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Links from MedGen

Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MILR1, POLG2
(Q397*)
Single nucleotide variant
(nonsense)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
GUncertain significance
MILR1, POLG2
(F354L)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
+1 more
GUncertain significance
MILR1, POLG2
(R257H)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
+1 more
GUncertain significance
MILR1, POLG2
(R344*)
Single nucleotide variant
(nonsense)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
GUncertain significance
MILR1, POLG2
(R259*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GConflicting classifications of pathogenicity
MILR1, POLG2
(E123K)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
GUncertain significance
MILR1, POLG2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
MILR1, POLG2
(Q250R)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
GUncertain significance
MILR1, POLG2
(S248L)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
+2 more
GUncertain significance
MILR1, POLG2
Single nucleotide variant
(5 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
GBenign
MILR1, POLG2
(R122S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MILR1, POLG2
Single nucleotide variant
(synonymous variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
GUncertain significance
MILR1, POLG2
Single nucleotide variant
(intron variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
GUncertain significance
MILR1, POLG2
(F439L)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
+1 more
GUncertain significance
MILR1, POLG2
Deletion
(nonsense)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
GUncertain significance
MILR1, POLG2
(R225*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
MILR1, POLG2
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MILR1, POLG2
Single nucleotide variant
(5 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
GUncertain significance
MILR1, POLG2
Single nucleotide variant
(5 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
+1 more
GBenign
MILR1, POLG2
Single nucleotide variant
(5 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
GUncertain significance
MILR1, POLG2
Single nucleotide variant
(5 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
GBenign
MILR1, POLG2
(V120M)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
GUncertain significance
MILR1, POLG2
(Q166E)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MILR1, POLG2
(R225Q)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
MILR1, POLG2
Duplication
(intron variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
+5 more
GBenign
MILR1, POLG2
(R182W)
Single nucleotide variant
(missense variant)
Acute liver failure
+1 more
GConflicting classifications of pathogenicity
MILR1, POLG2
(A482S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MILR1, POLG2
(H133Y)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
POLG2, MILR1
(G61R)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
+1 more
GConflicting classifications of pathogenicity
MILR1, POLG2
(D473N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MILR1, POLG2
(L153V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
MILR1, POLG2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
MILR1, POLG2
(G416A)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+3 more
GBenign/Likely benign
MILR1, POLG2
(A169T)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 16 (hepatic type)
+4 more
GBenign
POLG2, MILR1
(L475fs)
Deletion
(frameshift variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
GPathogenic
MILR1, POLG2
(R369G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
POLG2, MILR1
(P205R)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
GPathogenic
MILR1, POLG2
(G451E)
Single nucleotide variant
(missense variant)
POLG2-related disorder
GLikely pathogenic
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