| | LOC132089226, LOC132089227
+1167 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 65 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 65 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | CYFIP2, NIPAL4-DT (L1005F +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CYFIP2, NIPAL4-DT (G1013E +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | NIPAL4-DT, CYFIP2 (R1084W +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CYFIP2, NIPAL4-DT (W1082L +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | NIPAL4-DT, CYFIP2 (G1084D +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | NIPAL4-DT, CYFIP2 (M1092T +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CYFIP2, NIPAL4-DT (E1096V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CYFIP2, LOC126807569
+1 more (D1128N +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126807569, NIPAL4-DT
+1 more (F1147S +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CYFIP2, LOC126807569
+1 more (D1151N +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CYFIP2, NIPAL4-DT (K1183T +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CYFIP2, NIPAL4-DT (S1201A +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CYFIP2, NIPAL4-DT (V1202M +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |