| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Heart defect - tongue hamartoma - polysyndactyly syndrome +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Bardet-Biedl syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Bardet-Biedl syndrome 15 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
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