| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | Meckel-Gruber syndrome +1 more | |
| | | Deletion | Meckel-Gruber syndrome +1 more | |
| | | Deletion | Meckel-Gruber syndrome +1 more | |
| | | Deletion | Meckel-Gruber syndrome +1 more | |
| | | Deletion (frameshift variant +1 more) | Joubert syndrome 7 | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome | |
| | | Deletion (frameshift variant) | not provided | |
| | | Copy number loss | not specified | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | RPGRIP1L (P1102fs +3 more) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 5 +2 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 5 +2 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 5 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (5 prime UTR variant) | Joubert syndrome 7 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Joubert syndrome 7 +2 more | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 5 +3 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | RPGRIP1L (I1062fs +1 more) | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Nephronophthisis 8 +2 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (splice donor variant) | Joubert syndrome 7 | |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome 7 | |