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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC25A46
(P119L +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(Q192P +1 more)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance