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Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR3
(R248C)
Single nucleotide variant
(missense variant +1 more)
FGFR3-related condition
+32 more
GPathogenic
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
(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
+2 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)
Inborn genetic diseases
+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)
Skeletal dysplasia
+1 more
Gnot provided
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)
Metatropic dysplasia
+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
(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
(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
(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
(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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