile Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Val1077Gly Multiple submitters Inborn genetic diseases ⚠
- p.Val167Met Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- p.Val455Ile Multiple submitters ⚠
- p.Val615Ile Multiple submitters developmental and epileptic encephalopathy, 69 ⚠
- c.1056-8_1056-7inv Single submitter
- c.1171+11_1171+28del Single submitter
- c.1172-9T>G Single submitter
- c.1638+1G>C Single submitter
- c.1638+6T>A Single submitter
- c.1639-11T>G Single submitter
- c.1751+43T>A Single submitter
- c.1883+7G>T Single submitter
- c.1956+3A>T Single submitter
- c.2074+8T>C Single submitter
- c.2075-5C>T Single submitter Inborn genetic diseases
- c.2142+5G>A Single submitter
- c.2143-1G>T Single submitter
- c.2143-7T>G Single submitter
- c.2241-13T>G Single submitter
- c.2241-1G>A Single submitter
- c.2241-2A>G Single submitter
- c.267-1C>T Single submitter
- c.267-3C>T Single submitter
- c.2947_2948+1del Single submitter
- c.2948+1G>A Single submitter
- c.2948+4A>G Single submitter
- c.2948+6T>C Single submitter
- c.3262+6_3262+7del Single submitter
- c.3422+6C>G Single submitter
- c.3552+14G>T Single submitter
- c.3612+226A>G Single submitter developmental and epileptic encephalopathy, 69
- c.3613-6C>G Single submitter
- c.372+3A>T Single submitter
- c.372+4T>A Single submitter
- c.372+5_372+18del Single submitter
- c.3720-3T>C Single submitter
- c.3732-3C>T Single submitter
- c.3828+2T>C Single submitter
- c.3828+5T>A Single submitter
- c.3829-1G>T Single submitter
- c.3989+4A>G Single submitter
- c.3990-9T>A Single submitter
- c.4330-1G>A Single submitter
- c.4495-3C>T Single submitter
- c.4605+4T>G Single submitter
- c.4606-4G>A Single submitter Inborn genetic diseases
- c.4690-3C>T Single submitter
- c.4815+2T>C Single submitter
- c.4881+6C>T Single submitter
- c.4974-1G>A Single submitter
- c.513-15449G>A Single submitter developmental and epileptic encephalopathy, 69
- c.5139+6C>A Single submitter
- c.5267+4C>T Single submitter
- c.5578+4del Single submitter
- c.5679+5A>T Single submitter
- c.5786+3G>A Single submitter
- c.616+3G>A Single submitter developmental and epileptic encephalopathy, 69
- c.6208+3G>A Single submitter
- c.6209-3C>T Single submitter Inborn genetic diseases
- c.6399+6C>A Single submitter
- c.6399+6C>G Single submitter
- c.769+1G>A Single submitter
- c.769+4G>T Single submitter
- c.951+29674C>T Single submitter developmental and epileptic encephalopathy, 69
- c.951+3G>A Single submitter
- c.952-1G>C Single submitter
- p.806NPL[1] Single submitter
- p.806NPL[2] Single submitter
- p.Ala1002Pro Single submitter ⚠
- p.Ala1058Val Single submitter ⚠
- p.Ala10Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1102Ser Single submitter ⚠
- p.Ala1126Thr Single submitter ⚠
- p.Ala1145Asp Single submitter ⚠
- p.Ala1145Thr Single submitter ⚠
- p.Ala1172del Single submitter
- p.Ala1361Ser Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Ala1420Thr Single submitter ⚠
- p.Ala1450Thr Single submitter ⚠
- p.Ala1453Thr Single submitter ⚠
- p.Ala1489Ser Single submitter ⚠
- p.Ala1489Thr Single submitter ⚠
- p.Ala1531Thr Single submitter ⚠
- p.Ala1684Ser Single submitter ⚠
- p.Ala1720Gly Single submitter developmental and epileptic encephalopathy ⚠
- p.Ala1749Glu Single submitter ⚠
- p.Ala174Asp Single submitter ⚠
- p.Ala1754Glu Single submitter ⚠
- p.Ala1826Ser Single submitter ⚠
- p.Ala1826Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1860Asp Single submitter ⚠
- p.Ala1860Thr Single submitter ⚠
- p.Ala1871Thr Single submitter ⚠
- p.Ala1896Thr Single submitter ⚠
- p.Ala191_Arg193del Single submitter
- p.Ala1913Gly Single submitter ⚠
- p.Ala1917Gly Single submitter ⚠
- p.Ala1955Pro Single submitter Inborn genetic diseases ⚠
- p.Ala1993Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1993Val Single submitter Inborn genetic diseases ⚠
- p.Ala2179Ser Single submitter ⚠
- p.Ala2199Val Single submitter ⚠
- p.Ala2205_Glu2209del Single submitter
- p.Ala2222Pro Single submitter ⚠
- p.Ala2299fs Single submitter
