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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF1A
(S1656fs +15 more)
Duplication
(frameshift variant)
Neuropathy, hereditary sensory, type 2C
+1 more
GPathogenic
KIF1A
(L947fs +3 more)
Deletion
(frameshift variant +1 more)
KIF1A-related condition
+3 more
GPathogenic