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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BOLA3
(K106R)
Single nucleotide variant
(synonymous variant +1 more)
Multiple mitochondrial dysfunctions syndrome 2
GUncertain significance
BOLA3
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
BOLA3
(F44C)
Single nucleotide variant
(missense variant)
Multiple mitochondrial dysfunctions syndrome 2
GUncertain significance
BOLA3
(F26L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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