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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNTN1
(R274Q +1 more)
Single nucleotide variant
(missense variant)
Compton-North congenital myopathy
+3 more
GUncertain significance
CNTN1
(D492V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance