| | A3GALT2, ACOT11 +1226 more | Inversion | Bilateral polymicrogyria | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (nonsense +2 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | Global developmental delay +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | DPH2, LOC126805726 (T18P +3 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | DPH2, LOC126805726 (R95W +3 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | DPH2, LOC126805726 (S31T +3 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | DPH2, LOC126805726 (S188A +3 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | DPH2, LOC126805726 (R125C +4 more) | Single nucleotide variant (missense variant +1 more) | Ventricular septal defect +3 more | GConflicting classifications of pathogenicity |
| | DPH2, LOC126805726 (R125H +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DPH2, LOC126805726 (D83G +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DPH2, LOC126805726 (R101W +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DPH2, LOC126805726 (L161R +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DPH2, LOC126805726 (G240E +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DPH2, LOC126805726 (R128W +5 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DPH2, LOC126805726 (R128Q +5 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DPH2, LOC126805726 (R134fs +5 more) | Deletion (frameshift variant +1 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 | |
| | DPH2, LOC126805726 (R89L +5 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DPH2, LOC126805726 (G157D +5 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DPH2, LOC126805726 (H167N +5 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DPH2, LOC126805726 (N170K +5 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DPH2, LOC126805726 (Q115* +5 more) | Single nucleotide variant (nonsense +1 more) | Ventricular septal defect +3 more | GConflicting classifications of pathogenicity |
| | DPH2, LOC126805726 (A117V +5 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DPH2, LOC126805726 (P174T +5 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DPH2, LOC126805726 (N181S +5 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DPH2, LOC126805726 (L190P +5 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DPH2, LOC126805726 (G217D +5 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DPH2, LOC126805726 (P180S +5 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DPH2, LOC126805726 (P328H +6 more) | Single nucleotide variant (missense variant) | not specified | |
| | DPH2, LOC126805726 (A255T +6 more) | Single nucleotide variant (missense variant) | not specified | |
| | DPH2, LOC126805726 (R235H +6 more) | Single nucleotide variant (missense variant) | not specified | |
| | DPH2, LOC126805726 (G272V +6 more) | Single nucleotide variant (missense variant) | not specified | |
| | DPH2, LOC126805726 (T467M +6 more) | Single nucleotide variant (missense variant) | not specified | |
| | DPH2, LOC126805726 (R249* +6 more) | Single nucleotide variant (nonsense) | diphthamide-deficiency syndrome | |
| | DPH2, LOC126805726 (R249Q +6 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Duplication | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Duplication | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not specified | |
| | | Deletion | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Intellectual disability, mild +1 more | |
| | | Duplication | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Copy number gain | See cases | |
| | GPATCH2, GPATCH3 +2014 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |