| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +4 more | |
| | | Insertion (intron variant) | Meckel syndrome, type 10 +1 more | |
| | | Single nucleotide variant (intron variant) | Meckel syndrome, type 10 +1 more | |
| | | Single nucleotide variant (intron variant) | Meckel syndrome, type 10 +1 more | |
| | | Single nucleotide variant (nonsense) | Meckel syndrome, type 10 | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 10 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome and related disorders +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Joubert syndrome and related disorders | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
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