| | | Single nucleotide variant (missense variant) | not provided | |
| | IFT140, LOC105371046 (V217L) | Single nucleotide variant (missense variant) | IFT140-related disorder | |
| | | Single nucleotide variant (splice donor variant) | IFT140-related disorder | |
| | | Single nucleotide variant (intron variant) | IFT140-related disorder | |
| | IFT140, LOC105371046 (V449M) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | IFT140, LOC105371046 (Y5C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | IFT140, LOC126862260 (S967I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | Saldino-Mainzer syndrome | |
| | | Duplication | Saldino-Mainzer syndrome | |
| | IFT140, LOC105371046 (Y216*) | Single nucleotide variant (nonsense) | Saldino-Mainzer syndrome | |
| | IFT140, LOC105371046 (P12fs) | Deletion (frameshift variant) | Retinitis pigmentosa 80 | |
| | LOC105371046, IFT140 (H57fs) | Microsatellite (frameshift variant) | Retinitis pigmentosa 80 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | IFT140, LOC105371046 (A299G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | IFT140, LOC105371046 (A180T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | IFT140, LOC105371046 (H154R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | IFT140, LOC105371046 (T97M) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | IFT140, LOC105371046 (L47R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | IFT140, LOC105371046 (V348fs) | Deletion (frameshift variant) | Retinitis pigmentosa 80 | |
| | IFT140, LOC105371046 (S499fs) | Deletion (frameshift variant) | Retinitis pigmentosa 80 | |
| | IFT140, LOC105371046 (C329fs) | Insertion (frameshift variant) | Retinitis pigmentosa 80 | |
| | | Single nucleotide variant (synonymous variant) | IFT140-related disorder | |
| | | Single nucleotide variant (intron variant) | Kidney disorder +1 more | GConflicting classifications of pathogenicity |
| | IFT140, LOC105371046 (P28Q) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Retinal dystrophy | |
| | IFT140, LOC105371046 (S114G) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | IFT140, LOC105371046 (Q225R) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | IFT140, LOC105371046 (A281S) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | IFT140, LOC105371046 (C331Y) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | IFT140, LOC105371046 (L469I) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | IFT140, LOC105371046 (V486M) | Single nucleotide variant (missense variant) | Retinal dystrophy +1 more | |
| | IFT140, LOC126862260 (Y924*) | Single nucleotide variant (nonsense) | Retinal dystrophy | |
| | IFT140, LOC126862260 (V988fs) | Deletion (frameshift variant) | Retinal dystrophy | |
| | IFT140, LOC126862260 (N1005fs) | Deletion (frameshift variant) | Retinal dystrophy | |
| | IFT140, LOC126862260 (V1026F) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Retinal dystrophy | |
| | | Single nucleotide variant (intron variant) | Saldino-Mainzer syndrome | |
| | IFT140, LOC105371046 (G79V) | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (intron variant) | Saldino-Mainzer syndrome | |
| | IFT140, LOC105371046 (I305V) | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | LOC105371046, IFT140 (V64L) | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (intron variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (intron variant) | Saldino-Mainzer syndrome | |
| | IFT140, LOC105371046 (T373I) | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | IFT140, LOC105371046 (R352K) | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Microsatellite (intron variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (intron variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | IFT140, LOC126862260 (Y1020*) | Single nucleotide variant (nonsense) | Saldino-Mainzer syndrome | |
| | IFT140, LOC105371046 (R63Q) | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Deletion (intron variant) | Saldino-Mainzer syndrome | |
| | IFT140, LOC105371046 (L128V) | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (intron variant) | Saldino-Mainzer syndrome | |
| | IFT140, LOC105371046 (M1T) | Single nucleotide variant (missense variant +1 more) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (intron variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | IFT140, LOC105371046 (Q234K) | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (splice donor variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | IFT140, LOC105371046 (D304fs) | Deletion (frameshift variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (intron variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | IFT140, LOC105371046 (C329Y) | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (intron variant) | Saldino-Mainzer syndrome | |
| | IFT140, LOC105371046 (L127fs) | Deletion (frameshift variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (intron variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (intron variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (intron variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (intron variant) | Saldino-Mainzer syndrome | |
| | IFT140, LOC105371046 (V32L) | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (intron variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (intron variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (splice donor variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (intron variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |