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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRPV4
(W678R +4 more)
Single nucleotide variant
(missense variant)
Metatropic dysplasia
GLikely pathogenic
TRPV4
(L436R +4 more)
Single nucleotide variant
(missense variant)
Metatropic dysplasia
GLikely pathogenic