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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC25A10
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 19
GUncertain significance
SLC25A10
(P192S)
Single nucleotide variant
(synonymous variant +2 more)
Mitochondrial DNA depletion syndrome 19
GPathogenic
SLC25A10
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
SLC25A10
(P192S)
Single nucleotide variant
(synonymous variant +2 more)
Mitochondrial complex I deficiency
GLikely pathogenic
SLC25A10
(K102*)
Single nucleotide variant
(nonsense)
Mitochondrial complex I deficiency
+1 more
GLikely pathogenic
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