| PS213300 | JOUBERT SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 27 | TCTN1, C5orf42, PDE6D, ARL13B, KIF7, TMEM231, TMEM67, KIAA0586, CC2D2A, MKS1, CEP104, AHI1, CEP41, ZNF423, EXOC8, CEP290, TCTN3, NPHP1, INPP5E, OFD1, TMEM237, TMEM216, KIAA0556, CSPP1, TMEM138, RPGRIP1L, TCTN2 |
| PS256100 | NEPHRONOPHTHISIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 15 | NPHP3, XPNPEP3, NEK8, TTC21B, DCDC2, TMEM67, WDR19, ZNF423, CEP164, NPHP4, ANKS6, NPHP1, INVS, GLIS2, CEP83 |
| PS249000 | MECKEL SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 12 | NPHP3, TMEM67, TMEM216, B9D2, CC2D2A, B9D1, RPGRIP1L, MKS1, CEP290, TCTN2, KIF14, TMEM231 |
| 216360 | COACH SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | TMEM67, RPGRIP1L, CC2D2A |
| PS209900 | BARDET-BIEDL SYNDROME | OMIM | link to OMIM | 23 | ARL6, BBS7, KIF7, BBS12, BBS2, BBIP1, TMEM67, LZTFL1, BBS4, TRIM32, MKKS, CCDC28B, WDPCP, CEP290, BBS9, TTC8, BBS10, TTC21B, BBS5, IFT27, MKS1, BBS1, SDCCAG8 |