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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLG, POLGARF
(G848S)
Single nucleotide variant
(missense variant)
not provided
+11 more
GPathogenic
POLG, POLGARF
(W748S)
Single nucleotide variant
(missense variant)
not provided
+8 more
GPathogenic/Likely pathogenic
POLG, POLGARF
(R546C)
Single nucleotide variant
(missense variant)
Mitochondrial disease
GBenign
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