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Items: 1 to 100 of 129

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLG, POLGARF
(N468I)
Single nucleotide variant
(missense variant)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+3 more
GUncertain significance
POLG, POLGARF
(T251I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
+5 more
GLikely benign
POLGARF, POLG
(W486*)
Single nucleotide variant
(nonsense)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
+4 more
GPathogenic
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
+5 more
GUncertain significance
POLG, POLGARF
(A1178T)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
+5 more
GUncertain significance
POLG, POLGARF
(P829S)
Single nucleotide variant
(missense variant)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+5 more
GUncertain significance
POLG, POLGARF
(E698D)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
+5 more
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
+5 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(T636R)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+5 more
GUncertain significance
POLG, POLGARF
(S332F)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+5 more
GUncertain significance
POLG, POLGARF
Insertion
(intron variant)
Mitochondrial DNA depletion syndrome 4b
+4 more
GBenign
POLG, POLGARF
(G1076D)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
+6 more
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
+5 more
GUncertain significance
POLG, POLGARF
(G67A)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+5 more
GUncertain significance
POLG, POLGARF
(P753S)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
+5 more
GUncertain significance
POLG, POLGARF
(V646F)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
POLG, POLGARF
(L752P)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+6 more
GUncertain significance
POLG, POLGARF
(G23fs)
Deletion
(frameshift variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
+1 more
GPathogenic/Likely pathogenic
POLG, POLGARF
(N134K)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
POLG, POLGARF
(G1051W)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
+7 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(L244V)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+5 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(G111R)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
+5 more
GLikely benign
POLG, POLGARF
(R1071C)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
+5 more
GUncertain significance
POLG, POLGARF
(R290H)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 4b
+4 more
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
+5 more
GBenign
POLG, POLGARF
(R275Q)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+5 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(E693del)
Microsatellite
(inframe_deletion)
Progressive sclerosing poliodystrophy
+5 more
GUncertain significance
POLG, POLGARF
(Q715*)
Single nucleotide variant
(nonsense)
Mitochondrial DNA depletion syndrome 4b
+5 more
GPathogenic
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
+5 more
GBenign
POLG, POLGARF
Single nucleotide variant
(splice donor variant)
not provided
+6 more
GPathogenic/Likely pathogenic
POLG, POLGARF
Single nucleotide variant
(splice donor variant)
Mitochondrial disease
GPathogenic
POLG, POLGARF
(R1187Q)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
+6 more
GUncertain significance
POLG, POLGARF
(L902V)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
+7 more
GUncertain significance
POLG, POLGARF
(L247V)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
+7 more
GUncertain significance
POLG, POLGARF
(Q144R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GUncertain significance
POLG, POLGARF
(I87T)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+1 more
GUncertain significance
POLG, POLGARF
(T690M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GUncertain significance
POLGARF, POLG
(E557Q)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+6 more
GUncertain significance
POLG, POLGARF
(V1106A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(L474I)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
+6 more
GUncertain significance
POLG, POLGARF
+1 more
(I1223V)
Single nucleotide variant
(missense variant +1 more)
Progressive sclerosing poliodystrophy
+8 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(R1148C)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+7 more
GUncertain significance
POLG, POLGARF
(R628W)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+5 more
GUncertain significance
POLG, POLGARF
(G426S)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+6 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(D243E)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
+7 more
GUncertain significance
POLG, POLGARF
(A676V)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+7 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(V844M)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
POLG, POLGARF
(R823H)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
+7 more
GUncertain significance
POLG, POLGARF
(D1013Y)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
POLG, POLGARF
(T210I)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+6 more
GUncertain significance
POLG, POLGARF
(E538A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GUncertain significance
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
+1 more
GLikely pathogenic
POLG, POLGARF
Single nucleotide variant
(splice donor variant)
not provided
+6 more
GLikely pathogenic
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 1
+5 more
GLikely benign
POLG, POLGARF
(R993C)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+8 more
GUncertain significance
POLG, POLGARF
(D1068E)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+8 more
GUncertain significance
POLG, POLGARF
(G366A)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+6 more
GUncertain significance
POLG, POLGARF
(R309C)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+6 more
GPathogenic
POLG, POLGARF
Single nucleotide variant
(splice donor variant)
not provided
+6 more
GPathogenic
POLG, POLGARF
(R807C)
Single nucleotide variant
(missense variant)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+4 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(T914P)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+8 more
GPathogenic/Likely pathogenic
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
+5 more
GLikely benign
POLG, POLGARF
(Y837C)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+6 more
GUncertain significance
POLG, POLGARF
(P524A)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+6 more
GUncertain significance
POLG, POLGARF
(N468S)
Single nucleotide variant
(missense variant)
not specified
+8 more
GUncertain significance
POLG, POLGARF
(P116S)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
+6 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(H110Y)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(R1026H)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
+6 more
GUncertain significance
POLG, POLGARF
(P648R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
POLG, POLGARF
(M603T)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
+6 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(N468D)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+12 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(R443H)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
+6 more
GUncertain significance
POLG, POLGARF
(S305R)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
+4 more
GPathogenic/Likely pathogenic
POLG, POLGARF
(R288C)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+5 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(S240L)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
FANCI, POLG
+1 more
(A1217V)
Single nucleotide variant
(missense variant +1 more)
POLG-Related Spectrum Disorders
+9 more
GUncertain significance
POLG, POLGARF
(G1169S)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+7 more
GUncertain significance
POLG, POLGARF
(R1096C)
Single nucleotide variant
(missense variant)
Mitochondrial disease
GLikely pathogenic
POLG, POLGARF
(T1072S)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+7 more
GUncertain significance
POLG, POLGARF
(S29C)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+6 more
GUncertain significance
POLG, POLGARF
(R1047W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(R1026C)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+8 more
GUncertain significance
POLG, POLGARF
(R852C)
Single nucleotide variant
(missense variant)
not provided
+8 more
GPathogenic
POLG, POLGARF
(N740D)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+7 more
GUncertain significance
POLG, POLGARF
(N736S)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+9 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(D695E)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+7 more
GUncertain significance
POLG, POLGARF
(I687V)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
+7 more
GUncertain significance
POLG, POLGARF
Microsatellite
(inframe_insertion)
Inborn genetic diseases
+8 more
GBenign/Likely benign
POLG, POLGARF
Microsatellite
(inframe_deletion)
not specified
+9 more
GBenign/Likely benign
POLG, POLGARF
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+8 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(Y1108F)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+6 more
GUncertain significance
POLG, POLGARF
(A1033V)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(G674D)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+8 more
GConflicting classifications of pathogenicity
MIR6766, POLG
+1 more
Deletion
(non-coding transcript variant +1 more)
Inborn genetic diseases
+9 more
GBenign/Likely benign
POLG, POLGARF
(L392V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+10 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(G268A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+10 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(R1142Q)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
+6 more
GUncertain significance
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