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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRIT1
(I323T +2 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency 35
GUncertain significance
TRIT1
(D97N)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TRIT1, MYCL-AS1
(T22I)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency 35
GUncertain significance
MYCL-AS1, TRIT1
(R8*)
Single nucleotide variant
(nonsense +1 more)
Combined oxidative phosphorylation deficiency 35
+2 more
GPathogenic/Likely pathogenic
MYCL-AS1, TRIT1
(A6T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
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