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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MECR
(G195R +4 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
+1 more
GUncertain significance
MECR
(F46P +4 more)
Indel
(missense variant +1 more)
not provided
GUncertain significance
MECR
(C26G)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
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