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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTC19
(Q195* +1 more)
Single nucleotide variant
(nonsense)
Mitochondrial complex III deficiency nuclear type 2
+1 more
GPathogenic/Likely pathogenic
TTC19
(E273* +1 more)
Single nucleotide variant
(nonsense)
Mitochondrial complex III deficiency nuclear type 2
GPathogenic