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Links from MedGen

Items: 1 to 100 of 121

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
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease axonal type 2C
+5 more
GUncertain significance
MIR4497, TRPV4
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease axonal type 2C
+5 more
GUncertain significance
TRPV4
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease axonal type 2C
+5 more
GBenign
TRPV4
(R237H +1 more)
Single nucleotide variant
(missense variant +1 more)
Scapuloperoneal spinal muscular atrophy
+6 more
GConflicting classifications of pathogenicity
TRPV4
Single nucleotide variant
(synonymous variant)
Brachyrachia (short spine dysplasia)
+5 more
GConflicting classifications of pathogenicity
TRPV4
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease axonal type 2C
+5 more
GUncertain significance
TRPV4
(P142L +1 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
TRPV4
Single nucleotide variant
(3 prime UTR variant)
Scapuloperoneal spinal muscular atrophy
+5 more
GUncertain significance
MIR4497, TRPV4
Single nucleotide variant
(non-coding transcript variant)
Brachyrachia (short spine dysplasia)
+5 more
GUncertain significance
TRPV4
Single nucleotide variant
(3 prime UTR variant)
Spondylometaphyseal dysplasia, Kozlowski type
+5 more
GUncertain significance
TRPV4
Single nucleotide variant
(3 prime UTR variant)
Scapuloperoneal spinal muscular atrophy
+5 more
GUncertain significance
TRPV4
Single nucleotide variant
(3 prime UTR variant)
Spondylometaphyseal dysplasia, Kozlowski type
+5 more
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal dominant 8
+5 more
GConflicting classifications of pathogenicity
TRPV4
Single nucleotide variant
(3 prime UTR variant)
Spondylometaphyseal dysplasia, Kozlowski type
+5 more
GUncertain significance
TRPV4
Single nucleotide variant
(3 prime UTR variant)
Scapuloperoneal spinal muscular atrophy
+5 more
GUncertain significance
TRPV4
(G168R +1 more)
Single nucleotide variant
(missense variant)
Spondylometaphyseal dysplasia, Kozlowski type
+5 more
GUncertain significance
TRPV4
(R248C +1 more)
Single nucleotide variant
(missense variant +1 more)
Brachyrachia (short spine dysplasia)
+6 more
GConflicting classifications of pathogenicity
TRPV4
(A232V +1 more)
Single nucleotide variant
(missense variant +1 more)
Scapuloperoneal spinal muscular atrophy
+5 more
GUncertain significance
TRPV4
(R693K +4 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, autosomal dominant 8
+5 more
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Scapuloperoneal spinal muscular atrophy
+6 more
GConflicting classifications of pathogenicity
TRPV4
(R34C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+12 more
GUncertain significance
TRPV4
(A489T +4 more)
Single nucleotide variant
(missense variant)
Scapuloperoneal spinal muscular atrophy
+5 more
GConflicting classifications of pathogenicity
TRPV4
(V577M +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
TRPV4
Single nucleotide variant
(synonymous variant)
Spondylometaphyseal dysplasia, Kozlowski type
+7 more
GConflicting classifications of pathogenicity
TRPV4
(D62N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+12 more
GUncertain significance
TRPV4
(T721R +4 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, autosomal dominant 8
+5 more
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Scapuloperoneal spinal muscular atrophy
+6 more
GBenign/Likely benign
TRPV4
(R774C +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
TRPV4
(Y567F +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
+8 more
GConflicting classifications of pathogenicity
TRPV4
(L459R +4 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Maroteaux type
+12 more
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Spondylometaphyseal dysplasia, Kozlowski type
+7 more
GConflicting classifications of pathogenicity
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+9 more
GConflicting classifications of pathogenicity
TRPV4
(R320* +2 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease
+8 more
GConflicting classifications of pathogenicity
TRPV4
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+7 more
GBenign/Likely benign
TRPV4
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+9 more
GBenign/Likely benign
TRPV4
(T175A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+8 more
GConflicting classifications of pathogenicity
TRPV4
(G809S +4 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Maroteaux type
+11 more
GUncertain significance
TRPV4
(P827A +4 more)
Single nucleotide variant
(missense variant)
Spondylometaphyseal dysplasia, Kozlowski type
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
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+7 more
GConflicting classifications of pathogenicity
TRPV4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+7 more
GBenign/Likely benign
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+8 more
GBenign/Likely benign
MIR4497, TRPV4
Single nucleotide variant
(non-coding transcript variant +1 more)
Metatropic dysplasia
+5 more
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant +1 more)
Brachyrachia (short spine dysplasia)
+6 more
GConflicting classifications of pathogenicity
TRPV4
(M69L +1 more)
Single nucleotide variant
(missense variant)
Scapuloperoneal spinal muscular atrophy
+8 more
GConflicting classifications of pathogenicity
TRPV4
(P143T +1 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, autosomal dominant 8
+5 more
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+7 more
GBenign/Likely benign
TRPV4
