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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862382, VPS4A
(A28V)
Single nucleotide variant
(missense variant)
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
+1 more
GLikely pathogenic
VPS4A
(G203E)
Single nucleotide variant
(missense variant)
Syndromic congenital hemolytic and dyserythropoietic anemia
GPathogenic
VPS4A
(R284W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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