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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MICU1
Single nucleotide variant
(splice donor variant)
Proximal myopathy with extrapyramidal signs
+1 more
GPathogenic/Likely pathogenic
MICU1
Single nucleotide variant
(intron variant)
Proximal myopathy with extrapyramidal signs
GUncertain significance
MICU1
(R154*)
Single nucleotide variant
(nonsense)
Proximal myopathy with extrapyramidal signs
GPathogenic/Likely pathogenic
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