| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (intron variant) | TMEM237-related disorder | |
| | LOC129935417, TMEM237 (E11Q) | Single nucleotide variant (missense variant) | TMEM237-related disorder | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 14 | |
| | LOC129935417, TMEM237 (G12S) | Single nucleotide variant (missense variant) | Joubert syndrome 14 | |
| | LOC129935417, TMEM237 (L9Q) | Single nucleotide variant (missense variant) | Joubert syndrome 14 | |
| | LOC129935417, TMEM237 (R8Q) | Single nucleotide variant (missense variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 14 | |
| | LOC129935417, TMEM237 (R8W) | Single nucleotide variant (missense variant) | Joubert syndrome 14 | |
| | LOC129935417, TMEM237 (S5L) | Single nucleotide variant (missense variant) | Joubert syndrome 14 | |
| | LOC129935417, TMEM237 (M1V) | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 14 +1 more | |
| | LOC129935417, TMEM237 (E11K) | Single nucleotide variant (missense variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (5 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (5 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (5 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 14 +2 more | |