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Links from MedGen

Items: 80

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC25A4
(G16D)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
(K263E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC25A4
(R111S)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
+3 more
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
+2 more
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
+2 more
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
+2 more
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
+2 more
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GBenign
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
LOC129993501, SLC25A4
Single nucleotide variant
(5 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
+2 more
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
+2 more
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
+2 more
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GBenign
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
+2 more
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
SLC25A4-related disorder
+4 more
GLikely benign
SLC25A4
(D248N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
+2 more
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
+2 more
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GBenign
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GBenign
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GBenign
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
+2 more
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
+2 more
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GBenign
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GBenign
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GBenign
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GBenign
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GBenign
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GBenign
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GBenign
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GBenign
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
+2 more
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GBenign
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GBenign
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GBenign
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GBenign
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
+2 more
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GBenign
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GBenign
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GBenign
SLC25A4
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
SLC25A4
(E265K)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
+1 more
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
+2 more
GBenign/Likely benign
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC25A4
Single nucleotide variant
(synonymous variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GLikely benign
LOC129993501, SLC25A4
Single nucleotide variant
(5 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GUncertain significance
LOC129993501, SLC25A4
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
LOC129993501, SLC25A4
Single nucleotide variant
(5 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GBenign
SLC25A4
(T252M)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
+3 more
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
+2 more
GBenign
SLC25A4
Single nucleotide variant
(5 prime UTR variant)
not specified
+2 more
GBenign
SLC25A4
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
SLC25A4
(A123D)
Single nucleotide variant
(missense variant)
Progressive sensorineural hearing impairment
+9 more
GPathogenic/Likely pathogenic
SLC25A4
(D104G)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GPathogenic
SLC25A4
(L98P)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GPathogenic
SLC25A4
(V289M)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GPathogenic
SLC25A4
(A114P)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
GPathogenic
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