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Links from MedGen

Items: 1 to 100 of 213

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
TWNK
(D397G)
Single nucleotide variant
(missense variant +2 more)
Perrault syndrome 5
+4 more
GUncertain significance
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
(C208*)
Single nucleotide variant
(nonsense)
Progressive sclerosing poliodystrophy
+1 more
GPathogenic/Likely pathogenic
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
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
(A604V)
Single nucleotide variant
(missense variant)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+1 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
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive cerebellar ataxia
+3 more
GUncertain significance
TWNK
(V305I)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GUncertain significance
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Infantile onset spinocerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+3 more
GUncertain significance
TWNK
(A79T +1 more)
Single nucleotide variant
(missense variant +1 more)
Infantile onset spinocerebellar ataxia
+5 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(synonymous variant +2 more)
TWNK-related disorder
+5 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Infantile onset spinocerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive cerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +2 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+4 more
GConflicting classifications of pathogenicity
TWNK
(A182T +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+4 more
GUncertain significance
TWNK
(R199Q)
Single nucleotide variant
(missense variant +2 more)
Infantile onset spinocerebellar ataxia
+4 more
GUncertain significance
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Infantile onset spinocerebellar ataxia
+4 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+3 more
GUncertain significance
TWNK
(R155L +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Infantile onset spinocerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(synonymous variant +1 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+4 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Infantile onset spinocerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Infantile onset spinocerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(5 prime UTR variant +1 more)
Infantile onset spinocerebellar ataxia
+3 more
GUncertain significance
POLGARF, POLG
(L244V)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
+5 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(E454D)
Single nucleotide variant
(missense variant)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
GLikely pathogenic
POLG, POLGARF
(A839fs)
Deletion
(frameshift variant)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+1 more
GPathogenic/Likely pathogenic
POLG, POLGARF
Microsatellite
(nonsense)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+1 more
GPathogenic/Likely pathogenic
POLG, POLGARF
(G111R)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+6 more
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
+5 more
GLikely benign
POLG, POLGARF
(Y1210*)
Single nucleotide variant
(nonsense)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
GPathogenic
POLG, POLGARF
(L931R)
Single nucleotide variant
(missense variant)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
GLikely pathogenic
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
TWNK
(R357P)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
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
POLG, POLGARF
Single nucleotide variant
(intron variant)
POLG-related disorder
+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
POLGARF, POLG
(R1187Q)
Single nucleotide variant
(missense variant)
POLG-related disorder
+7 more
GUncertain significance
POLG, POLGARF
(L902V)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+7 more
GUncertain significance
POLG, POLGARF
(L247V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+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)
Progressive sclerosing poliodystrophy
+1 more
GUncertain significance
POLG, POLGARF
(T690M)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+7 more
GUncertain significance
POLG, POLGARF
(E557Q)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+6 more
GUncertain significance
POLG, POLGARF
(V1106A)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+6 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(intron variant)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+4 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
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
GLikely pathogenic
TWNK
(G19E)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive cerebellar ataxia
+4 more
GConflicting classifications of pathogenicity
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+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
POLG, POLGARF
(R993C)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
POLG, POLGARF
(D1068E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+8 more
GUncertain significance
TWNK
(Y537H +1 more)
Single nucleotide variant
(missense variant +1 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+7 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(R597W)
Single nucleotide variant
(missense variant)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+3 more
GPathogenic
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+3 more
GBenign
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Infantile onset spinocerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive cerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Infantile onset spinocerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive cerebellar ataxia
+4 more
GBenign
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