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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR3
(P250R)
Single nucleotide variant
(missense variant +1 more)
Achondroplasia
+26 more
GPathogenic/Likely pathogenic
FGFR3
(A391E +1 more)
Single nucleotide variant
(missense variant +2 more)
Crouzon syndrome-acanthosis nigricans syndrome
+3 more
GPathogenic
FGFR3
(R327H +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FGFR3
(P461L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+14 more
GUncertain significance
FAM53A, PIGG
+29 more
Complex
Heart, malformation of
GPathogenic
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