| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Joubert syndrome 24 +4 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 24 +4 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 24 +4 more | |
| | ATP6V0A2, LOC130009117
+1 more | Single nucleotide variant (5 prime UTR variant) | Cutis laxa, recessive +4 more | |
Click to view in NCBI Gene