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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UBA1
(M539I)
Single nucleotide variant
(missense variant)
Infantile-onset X-linked spinal muscular atrophy
GUncertain significance
UBA1
(S547G)
Single nucleotide variant
(missense variant)
Infantile-onset X-linked spinal muscular atrophy
GPathogenic
UBA1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
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