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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRPV4
(F273L +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial digital arthropathy-brachydactyly
GPathogenic
TRPV4
(R271P +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial digital arthropathy-brachydactyly
GPathogenic
TRPV4
(G270V +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial digital arthropathy-brachydactyly
GPathogenic
TRPV4
(R269H +1 more)
Single nucleotide variant
(missense variant +1 more)
Avascular necrosis of femoral head, primary, 2
+14 more
GPathogenic/Likely pathogenic
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