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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC113788297, NDUFAF6
(M33V)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
NDUFAF6
(N128S +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
NDUFAF6
(F230L +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NDUFAF6
Single nucleotide variant
(intron variant)
Mitochondrial complex 1 deficiency, nuclear type 17
+3 more
GUncertain significance
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