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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KLHL9
(H15R)
Single nucleotide variant
(missense variant)
KLHL9-related distal myopathy
GUncertain significance
GBA2, MPDZ
+195 more
Copy number gain
not provided
GPathogenic
CDKN2A, CDKN2B
+22 more
Copy number loss
not provided
GPathogenic
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