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Links from MedGen

Items: 1 to 100 of 137

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLG, POLGARF
(N468I)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+3 more
GUncertain significance
POLG, POLGARF
(T251I +1 more)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+1 more
GPathogenic
POLG, POLGARF
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 1
+5 more
GLikely benign
POLG, POLGARF
(W486*)
Single nucleotide variant
(nonsense)
Progressive sclerosing poliodystrophy
+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 sclerosing poliodystrophy
+5 more
GUncertain significance
POLG, POLGARF
(P829S)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+5 more
GUncertain significance
POLG, POLGARF
(E698D)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+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)
not provided
+6 more
GUncertain significance
POLG, POLGARF
(T606fs)
Duplication
(frameshift variant)
Mitochondrial DNA depletion syndrome 4b
+1 more
GLikely pathogenic
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
+5 more
GUncertain significance
POLGARF, POLG
(G67A)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+5 more
GUncertain significance
POLG, POLGARF
(P753S)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+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
(N134K)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 4b
+6 more
GUncertain significance
POLG, POLGARF
(G1051W)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
POLGARF, POLG
(L244V)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
+5 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(S1095fs)
Deletion
(frameshift variant)
Progressive sclerosing poliodystrophy
+1 more
GLikely pathogenic
POLG, POLGARF
(G111R)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+6 more
GUncertain significance
POLG, POLGARF
(Y282D)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 4b
+2 more
GConflicting classifications of pathogenicity
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
+5 more
GLikely benign
POLG, POLGARF
(R1071C)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
POLG, POLGARF
(R290H)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
POLG, POLGARF
(S1086fs)
Duplication
(frameshift variant)
Progressive sclerosing poliodystrophy
GPathogenic
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)
Progressive sclerosing poliodystrophy
+5 more
GPathogenic
POLGARF, POLG
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
+6 more
GBenign
POLG, POLGARF
Single nucleotide variant
(splice donor variant)
Progressive sclerosing poliodystrophy
+6 more
GPathogenic/Likely pathogenic
POLGARF, POLG
Single nucleotide variant
(splice donor variant)
Mitochondrial disease
GPathogenic
POLG, POLGARF
(R1187Q)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+7 more
GUncertain significance
POLG, POLGARF
(L902V)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+7 more
GUncertain significance
POLG, POLGARF
(R1128H)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+3 more
GConflicting classifications of pathogenicity
POLGARF, POLG
(L247V)
Single nucleotide variant
(missense variant)
POLG-related disorder
+8 more
GUncertain significance
POLG, POLGARF
(Q144R)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+7 more
GUncertain significance
POLG, POLGARF
(I87T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
POLG, POLGARF
(T690M)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
POLG, POLGARF
(E557Q)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+6 more
GUncertain significance
EDAR, RANBP2
(R89C)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GPathogenic
POLG, POLGARF
Deletion
(inframe_deletion)
not provided
+3 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(L5F)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 4b
GUncertain significance
POLG, POLGARF
(V1106A)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+6 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(L474I)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
FANCI, POLG
+1 more
(I1223V)
Single nucleotide variant
(missense variant +1 more)
Progressive sclerosing poliodystrophy
+8 more
GConflicting classifications of pathogenicity
POLGARF, POLG
(R1148C)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
POLGARF, POLG
(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 sclerosing poliodystrophy
+7 more
GUncertain significance
POLG, POLGARF
(A676V)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(V844M)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+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
(T210I)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
POLG, POLGARF
(E538A)
Single nucleotide variant
(missense variant)
not specified
+8 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)
Progressive sclerosing poliodystrophy
+6 more
GLikely pathogenic
POLGARF, POLG
Single nucleotide variant
(synonymous variant)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+5 more
GLikely benign
POLGARF, POLG
(R993C)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 4b
+9 more
GUncertain significance
POLGARF, POLG
(D1068E)
Single nucleotide variant
(missense variant)
not specified
+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)
Progressive sclerosing poliodystrophy
+7 more
GPathogenic
POLGARF, POLG
(T914P)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+9 more
GPathogenic/Likely pathogenic
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
not provided
+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)
not provided
+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 sclerosing poliodystrophy
+6 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(H110Y)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(R1026H)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
POLG, POLGARF
(M603T)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(N468D)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+12 more
GConflicting classifications of pathogenicity
POLGARF, POLG
(R443H)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
+6 more
GUncertain significance
POLG, POLGARF
(R386C)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+4 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(R288C)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+5 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(H277L)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+7 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)
Progressive sclerosing poliodystrophy
+9 more
GUncertain significance
POLG, POLGARF
(G1169S)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
+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
(R1026C)
Single nucleotide variant
(missense variant)
POLG-related disorder
+8 more
GUncertain significance
POLG, POLGARF
(R964C)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+8 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(L874M)
Single nucleotide variant
(missense variant)
POLG-related disorder
+3 more
GConflicting classifications of pathogenicity
POLGARF, POLG
(R852C)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+9 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
+10 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(D695E)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
POLG, POLGARF
(I687V)
Single nucleotide variant
(missense variant)
POLG-related disorder
+7 more
GUncertain significance
POLG, POLGARF
Microsatellite
(inframe_insertion)
not provided
+8 more
GBenign/Likely benign
POLG, POLGARF
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+10 more
GBenign/Likely benign
POLG, POLGARF
Microsatellite
(inframe_deletion)
POLG-related disorder
+8 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(Y1108F)
Single nucleotide variant
(missense variant)
not specified
+7 more
GUncertain significance
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