| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Cenani-Lenz syndactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 17 +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 17 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Sclerosteosis 2 | |
| | | Single nucleotide variant (missense variant) | Cenani-Lenz syndactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Cenani-Lenz syndactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Cenani-Lenz syndactyly syndrome | |
| | | Single nucleotide variant (splice donor variant) | Congenital myasthenic syndrome 17 +2 more | |
| | | Single nucleotide variant (missense variant) | Cenani-Lenz syndactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 17 +2 more | |
| | | Single nucleotide variant (intron variant) | Cenani-Lenz syndactyly syndrome | |
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