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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLG, POLGARF
(G1211fs)
Duplication
(frameshift variant)
Mitochondrial disease
GLikely pathogenic
POLG, POLGARF
(M1163R)
Single nucleotide variant
(missense variant)
Mitochondrial disease
Gnot provided
POLG, POLGARF
(Y955C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
POLG, POLGARF
(G848S)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+11 more
GPathogenic
POLG, POLGARF
(W748S)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+8 more
GPathogenic/Likely pathogenic
POLG, POLGARF
(P587L)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+14 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(G517V)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
+11 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(A467T)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+12 more
GPathogenic
POLG, POLGARF
(T251I)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+15 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(R232H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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