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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLG, POLGARF
(G848S)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
+11 more
GPathogenic
POLG, POLGARF
(A467T)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 4b
+12 more
GPathogenic