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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR3
(R248C)
Single nucleotide variant
(missense variant +1 more)
FGFR3-related chondrodysplasia
+32 more
GPathogenic
FGFR3
(S249C)
Single nucleotide variant
(missense variant +1 more)
Connective tissue disorder
+17 more
GPathogenic
OOncogenic
FGFR3
(G370C +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GPathogenic
FGFR3
(S371C +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+2 more
GConflicting classifications of pathogenicity
FGFR3
(Y373C +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FGFR3
(G380R +1 more)
Single nucleotide variant
(missense variant +2 more)
FGFR3-Related Disorders
+18 more
GPathogenic
FGFR3
(N540K +3 more)
Single nucleotide variant
(missense variant +1 more)
Connective tissue disorder
+18 more
GPathogenic/Likely pathogenic
FGFR3
(K650E +3 more)
Single nucleotide variant
(missense variant +1 more)
Thanatophoric dysplasia
+4 more
GPathogenic
FGFR3
(K650T +3 more)
Single nucleotide variant
(missense variant +1 more)
Crouzon syndrome-acanthosis nigricans syndrome
+16 more
GPathogenic
FGFR3
(K650M +3 more)
Single nucleotide variant
(missense variant +1 more)
Achondroplasia
+14 more
GPathogenic
FGFR3
(V784A)
Single nucleotide variant
(stop lost +2 more)
Thanatophoric dysplasia
GLikely pathogenic
FGFR3
(V784E)
Single nucleotide variant
(stop lost +2 more)
Achondroplasia
+14 more
GPathogenic
FGFR3
(V784G)
Single nucleotide variant
(stop lost +2 more)
not provided
GPathogenic
FGFR3
Single nucleotide variant
(stop lost +2 more)
Crouzon syndrome-acanthosis nigricans syndrome
+14 more
GPathogenic
FGFR3
(K785E)
Single nucleotide variant
(stop lost +2 more)
Thanatophoric dysplasia type 1
+1 more
GPathogenic/Likely pathogenic
FGFR3
(K785Q)
Single nucleotide variant
(stop lost +2 more)
not provided
GPathogenic
FGFR3
(K785*)
Single nucleotide variant
(stop lost +2 more)
FGFR3-related condition
GPathogenic
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