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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SURF1
(G205E +1 more)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
SURF1
Deletion
(5 prime UTR variant +1 more)
See cases
+1 more
GLikely pathogenic
SURF1
(L105fs)
Insertion
(5 prime UTR variant +1 more)
Cytochrome-c oxidase deficiency disease
+3 more
GPathogenic/Likely pathogenic
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