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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC25A46
(R257Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely pathogenic
SLC25A46
(A238P +2 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance