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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KMT2B
(E1009fs)
Microsatellite
(frameshift variant)
Dystonic disorder
GPathogenic
KMT2B
(G1048fs)
Deletion
(frameshift variant)
Specific learning disability
+4 more
GPathogenic
KMT2B
(G1652D)
Single nucleotide variant
(missense variant)
Dystonia 28, childhood-onset
GUncertain significance
KMT2B
(R2173fs)
Insertion
(frameshift variant)
Generalized dystonia
+1 more
GPathogenic
MAG, FXYD5
+33 more
Deletion
Dystonic disorder
GPathogenic
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