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Links from MedGen

Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC25A4
(A150T)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
+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
(D292H)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
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)
not provided
+4 more
GLikely benign
SLC25A4
(R80G)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
GLikely pathogenic
CLCNKB, LOC106501713
(C626Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
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
(R235G)
Single nucleotide variant
(missense variant)
Mitochondrial disease
+1 more
GPathogenic
SLC25A4
(R80H)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
+2 more
GPathogenic
SLC25A4
(T252M)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
+3 more
GUncertain significance
EDNRB, EDNRB-AS1
(S305N +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 2A
+5 more
GConflicting classifications of pathogenicity
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