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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLG, POLGARF
(R1096C)
Single nucleotide variant
(missense variant)
Mitochondrial disease
GLikely pathogenic
POLG, POLGARF
(R964C)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(W748S)
Single nucleotide variant
(missense variant)
not provided
+8 more
GPathogenic/Likely pathogenic
POLG, POLGARF
(P587L)
Single nucleotide variant
(missense variant)
not specified
+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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