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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRMT5
(F84L +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 26
+1 more
GUncertain significance
LOC130055775, TRMT5
Single nucleotide variant
(5 prime UTR variant +1 more)
Combined oxidative phosphorylation defect type 26
GUncertain significance