| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Hypoparathyroidism-retardation-dysmorphism syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion +1 more) | Encephalopathy, progressive, with amyotrophy and optic atrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, progressive, with amyotrophy and optic atrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Hypoparathyroidism-retardation-dysmorphism syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +1 more | |
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