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Links from MedGen

Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC25A4
(R236C)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
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
+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
+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
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)
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
(synonymous variant)
SLC25A4-related disorder
+4 more
GLikely benign
SLC25A4
(G172V)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
+1 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)
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)
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
(R236P)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
GPathogenic
SLC25A4
(Q39fs)
Deletion
(frameshift variant)
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
GPathogenic
SLC25A4
(Q175fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
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
(splice donor variant)
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
GPathogenic
SLC25A4
(A123D)
Single nucleotide variant
(missense variant)
Progressive sensorineural hearing impairment
+9 more
GPathogenic/Likely pathogenic
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