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+10 more
GBenign/Likely benign
TRPV4
(D208N +1 more)
Single nucleotide variant
(missense variant)
Scapuloperoneal spinal muscular atrophy
+5 more
GUncertain significance
TRPV4
(A217V +1 more)
Single nucleotide variant
(missense variant)
Scapuloperoneal spinal muscular atrophy
+5 more
GConflicting classifications of pathogenicity
TRPV4
(V254M +1 more)
Single nucleotide variant
(missense variant +1 more)
Scapuloperoneal spinal muscular atrophy
+9 more
GBenign/Likely benign
TRPV4
Single nucleotide variant
(intron variant)
Spondylometaphyseal dysplasia, Kozlowski type
+14 more
GBenign/Likely benign
TRPV4
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+7 more
GBenign/Likely benign
TRPV4
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GConflicting classifications of pathogenicity
TRPV4
(V365M +2 more)
Single nucleotide variant
(missense variant)
Scapuloperoneal spinal muscular atrophy
+8 more
GBenign/Likely benign
TRPV4
(R404H +2 more)
Single nucleotide variant
(missense variant +1 more)
Scapuloperoneal spinal muscular atrophy
+6 more
GConflicting classifications of pathogenicity
TRPV4
(A451V +4 more)
Single nucleotide variant
(missense variant)
Scapuloperoneal spinal muscular atrophy
+5 more
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GBenign/Likely benign
TRPV4
Single nucleotide variant
(intron variant)
Scapuloperoneal spinal muscular atrophy
+6 more
GBenign/Likely benign
TRPV4
(M534T +4 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, autosomal dominant 8
+5 more
GUncertain significance
TRPV4
(T599R +4 more)
Single nucleotide variant
(missense variant)
Spondylometaphyseal dysplasia, Kozlowski type
+5 more
GUncertain significance
TRPV4
Single nucleotide variant
(intron variant)
not provided
+8 more
GConflicting classifications of pathogenicity
TRPV4
Single nucleotide variant
(intron variant)
Scapuloperoneal spinal muscular atrophy
+8 more
GBenign/Likely benign
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+9 more
GBenign/Likely benign
TRPV4
(R746G +4 more)
Single nucleotide variant
(missense variant)
Metatropic dysplasia
+5 more
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+6 more
GBenign/Likely benign
TRPV4
Single nucleotide variant
(3 prime UTR variant)
Metatropic dysplasia
+5 more
GUncertain significance
TRPV4
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease axonal type 2C
+5 more
GUncertain significance
TRPV4
Single nucleotide variant
(3 prime UTR variant)
Scapuloperoneal spinal muscular atrophy
+5 more
GUncertain significance
TRPV4
Single nucleotide variant
(3 prime UTR variant)
Spondylometaphyseal dysplasia, Kozlowski type
+5 more
GBenign
TRPV4
Single nucleotide variant
(3 prime UTR variant)
Spondylometaphyseal dysplasia, Kozlowski type
+5 more
GBenign
TRPV4
Single nucleotide variant
(3 prime UTR variant)
Metatropic dysplasia
+5 more
GBenign
TRPV4
Single nucleotide variant
(3 prime UTR variant)
Neuronopathy, distal hereditary motor, autosomal dominant 8
+5 more
GUncertain significance
TRPV4
Single nucleotide variant
(3 prime UTR variant)
Metatropic dysplasia
+6 more
GBenign/Likely benign
TRPV4
Single nucleotide variant
(3 prime UTR variant)
Scapuloperoneal spinal muscular atrophy
+5 more
GBenign
TRPV4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2C
+8 more
GBenign/Likely benign
TRPV4
Single nucleotide variant
(intron variant)
TRPV4-related condition
+9 more
GConflicting classifications of pathogenicity
TRPV4
Single nucleotide variant
(synonymous variant)
Metatropic dysplasia
+8 more
GBenign
TRPV4
Single nucleotide variant
(intron variant)
not specified
+9 more
GBenign
TRPV4
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal dominant 8
+10 more
GBenign/Likely benign
TRPV4
(D854N +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
+6 more
GUncertain significance
TRPV4
(S824L +4 more)
Single nucleotide variant
(missense variant)
Familial digital arthropathy-brachydactyly
+11 more
GUncertain significance
TRPV4
(S134R +1 more)
Single nucleotide variant
(missense variant)
TRPV4-related condition
+8 more
GBenign/Likely benign
TRPV4
(R464C +4 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
TRPV4
(T380M +2 more)
Single nucleotide variant
(missense variant)
Scapuloperoneal spinal muscular atrophy
+7 more
GConflicting classifications of pathogenicity
TRPV4
(G13W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+8 more
GUncertain significance
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+7 more
GBenign/Likely benign
TRPV4
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease
+8 more
GBenign
TRPV4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+8 more
GBenign
TRPV4
(I571M +4 more)
Single nucleotide variant
(missense variant)
TRPV4-related condition
+10 more
GBenign
TRPV4
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, autosomal dominant 8
+8 more
GBenign/Likely benign
TRPV4
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+9 more
GBenign/Likely benign
TRPV4
Single nucleotide variant
(synonymous variant)
Metatropic dysplasia
+10 more
GBenign/Likely benign
TRPV4
(A869T +4 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+8 more
GConflicting classifications of pathogenicity
TRPV4
(L257V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+9 more
GBenign/Likely benign
TRPV4
Single nucleotide variant
(intron variant)
not provided
+8 more
GBenign/Likely benign
TRPV4
(V750I +4 more)
Single nucleotide variant
(missense variant)
not provided
+10 more
GBenign/Likely benign
TRPV4
(I516V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+9 more
GConflicting classifications of pathogenicity
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