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Links from Gene

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTO1
Deletion
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
GPathogenic
MTO1
Deletion
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
GPathogenic
MTO1
(R546T +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
GUncertain significance
MTO1
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
GUncertain significance
MTO1
Single nucleotide variant
(5 prime UTR variant)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
GUncertain significance
MTO1
(R328C)
Single nucleotide variant
(missense variant)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
GUncertain significance
MTO1
(R131K)
Single nucleotide variant
(missense variant)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
GUncertain significance
MTO1
(D479G +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
GUncertain significance
MTO1
(T53fs)
Deletion
(frameshift variant)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
GLikely pathogenic
MTO1
(T421K)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
GUncertain significance
MTO1
Single nucleotide variant
(intron variant +1 more)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
GUncertain significance
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