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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRPV4
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
TRPV4
(E840K +4 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+10 more
GBenign/Likely benign
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+9 more
GConflicting classifications of pathogenicity
TRPV4
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+7 more
GBenign/Likely benign
TRPV4
(V750I +4 more)
Single nucleotide variant
(missense variant)
not provided
+10 more
GBenign/Likely benign
TRPV4
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
TRPV4
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
TRPV4
(V560I +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+3 more
GPathogenic/Likely pathogenic
TRPV4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2C
+8 more
GBenign/Likely benign
TRPV4
(V562I +4 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+9 more
GBenign/Likely benign
TRPV4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+3 more
GBenign
TRPV4
(I516V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+9 more
GConflicting classifications of pathogenicity
TRPV4
Single nucleotide variant
(intron variant)
TRPV4-related condition
+9 more
GConflicting classifications of pathogenicity
TRPV4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign/Likely benign
TRPV4
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TRPV4
(R404H +2 more)
Single nucleotide variant
(missense variant +1 more)
Scapuloperoneal spinal muscular atrophy
+6 more
GConflicting classifications of pathogenicity
TRPV4
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia, Maroteaux type
+13 more
GBenign/Likely benign
TRPV4
Single nucleotide variant
(intron variant)
Connective tissue disorder
+10 more
GBenign/Likely benign
TRPV4
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease axonal type 2C
+7 more
GBenign
TRPV4
(L257V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+9 more
GBenign/Likely benign
TRPV4
(A217S +1 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+10 more
GBenign
TRPV4
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
TRPV4
(P19S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+9 more
GBenign
TRPV4
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+10 more
GBenign/Likely benign
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