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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR3
(G44S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign
FGFR3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
FGFR3
(S53T)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
FGFR3
(V57M)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign/Likely benign
FGFR3
Single nucleotide variant
(synonymous variant +1 more)
FGFR3-related condition
+1 more
GConflicting classifications of pathogenicity
FGFR3
(P91L)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
FGFR3
(R112Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
FGFR3
(R116C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FGFR3
Single nucleotide variant
(synonymous variant +1 more)
Crouzon syndrome-acanthosis nigricans syndrome
+16 more
GBenign/Likely benign
FGFR3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
FGFR3
Single nucleotide variant
(synonymous variant +1 more)
Connective tissue disorder
+2 more
GBenign
FGFR3
(R200C)
Single nucleotide variant
(missense variant +1 more)
Craniosynostosis syndrome
+4 more
GConflicting classifications of pathogenicity
FGFR3
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign
FGFR3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
FGFR3
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
FGFR3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FGFR3
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign/Likely benign
FGFR3
(R238W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FGFR3
(R248C)
Single nucleotide variant
(missense variant +1 more)
FGFR3-related condition
+32 more
GPathogenic
FGFR3
(P250R)
Single nucleotide variant
(missense variant +1 more)
not provided
+25 more
GPathogenic/Likely pathogenic
FGFR3
(S279C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
FGFR3
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign
FGFR3
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FGFR3
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GBenign/Likely benign
FGFR3
(A352V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
FGFR3
(Y373C +1 more)
Single nucleotide variant
(missense variant +2 more)
Thanatophoric dysplasia type 1
+1 more
GConflicting classifications of pathogenicity
FGFR3
(G380R +1 more)
Single nucleotide variant
(missense variant +2 more)
FGFR3-related condition
+3 more
GPathogenic
FGFR3
(G380R +1 more)
Single nucleotide variant
(missense variant +2 more)
FGFR3-Related Disorders
+18 more
GPathogenic
FGFR3
(F384L +1 more)
Single nucleotide variant
(missense variant +2 more)
Achondroplasia
+16 more
GBenign/Likely benign
FGFR3
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
FGFR3
(P449S +3 more)
Single nucleotide variant
(missense variant +1 more)
Connective tissue disorder
+3 more
GBenign/Likely benign
FGFR3
(T450M +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign/Likely benign
FGFR3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
FGFR3
(K517R +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
FGFR3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
FGFR3
(N540K +3 more)
Single nucleotide variant
(missense variant +1 more)
Carcinoma of colon
+18 more
GPathogenic/Likely pathogenic
FGFR3
(N540K +3 more)
Single nucleotide variant
(missense variant +1 more)
FGFR3-related condition
+4 more
GPathogenic
FGFR3
(V553M +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
FGFR3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
FGFR3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
FGFR3
(G659S)
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GBenign/Likely benign
FGFR3
(A717T +4 more)
Single nucleotide variant
(missense variant +1 more)
FGFR3-related condition
+2 more
GBenign/Likely benign
FGFR3
(R728Q +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
FGFR3
(A736V +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
FGFR3
(P799L +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GConflicting classifications of pathogenicity
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