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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTO1
(T53fs)
Deletion
(frameshift variant)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
GLikely pathogenic
MTO1
(T308A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
MTO1
(R477H +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
+2 more
GConflicting classifications of pathogenicity
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