| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | BAZ2B, BAZ2B-AS1 +197 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935070, LOC129935071 +162 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Epilepsy of infancy with migrating focal seizures | |
| | | Deletion | Generalized epilepsy with febrile seizures plus, type 7 +2 more | |
| | LOC129935046, LOC129935047 +17 more | Deletion | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Deletion | Neuropathy, hereditary sensory and autonomic, type 2A +2 more | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | West syndrome | |
| | LOC100506124, LOC129388938 +14 more | Duplication | Generalized epilepsy with febrile seizures plus, type 7 +2 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Duplication (3 prime UTR variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Asphyxiating thoracic dystrophy 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Asphyxiating thoracic dystrophy 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 12 +2 more | |
| | LOC102724058, LOC129935046 +6 more | Deletion | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +1 more | |
| | | Deletion (frameshift variant) | Jeune thoracic dystrophy +1 more | |
| | | Deletion (intron variant) | Jeune thoracic dystrophy +3 more | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 12 +1 more | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | TTC21B-related condition +4 more | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy +1 more | |