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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRPV4
(R30* +1 more)
Single nucleotide variant
(nonsense)
Spondylometaphyseal dysplasia, Kozlowski type
+10 more
GUncertain significance
TRPV4
(R34C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+12 more
GUncertain significance
TRPV4
(D62N +1 more)
Single nucleotide variant
(missense variant)
Brachyrachia (short spine dysplasia)
+12 more
GUncertain significance
TRPV4
(L459R +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
+12 more
GConflicting classifications of pathogenicity
TRPV4
(G809S +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
+11 more
GUncertain significance
TRPV4
(T190M +1 more)
Single nucleotide variant
(missense variant)
Parastremmatic dwarfism
+11 more
GUncertain significance
TRPV4
(S659L +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+13 more
GConflicting classifications of pathogenicity
TRPV4
(R781fs +9 more)
Deletion
(frameshift variant +1 more)
Avascular necrosis of femoral head, primary, 2
GPathogenic
TRPV4
Single nucleotide variant
(intron variant)
not provided
+14 more
GBenign/Likely benign
TRPV4
(S824L +4 more)
Single nucleotide variant
(missense variant)
Familial digital arthropathy-brachydactyly
+11 more
GUncertain significance
TRPV4
Single nucleotide variant
(intron variant)
not specified
+13 more
GBenign/Likely benign
TRPV4
(R269H +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+14 more
GPathogenic/Likely pathogenic
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