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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC25A46
(Q92fs)
Deletion
(frameshift variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
+2 more
GConflicting classifications of pathogenicity
SLC25A46
(Y295* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
GUncertain significance