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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRPV4
(P692fs +4 more)
Deletion
(frameshift variant)
Spondyloepimetaphyseal dysplasia, Maroteaux type
GPathogenic
TRPV4
(P752R +3 more)
Single nucleotide variant
(missense variant)
Metatropic dysplasia
GPathogenic
TRPV4
(E690K +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
TRPV4
(T706I +3 more)
Single nucleotide variant
(missense variant)
Metatropic dysplasia
GPathogenic
TRPV4
(V560I +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+3 more
GPathogenic/Likely pathogenic
TRPV4
(R534H +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
TRPV4
(Y544C +3 more)
Single nucleotide variant
(missense variant)
Neuromuscular disease
+1 more
Gnot provided
TRPV4
(S435Y +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GPathogenic
TRPV4
(R316H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TRPV4
(R316C +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
TRPV4
(R315W +2 more)
Single nucleotide variant
(missense variant)
TRPV4-related condition
+5 more
GPathogenic/Likely pathogenic
TRPV4
(E278K +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2C
GPathogenic
TRPV4
(K276E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
TRPV4
(R269H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+14 more
GPathogenic/Likely pathogenic
TRPV4
(R269C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
TRPV4
(R232C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+2 more
GPathogenic
TRPV4
(A217S +1 more)
Single nucleotide variant
(missense variant)
TRPV4-related condition
+10 more
GBenign
TRPV4
(R186Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
TRPV4
(G78W +1 more)
Single nucleotide variant
(missense variant)
Metatropic dysplasia
GPathogenic
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