U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR3
(P250R)
Single nucleotide variant
(missense variant +1 more)
Hypochondroplasia
+26 more
GPathogenic/Likely pathogenic
FGFR3
(G380R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+18 more
GPathogenic
FGFR3
(N540K +3 more)
Single nucleotide variant
(missense variant +1 more)
FGFR3-related disorder
+4 more
GPathogenic
FGFR3
(D529I +3 more)
Indel
(missense variant +1 more)
Hypochondroplasia
GUncertain significance
FGFR3
(D529V +3 more)
Single nucleotide variant
(missense variant +1 more)
Hypochondroplasia
GUncertain significance
Format
Sort by
Choose Destination