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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLG, POLGARF
(W748S)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+8 more
GPathogenic/Likely pathogenic
POLG, POLGARF
(G737R)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+9 more
GPathogenic/Likely pathogenic
POLG, POLGARF
(P587L)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
+14 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(N468D)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 4b
+12 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(A467T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+12 more
GPathogenic
POLG, POLGARF
(T251I)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+15 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(A143V)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+3 more
GConflicting classifications of pathogenicity
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