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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COQ8A
(S95fs)
Deletion
(frameshift variant)
Coenzyme Q10 deficiency, primary, 1
GLikely pathogenic
COQ8A
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign