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Items: 3

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
(P587L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+14 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(T251I)
Single nucleotide variant
(missense variant)
not specified
+15 more
GConflicting classifications of pathogenicity
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