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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126863253, UBA1
(M41L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC126863253, UBA1
(M41V)
Single nucleotide variant
(missense variant)
VEXAS syndrome
+4 more
GConflicting classifications of pathogenicity
LOC126863253, UBA1
(M41T)
Single nucleotide variant
(missense variant)
Infantile-onset X-linked spinal muscular atrophy
+3 more
GConflicting classifications of pathogenicity
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