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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP63, KY
(C634F +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 7
GUncertain significance
CEP63, KY
(S279C +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance