| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Familial aplasia of the vermis +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Indel (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 14 | |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Microsatellite (frameshift variant) | Familial aplasia of the vermis +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +3 more | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (splice donor variant) | Familial aplasia of the vermis +3 more | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (splice acceptor variant) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Microsatellite (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 14 | |
| | CEP290, LOC129390514 (R2094fs) | Duplication (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Indel (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (splice acceptor variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +3 more | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 | |
| | | Indel (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Indel (nonsense +1 more) | Bardet-Biedl syndrome 14 | |
| | | Duplication (frameshift variant +1 more) | Bardet-Biedl syndrome 14 | |
| | CEP290, RLIG1 (S1479* +1 more) | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | CEP290, LOC129390514 (E1169* +1 more) | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Familial aplasia of the vermis +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (splice donor variant) | Familial aplasia of the vermis +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +3 more | |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Duplication (nonsense +1 more) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 | |
| | | Microsatellite (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 14 | |
| | | Indel (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 | |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (splice acceptor variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Indel (nonsense) | Bardet-Biedl syndrome 14 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +4 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Meckel-Gruber syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Nephronophthisis +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Familial aplasia of the vermis +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 +3 more | GPathogenic/Likely pathogenic |