| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126862382, VPS4A (A28V) | Single nucleotide variant (missense variant) | Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Syndromic congenital hemolytic and dyserythropoietic anemia | |
| | | Single nucleotide variant (missense variant) | Syndromic congenital hemolytic and dyserythropoietic anemia +1 more | |
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