| | | Copy number gain | See cases | |
| | ABHD14A, ABHD14A-ACY1 +329 more | Copy number loss | See cases | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (R1074fs +3 more) | Deletion (frameshift variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CYB561D2, LOC127898564 +1 more (V1144fs +3 more) | Deletion (frameshift variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (R1075G +4 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (R1075C +3 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (Q1134H +3 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +2 more | GConflicting classifications of pathogenicity |
| | CYB561D2, LOC127898564 +1 more (P1133L +3 more) | Single nucleotide variant (missense variant) | Cerebellar atrophy with seizures and variable developmental delay +3 more | |
| | CACNA2D2, CYB561D2 +1 more (P1133S +4 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CYB561D2, LOC127898564 +1 more | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | CACNA2D2, CYB561D2 +1 more (P1131L +3 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (Q1134fs +3 more) | Duplication (frameshift variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC127898564, CACNA2D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CYB561D2, LOC127898564 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (P1062L +3 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (L1124F +3 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | CACNA2D2, CYB561D2 +1 more (L1123V +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CACNA2D2, CYB561D2 +1 more (L1054R +4 more) | Single nucleotide variant (missense variant) | Cerebellar atrophy with seizures and variable developmental delay | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (V1124I +3 more) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | CACNA2D2-related condition +1 more | |
| | CACNA2D2, CYB561D2 +1 more (P1118L +3 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (F1109C +3 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC127898564, CACNA2D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CYB561D2, LOC127898564 +1 more (R1105H +3 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (G1037V +3 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (C1103S +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | CYB561D2, LOC127898564 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (T1033I +3 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Duplication (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC127898564, CACNA2D2 +1 more | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (intron variant) | not provided +1 more | |
| | CACNA2D2, CYB561D2 +1 more (A1098V +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | CACNA2D2, CYB561D2 +1 more (A1098P +3 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, LOC127898564 +1 more (A1096T +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (H1089Q +3 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (P1021L +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC127898564, CACNA2D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | CACNA2D2, CYB561D2 +1 more (R1016* +4 more) | Single nucleotide variant (nonsense) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (P1015T +4 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (R1014T +3 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (V1012M +3 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC127898564, CACNA2D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (Q1077* +3 more) | Single nucleotide variant (nonsense) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC127898564, CACNA2D2 +1 more (E1007K +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC127898564, CYB561D2 +1 more (P1006Q +3 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (P1073L +3 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (D1073G +3 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (P1071S +1 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (C1070Y +1 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (splice acceptor variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Insertion (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more (H1000Y +3 more) | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | CACNA2D2, CYB561D2 +1 more | Single nucleotide variant (synonymous variant) | Early infantile epileptic encephalopathy with suppression bursts | |