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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRPV4
(M482T +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(R269H +1 more)
Single nucleotide variant
(missense variant +1 more)
TRPV4-related bone disorder
+14 more
GPathogenic/Likely pathogenic