| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Meckel syndrome, type 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Joubert syndrome 28 +2 more | |
| | LOC130061271, MKS1 (D19fs) | Duplication (5 prime UTR variant +1 more) | Familial aplasia of the vermis +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Joubert syndrome 28 +2 more | |
| | | Deletion (genic upstream transcript variant) | Meckel syndrome, type 1 +2 more | |
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