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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP5MC3
(P107A)
Single nucleotide variant
(missense variant +1 more)
Dystonia, early-onset, and/or spastic paraplegia
GPathogenic
ATP5MC3
(N106K)
Single nucleotide variant
(missense variant +1 more)
ATP5G3-associated disorder
GLikely pathogenic
ATP5MC3
(G79V)
Single nucleotide variant
(missense variant)
Dystonia, early-onset, and/or spastic paraplegia
GPathogenic
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