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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NFU1
(G165R +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple mitochondrial dysfunctions syndrome 1
GLikely pathogenic
NFU1
(R158L +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple mitochondrial dysfunctions syndrome 1
GLikely pathogenic