| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies +3 more | |
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 15 +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 15 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies +3 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 15 +4 more | |
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