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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB33A, AIFM1
(A214V +2 more)
Single nucleotide variant
(missense variant +2 more)
Tip-toe gait
GLikely pathogenic
AIFM1, RAB33A
(R459I +2 more)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth Neuropathy X
+3 more
GConflicting classifications of pathogenicity
AIFM1, RAB33A
(N186D +1 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency
+2 more
GConflicting classifications of pathogenicity
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