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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRPV4
(D622N +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TRPV4
(K293fs +2 more)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance