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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UBA1
(R747C)
Single nucleotide variant
(missense variant)
Infantile-onset X-linked spinal muscular atrophy
GUncertain significance
ARAF, CCDC120
+64 more
Copy number gain
not provided
GPathogenic