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Items: 52

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
(P692L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GPathogenic
TRPV4
(P739S +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
(C670Y +3 more)
Single nucleotide variant
(missense variant)
Skeletal dysplasia
Gnot provided
TRPV4
(T706I +3 more)
Single nucleotide variant
(missense variant)
Metatropic dysplasia
GPathogenic
TRPV4
(W626* +3 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GUncertain significance
TRPV4
(A656S +3 more)
Single nucleotide variant
(missense variant)
Spondylometaphyseal dysplasia, Kozlowski type
GPathogenic
TRPV4
(L602M +3 more)
Single nucleotide variant
(missense variant)
Skeletal dysplasia
Gnot provided
TRPV4
(M591I +3 more)
Single nucleotide variant
(missense variant)
Skeletal dysplasia
Gnot provided
TRPV4
(V560I +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+3 more
GPathogenic/Likely pathogenic
TRPV4
(L584P +3 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
TRPV4
(F510L +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TRPV4
(R509Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
TRPV4
(I497M +3 more)
Single nucleotide variant
(missense variant)
Skeletal dysplasia
Gnot provided
TRPV4
(Y495C +3 more)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Maroteaux type
GPathogenic
TRPV4
(G540W +3 more)
Single nucleotide variant
(missense variant)
Skeletal dysplasia
Gnot provided
TRPV4
(L562P +3 more)
Single nucleotide variant
(missense variant)
Skeletal dysplasia
Gnot provided
TRPV4
(R534H +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
TRPV4
(F558L +3 more)
Single nucleotide variant
(missense variant)
Skeletal dysplasia
Gnot provided
TRPV4
(Y544C +3 more)
Single nucleotide variant
(missense variant)
Neuromuscular disease
+1 more
Gnot provided
TRPV4
(Y520* +3 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GUncertain significance
TRPV4
(S435Y +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GPathogenic
TRPV4
Duplication
(inframe_insertion)
Skeletal dysplasia
Gnot provided
TRPV4
(F471del +4 more)
Deletion
(inframe_deletion)
Skeletal dysplasia and progressive central nervous system degeneration, lethal
+2 more
GPathogenic/Likely pathogenic
TRPV4
(K373E +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2C
+1 more
GPathogenic
TRPV4
(V342F +2 more)
Single nucleotide variant
(missense variant)
Skeletal dysplasia
Gnot provided
TRPV4
(D333G +2 more)
Single nucleotide variant
(missense variant)
Spondylometaphyseal dysplasia, Kozlowski type
GPathogenic
TRPV4
(I331T +2 more)
Single nucleotide variant
(missense variant)
Skeletal dysplasia
GLikely pathogenic
TRPV4
(I331F +2 more)
Single nucleotide variant
(missense variant)
Metatropic dysplasia
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
(T295A +2 more)
Single nucleotide variant
(missense variant)
Skeletal dysplasia
Gnot provided
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
(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)
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
(Q239H +1 more)
Single nucleotide variant
(missense variant +1 more)
Skeletal dysplasia
Gnot provided
TRPV4
(R232C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+2 more
GPathogenic
TRPV4
(E218K +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
TRPV4
(A217S +1 more)
Single nucleotide variant
(missense variant)
TRPV4-related condition
+10 more
GBenign
TRPV4
(L199F +1 more)
Single nucleotide variant
(missense variant)
Skeletal dysplasia
Gnot provided
TRPV4
(K197R +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(R186Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
TRPV4
(E183K +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
GUncertain significance
TRPV4
(T89I +1 more)
Single nucleotide variant
(missense variant)
TRPV4-related condition
GPathogenic
TRPV4
(G78W +1 more)
Single nucleotide variant
(missense variant)
Metatropic dysplasia
GPathogenic
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