| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Basal ganglia calcification, idiopathic, 7, autosomal recessive | |
| | | Microsatellite (frameshift variant) | Basal ganglia calcification, idiopathic, 7, autosomal recessive | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant | Basal ganglia calcification, idiopathic, 7, autosomal recessive | |
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