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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRMT10C
(V259fs)
Microsatellite
(frameshift variant)
Combined oxidative phosphorylation defect type 30
+2 more
GConflicting classifications of pathogenicity
TRMT10C
(T272A)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 30
+1 more
GPathogenic
TRMT10C
(R181L)
Single nucleotide variant
(missense variant)
See cases
+1 more
GConflicting classifications of pathogenicity
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