| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 71 +2 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Duplication (splice donor variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | IFT172, LOC126806173 (K1317*) | Single nucleotide variant (nonsense) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | IFT172, LOC126806173 (W1315*) | Single nucleotide variant (nonsense) | Retinitis pigmentosa 71 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +2 more | |
| | IFT172, LOC126806173 (A1311V) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +2 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 71 +1 more | |
| | IFT172, LOC126806173 (G1287D +1 more) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | IFT172, LOC126806173 (G1287S +1 more) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 71 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 71 +2 more | |
| | IFT172, LOC126806173 (N1307K) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 71 +2 more | GConflicting classifications of pathogenicity |
| | IFT172, LOC126806173 (S1305fs +1 more) | Microsatellite (frameshift variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 71 +4 more | |
| | IFT172, LOC126806173 (D1304Y +1 more) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 71 +1 more | |
| | IFT172, LOC126806173 (R1303Q) | Single nucleotide variant (missense variant) | Retinal dystrophy +3 more | |
| | IFT172, LOC126806173 (R1303*) | Single nucleotide variant (nonsense) | Retinitis pigmentosa 71 +1 more | |
| | IFT172, LOC126806173 (K1301R +1 more) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | IFT172, LOC126806173 (V1296M) | Single nucleotide variant (missense variant) | Retinitis pigmentosa +3 more | |
| | IFT172, LOC126806173 (R1294H) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 71 +1 more | |
| | IFT172, LOC126806173 (R1294C) | Single nucleotide variant (missense variant) | Retinal dystrophy +3 more | GConflicting classifications of pathogenicity |
| | IFT172, LOC126806173 (S1293G) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | IFT172, LOC126806173 (E1291K) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | IFT172, LOC126806173 (A1289D) | Single nucleotide variant (missense variant) | IFT172-related disorder +2 more | |
| | IFT172, LOC126806173 (E1287K) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | IFT172, LOC126806173 (H1285Q) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +2 more | |
| | IFT172, LOC126806173 (R1284Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | IFT172, LOC126806173 (R1284*) | Single nucleotide variant (nonsense) | Retinal dystrophy +2 more | GPathogenic/Likely pathogenic |
| | IFT172, LOC126806173 (Q1282K) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 71 +1 more | |
| | IFT172, LOC126806173 (F1279S) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 71 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 71 +1 more | |
| | IFT172, LOC126806173 (G1275D +1 more) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 71 +1 more | |
| | LOC126806173, IFT172 (G1275V) | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Microsatellite (intron variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 71 +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 71 +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 71 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 71 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | LOC126806173, IFT172 (K1249N +1 more) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 71 +3 more | |
| | IFT172, LOC126806173 (K1271E +1 more) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 71 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 71 +1 more | |
| | IFT172, LOC126806173 (R1244Q +1 more) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +2 more | |
| | LOC126806173, IFT172 (R1266W) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 71 +1 more | |
| | IFT172, LOC126806173 (E1243Q +1 more) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | IFT172, LOC126806173 (E1265*) | Single nucleotide variant (nonsense) | Retinitis pigmentosa 71 +2 more | GPathogenic/Likely pathogenic |
| | IFT172, LOC126806173 (Y1264F +1 more) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 71 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 71 +1 more | |
| | IFT172, LOC126806173 (L1260V) | Single nucleotide variant (missense variant) | Retinal dystrophy +3 more | |
| | LOC126806173, IFT172 (E1258K) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | IFT172, LOC126806173 (Q1256R) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +2 more | |
| | | Deletion (inframe_deletion) | Short-rib thoracic dysplasia 10 with or without polydactyly +2 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 71 +1 more | |
| | IFT172, LOC126806173 (D1251V) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 71 +2 more | |
| | IFT172, LOC126806173 (C1249Y) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | IFT172, LOC126806173 (R1247C) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +2 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 71 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | IFT172, LOC126806173 (D1244N +1 more) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | IFT172, LOC126806173 (S1243I) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +2 more | |
| | IFT172, LOC126806173 (E1216K +1 more) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Retinitis pigmentosa 71 +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 71 +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +2 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 71 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 71 +2 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 71 +1 more | |
| | IFT172, LOC126806173 (N1234S +1 more) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 71 +1 more | |
| | LOC126806173, IFT172 (N1234H) | Single nucleotide variant (missense variant) | IFT172-related disorder +4 more | |
| | IFT172, LOC126806173 (R1225Q) | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | IFT172, LOC126806173 (R1225W) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +2 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 71 +2 more | |
| | IFT172, LOC126806173 (G1221A) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | IFT172, LOC126806173 (Q1217fs) | Duplication (frameshift variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | IFT172, LOC126806173 (D1215N) | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 20 +2 more | |
| | IFT172, LOC126806173 (E1191K +1 more) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 71 +3 more | |
| | IFT172, LOC126806173 (E1212K) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |