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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KMT2B
(P587R)
Single nucleotide variant
(missense variant)
Dystonia 28, childhood-onset
+1 more
GConflicting classifications of pathogenicity
KMT2B
Microsatellite
(inframe_insertion)
Dystonia 28, childhood-onset
+1 more
GUncertain significance
KMT2B
(R901Q)
Single nucleotide variant
(missense variant)
Dystonia 28, childhood-onset
GUncertain significance
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