| | | Copy number gain | See cases | |
| | ABHD14A, ABHD14A-ACY1
+329 more | Copy number loss | See cases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | GNAI2-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Pituitary dependent hypercortisolism | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ovarian granulosa cell tumor +2 more | |
| | | Single nucleotide variant (missense variant) | Motor delay +5 more | |
| | | Single nucleotide variant (missense variant) | Ventricular tachycardia, somatic | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | GNAI2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Familial isolated pituitary adenoma | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Primary ciliary dyskinesia | |
| | | Deletion | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Deletion | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more | |
| | SEMA3F-AS1, SLC38A3
+4 more | Duplication | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Breast ductal adenocarcinoma | |