| | | Single nucleotide variant (nonsense) | Bartter disease type 4B +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | Familial adenomatous polyposis 2 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Hereditary spastic paraplegia 47 | |
| | LMNA, LOC126805877 (Q131* +2 more) | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | Anterior segment dysgenesis 6 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Xeroderma pigmentosum, group C +1 more | GPathogenic/Likely pathogenic |
| | PDE6B, PDE6B-AS1 (Q298* +1 more) | Single nucleotide variant (nonsense +1 more) | Retinal dystrophy +3 more | |
| | | Single nucleotide variant (nonsense) | Catecholaminergic polymorphic ventricular tachycardia 3 | |
| | | Single nucleotide variant (nonsense) | Mitochondrial disease | |
| | | Single nucleotide variant (nonsense +3 more) | Bardet-Biedl syndrome 9 +2 more | |
| | | Single nucleotide variant (nonsense) | Maturity-onset diabetes of the young type 2 | |
| | | Single nucleotide variant (nonsense +1 more) | Epilepsy, early-onset, vitamin B6-dependent | |
| | | Single nucleotide variant (nonsense) | Trichorhinophalangeal dysplasia type I | |
| | CYP11B1, LOC110673972 (Q19*) | Single nucleotide variant (nonsense) | Deficiency of steroid 11-beta-monooxygenase +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | not provided +3 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | Diamond-Blackfan anemia 10 | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hereditary pheochromocytoma-paraganglioma +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Bardet-Biedl syndrome 4 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Bilateral frontoparietal polymicrogyria | |
| | | Single nucleotide variant (nonsense +2 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (nonsense) | Maple syrup urine disease | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | Proline dehydrogenase deficiency | |
| | | Single nucleotide variant (nonsense) | Linear skin defects with multiple congenital anomalies 2 | |
| | | Single nucleotide variant (nonsense) | DNAAF6-related disorder | |
| | | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases +1 more | |