Links from MedGen
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +2 more) | Basal ganglia calcification, idiopathic, 8, autosomal recessive | |
| | | Duplication (splice acceptor variant) | Basal ganglia calcification, idiopathic, 8, autosomal recessive | |
| | | Single nucleotide variant (nonsense +1 more) | JAM2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Basal ganglia calcification, idiopathic, 8, autosomal recessive | |
| | | Deletion | Basal ganglia calcification, idiopathic, 8, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Basal ganglia calcification, idiopathic, 8, autosomal recessive | |
| | | Single nucleotide variant (missense variant +2 more) | Basal ganglia calcification, idiopathic, 8, autosomal recessive | |
| | | Deletion (nonsense +2 more) | Basal ganglia calcification, idiopathic, 8, autosomal recessive | |
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