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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AIFM1, RAB33A
(P205L +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Charcot-Marie-Tooth Neuropathy X
+2 more
GUncertain significance
AIFM1, RAB33A
(V223A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RAB33A, AIFM1
(E47D)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency
+4 more
GConflicting classifications of pathogenicity
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