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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDUFAF5, LOC130065433
(R9G)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
LOC130065433, NDUFAF5
Single nucleotide variant
(synonymous variant +2 more)
Mitochondrial complex 1 deficiency, nuclear type 16
+2 more
GConflicting classifications of pathogenicity
NDUFAF5
Microsatellite
(intron variant)
not provided
+1 more
GBenign/Likely benign
NDUFAF5
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
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