- p.Ala250Gly Single submitter ⚠
- p.Ala275Thr Single submitter ⚠
- p.Ala366Val Single submitter ⚠
- p.Ala37Gly Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Ala385Thr Single submitter ⚠
- p.Ala38Thr Single submitter Inborn genetic diseases ⚠
- p.Ala47Val Single submitter ⚠
- p.Ala573Val Single submitter ⚠
- p.Ala645Glu Single submitter Inborn genetic diseases ⚠
- p.Ala680Thr Single submitter ⚠
- p.Ala702= Single submitter
- p.Ala707Thr Single submitter ⚠
- p.Ala709Thr Single submitter ⚠
- p.Ala722Thr Single submitter ⚠
- p.Ala722Val Single submitter ⚠
- p.Ala732_Glu734del Single submitter
- p.Ala796Val Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Ala841Asp Single submitter ⚠
- p.Ala899Glu Single submitter ⚠
- p.Ala912Ser Single submitter ⚠
- p.Ala912Thr Single submitter ⚠
- p.Ala97Val Single submitter ⚠
- p.Arg1044Gln Single submitter ⚠
- p.Arg1121Leu Single submitter ⚠
- p.Arg11Met Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Arg1219Gln Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Arg123Ser Single submitter ⚠
- p.Arg1249Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1258Gln Single submitter ⚠
- p.Arg1396His Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Arg1396Ser Single submitter ⚠
- p.Arg1458Cys Single submitter ⚠
- p.Arg1579Ter Single submitter
- p.Arg157His Single submitter ⚠
- p.Arg157Leu Single submitter ⚠
- p.Arg1588His Single submitter ⚠
- p.Arg1642Gln Single submitter ⚠
- p.Arg1642Trp Single submitter ⚠
- p.Arg1693Cys Single submitter ⚠
- p.Arg1731Gln Single submitter ⚠
- p.Arg1731Trp Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Arg1746Cys Single submitter ⚠
- p.Arg1789Lys Single submitter ⚠
- p.Arg1814Trp Single submitter ⚠
- p.Arg1901His Single submitter ⚠
- p.Arg190Trp Single submitter ⚠
- p.Arg193Cys Single submitter ⚠
- p.Arg2025Trp Single submitter ⚠
- p.Arg2028Cys Single submitter ⚠
- p.Arg2050Pro Single submitter Inborn genetic diseases ⚠
- p.Arg2050Ser Single submitter Inborn genetic diseases ⚠
- p.Arg2081Ser Single submitter ⚠
- p.Arg2083Trp Single submitter Inborn genetic diseases ⚠
- p.Arg2085Ter Single submitter
- p.Arg2105Ter Single submitter
- p.Arg2117Leu Single submitter ⚠
- p.Arg2120Trp Single submitter ⚠
- p.Arg2126Thr Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Arg2132fs Single submitter
- p.Arg2153Lys Single submitter ⚠
- p.Arg2156Ser Single submitter ⚠
- p.Arg2157fs Single submitter
- p.Arg2157Gly Single submitter ⚠
- p.Arg2177Ter Single submitter
- p.Arg2262Cys Single submitter ⚠
- p.Arg2273Trp Single submitter ⚠
- p.Arg2284Gly Single submitter ⚠
- p.Arg249Ter Single submitter
- p.Arg25fs Single submitter
- p.Arg360fs Single submitter
- p.Arg364Gln Single submitter ⚠
- p.Arg371Gln Single submitter ⚠
- p.Arg372Cys Single submitter ⚠
- p.Arg378His Single submitter Inborn genetic diseases ⚠
- p.Arg3Cys Single submitter ⚠
- p.Arg3Leu Single submitter ⚠
- p.Arg3Ser Single submitter ⚠
- p.Arg411Gln Single submitter Inborn genetic diseases ⚠
- p.Arg459Trp Single submitter ⚠
- p.Arg466Cys Single submitter ⚠
- p.Arg466Gly Single submitter ⚠
- p.Arg470Gly Single submitter ⚠
- p.Arg533Cys Single submitter ⚠
- p.Arg533His Single submitter ⚠
- p.Arg575Gln Single submitter ⚠
- p.Arg575Trp Single submitter ⚠
- p.Arg590Trp Single submitter ⚠
- p.Arg59Leu Single submitter ⚠
- p.Arg628Ser Single submitter ⚠
- p.Arg668His Single submitter ⚠
- p.Arg769Gln Single submitter ⚠
- p.Arg769Trp Single submitter ⚠
- p.Arg771Cys Single submitter ⚠
- p.Arg781Cys Single submitter ⚠
- p.Arg828Leu Single submitter ⚠
- p.Arg828Pro Single submitter ⚠
- p.Arg828Trp Single submitter ⚠
- p.Arg829Ter Single submitter
- p.Arg863Gly Single submitter ⚠
- p.Arg863Leu Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Arg879Leu Single submitter ⚠
- p.Arg886Gly Single submitter ⚠
- p.Arg911Gln Single submitter ⚠
- p.Arg924Gly Single submitter ⚠
- p.Arg925Leu Single submitter developmental and epileptic encephalopathy, 69 ⚠
- p.Asn1037Asp Single submitter ⚠
- p.Asn1179Ser Single submitter ⚠
- p.Asn1241Ser Single submitter ⚠