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Items: 1 to 100 of 225

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLG, RLBP1
(S168fs)
Deletion
(frameshift variant)
Progressive sclerosing poliodystrophy
+1 more
GPathogenic
FANCI, POLG
+1 more
(Q1236H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+12 more
GBenign/Likely benign
FANCI, POLG
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
FANCI, POLG
+1 more
(T1227N)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FANCI, POLG
+1 more
Single nucleotide variant
(synonymous variant +1 more)
POLG-related disorder
+3 more
GConflicting classifications of pathogenicity
POLG, POLGARF
Single nucleotide variant
(splice donor variant)
Mitochondrial disease
GPathogenic
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
+2 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(G1205fs)
Duplication
(frameshift variant)
Mitochondrial disease
GLikely pathogenic
POLG, POLGARF
(R1187Q)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+7 more
GUncertain significance
POLG, POLGARF
(R1187W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(N1171H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
POLG, POLGARF
Single nucleotide variant
(intron variant)
POLG-Related Spectrum Disorders
+8 more
GConflicting classifications of pathogenicity
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FANCI, POLG
+1 more
(E1143G)
Single nucleotide variant
(missense variant)
Mitochondrial disease
GBenign
POLG, POLGARF
(R1142Q)
Single nucleotide variant
(missense variant)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+6 more
GUncertain significance
POLG, POLGARF
(R1142W)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+3 more
GUncertain significance
POLG, POLGARF
(R1128H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(R1096H)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+3 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(R1096C)
Single nucleotide variant
(missense variant)
Mitochondrial disease
GLikely pathogenic
POLG, POLGARF
(R1096G)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome
+2 more
GPathogenic/Likely pathogenic
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
+1 more
GConflicting classifications of pathogenicity
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
POLG-related disorder
+3 more
GConflicting classifications of pathogenicity
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
POLG-Related Spectrum Disorders
+5 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(T1066M)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+1 more
GUncertain significance
POLG, POLGARF
(N1059S)
Single nucleotide variant
(missense variant)
not specified
+8 more
GUncertain significance
POLG, POLGARF
(R1047W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(V1044A)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
+11 more
GConflicting classifications of pathogenicity
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
+1 more
GUncertain significance
FANCI, POLG
+1 more
Single nucleotide variant
(intron variant)
POLG-Related Spectrum Disorders
+7 more
GBenign/Likely benign
POLGARF, POLG
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
POLG, POLGARF
Single nucleotide variant
(splice donor variant)
Progressive sclerosing poliodystrophy
+6 more
GLikely pathogenic
POLG, POLGARF
(A1033V)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+7 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(E1016K)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+1 more
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(V1005G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
+1 more
GConflicting classifications of pathogenicity
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+4 more
GBenign/Likely benign
POLG, POLGARF
(R996Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
POLG, POLGARF
(R996W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POLGARF, POLG
(R993C)
Single nucleotide variant
(missense variant)
not specified
+9 more
GUncertain significance
POLG, POLGARF
(K981N)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+1 more
GUncertain significance
POLG, POLGARF
(Q976del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
POLG, POLGARF
(R972Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POLG, POLGARF
(R964C)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+8 more
GConflicting classifications of pathogenicity
POLGARF, POLG
(A962T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(P960S)
Single nucleotide variant
(missense variant)
POLG-related disorder
+2 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(A957V)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+1 more
GPathogenic/Likely pathogenic
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLGARF, POLG
(R953C)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+3 more
GConflicting classifications of pathogenicity
POLGARF, POLG
Single nucleotide variant
(synonymous variant)
POLG-Related Spectrum Disorders
+5 more
GConflicting classifications of pathogenicity
POLGARF, POLG
(E944G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLG, POLGARF
(E944K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLGARF, POLG
(T914P)
Single nucleotide variant
(missense variant)
POLG-related disorder
+9 more
GPathogenic/Likely pathogenic
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(intron variant)
POLG-Related Spectrum Disorders
+3 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(H911Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
POLG-Related Spectrum Disorders
+4 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(L902V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GUncertain significance
POLG, POLGARF
(T885A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POLG, POLGARF
(P881L)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+2 more
GUncertain significance
POLG, POLGARF
(Q879R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(V878L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
POLG-Related Spectrum Disorders
+4 more
GConflicting classifications of pathogenicity
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
+2 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(R866W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
POLG, POLGARF
(G848S)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+11 more
GPathogenic
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
POLG-Related Spectrum Disorders
+4 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(Y831C)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+6 more
GBenign/Likely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
POLG-related disorder
+3 more
GConflicting classifications of pathogenicity
POLG, POLGARF
Single nucleotide variant
(intron variant)
POLG-related disorder
+4 more
GBenign/Likely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
POLG-related disorder
+3 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(R790H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+8 more
GUncertain significance
POLGARF, POLG
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
POLG, POLGARF
(K755T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(F749S)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+6 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(W748S)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+8 more
GPathogenic/Likely pathogenic
POLG, POLGARF
(D741N)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(G737R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLG, POLGARF
(G737R)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+9 more
GPathogenic/Likely pathogenic
POLG, POLGARF
(N736S)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+10 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(K726R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
POLG, POLGARF
(R722H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(A718S)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+1 more
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(P716S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(D695E)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
POLG-Related Spectrum Disorders
+5 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(A676V)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+7 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(A676T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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