| | | Single nucleotide variant (missense variant +3 more) | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | |
| | | Single nucleotide variant (synonymous variant +2 more) | TRAPPC2L-related disorder +1 more | |
| | | Single nucleotide variant (splice donor variant) | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | |
| | | Single nucleotide variant (intron variant) | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | |
| | | Single nucleotide variant (missense variant +1 more) | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis +1 more | GConflicting classifications of pathogenicity |
| | ANKRD11, TRAPPC2L (F1202fs) | Duplication (frameshift variant) | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | |
| | TRAPPC2L, ANKRD11 (G1384fs) | Duplication (frameshift variant) | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | |
| | ANKRD11, TRAPPC2L (S1878P) | Single nucleotide variant (missense variant) | ANKRD11-related disorder +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | ANKRD11-related disorder +4 more | |
| | ANKRD11, TRAPPC2L (Q2394*) | Single nucleotide variant (nonsense) | KBG syndrome +1 more | |