| | LOC126806103, LOC126806104 +1047 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129933311, LOC129933312 +1631 more | Copy number gain | See cases | |
| | LINC01115, LINC01121 +1400 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TRY-GTA2-1, UBXN2A +321 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | IFT172, KRTCAP3 (Q1749E +1 more) | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 71 +1 more | |
| | IFT172, KRTCAP3 (F1724L +1 more) | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | IFT172, KRTCAP3 (S1721R +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | IFT172, KRTCAP3 (S1743T +1 more) | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 71 +1 more | |
| | IFT172, KRTCAP3 (C1738G +1 more) | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 71 +1 more | |
| | | Deletion (inframe_indel +1 more) | Retinitis pigmentosa 71 +1 more | |
| | IFT172, KRTCAP3 (S1713N +1 more) | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | IFT172, KRTCAP3 (V1708L +1 more) | Single nucleotide variant (missense variant +1 more) | IFT172-related disorder | |
| | IFT172, KRTCAP3 (V1730M +1 more) | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 71 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 10 with or without polydactyly +4 more | |
| | IFT172, KRTCAP3 (Q1728K +1 more) | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 71 +1 more | |
| | IFT172, KRTCAP3 (C1727R +1 more) | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa +3 more | |
| | IFT172, KRTCAP3 (S1702I +1 more) | Single nucleotide variant (missense variant +1 more) | IFT172-related disorder | |
| | | Deletion (intron variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | IFT172, KRTCAP3 (S1724G +1 more) | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 71 +1 more | |
| | IFT172, KRTCAP3 (S1724R +1 more) | Single nucleotide variant (missense variant +1 more) | 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) | Retinitis pigmentosa 71 +2 more | |
| | | Microsatellite (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | 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) | 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 +1 more | |
| | IFT172, KRTCAP3 (K1698T +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | IFT172, KRTCAP3 (K1720R +1 more) | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | IFT172, KRTCAP3 (M1717L +1 more) | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 71 +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | IFT172, KRTCAP3 (N1691D +1 more) | Single nucleotide variant (missense variant +1 more) | IFT172-related disorder | |
| | IFT172, KRTCAP3 (W1712fs +1 more) | Deletion (frameshift variant +1 more) | Anophthalmia-microphthalmia syndrome | |
| | IFT172, KRTCAP3 (D1710N +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | IFT172, KRTCAP3 (N1708K +1 more) | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 71 +2 more | |
| | IFT172, KRTCAP3 (A1707V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | KRTCAP3, IFT172 (A1706T +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinitis pigmentosa 71 +1 more | |
| | IFT172, KRTCAP3 (R1702Q +1 more) | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | IFT172, KRTCAP3 (R1702W +1 more) | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +3 more | |
| | IFT172, KRTCAP3 (I1676T +1 more) | Single nucleotide variant (missense variant +1 more) | IFT172-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | IFT172, KRTCAP3 (L1672V +1 more) | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | IFT172-related disorder | |
| | | Single nucleotide variant (intron variant +1 more) | 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 +2 more | GConflicting classifications of pathogenicity |
| | | 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 | |
| | IFT172, KRTCAP3 (G1690R +1 more) | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 71 +1 more | |
| | IFT172, KRTCAP3 (L1687F +1 more) | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 10 with or without polydactyly +2 more | |
| | IFT172, KRTCAP3 (P1685S +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinitis pigmentosa 71 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | IFT172, KRTCAP3 (R1682Q +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | IFT172, KRTCAP3 (R1682G +1 more) | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | IFT172, KRTCAP3 (R1682* +1 more) | Single nucleotide variant (nonsense +1 more) | Retinitis pigmentosa 71 +2 more | GPathogenic/Likely pathogenic |
| | IFT172, KRTCAP3 (V1681I +1 more) | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 71 +1 more | |
| | IFT172, KRTCAP3 (T1679S +1 more) | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 71 +1 more | |
| | IFT172, KRTCAP3 (S1656T +1 more) | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | IFT172, KRTCAP3 (S1678N +1 more) | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 71 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | IFT172, KRTCAP3 (A1677S +1 more) | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 71 +1 more | |
| | IFT172, KRTCAP3 (V1675A +1 more) | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 71 +1 more | |
| | IFT172, KRTCAP3 (S1651F +1 more) | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 10 with or without polydactyly +1 more | |
| | IFT172, KRTCAP3 (A1650D +1 more) | Single nucleotide variant (missense variant +1 more) | IFT172-related disorder | |
| | KRTCAP3, IFT172 (A1672G +1 more) | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 71 +1 more | |