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Links from Gene

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR3
(L340P)
Single nucleotide variant
(missense variant +2 more)
FGFR3-related CATSHL syndrome
GUncertain significance
FGFR3
(R30H)
Single nucleotide variant
(missense variant +1 more)
Achondroplasia
GUncertain significance
FGFR3
(V266A)
Single nucleotide variant
(missense variant +1 more)
Achondroplasia
GUncertain significance
FGFR3
(P283S)
Single nucleotide variant
(missense variant +1 more)
Lacrimoauriculodentodigital syndrome 2
GUncertain significance
FGFR3
(R327C +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FGFR3
(R252W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FGFR3
(K319N)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
FGFR3
(Y305C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FGFR3
(E58Q)
Single nucleotide variant
(missense variant +1 more)
Autism spectrum disorder
GLikely benign
FGFR3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
FGFR3
(G313C)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
FGFR3
Single nucleotide variant
(intron variant)
Cervical cancer
GUncertain significance
FGFR3
(T694M +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
FGFR3
(M1I)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
FGFR3
(R359*)
Single nucleotide variant
(nonsense +2 more)
not provided
GUncertain significance
FGFR3
(Q485R +3 more)
Single nucleotide variant
(missense variant +1 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
FGFR3
(Y648S +3 more)
Single nucleotide variant
(missense variant +1 more)
Acanthosis nigricans
GLikely pathogenic
FGFR3
(Y648F +3 more)
Single nucleotide variant
(missense variant +1 more)
Carcinoma
GLikely pathogenic
FGFR3
(G697C +4 more)
Single nucleotide variant
(missense variant +1 more)
Carcinoma
+1 more
GLikely pathogenic
FGFR3
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
FGFR3
Single nucleotide variant
(intron variant)
not specified
GLikely benign
FGFR3
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
FGFR3
(Q256H)
Single nucleotide variant
(missense variant +1 more)
not specified
Gnot provided
FGFR3
(R200L)
Single nucleotide variant
(missense variant +1 more)
not specified
Gnot provided
FGFR3
(S100C)
Single nucleotide variant
(missense variant +1 more)
not specified
Gnot provided
FGFR3
(S21Y)
Single nucleotide variant
(missense variant +1 more)
not specified
Gnot provided
FGFR3
(R712H +3 more)
Single nucleotide variant
(missense variant +2 more)
Sarcoma
Gnot provided
FGFR3
(G710V +3 more)
Single nucleotide variant
(missense variant +2 more)
Neoplasm of ovary
Gnot provided
FGFR3
(F636L +3 more)
Single nucleotide variant
(missense variant +1 more)
Sarcoma
Gnot provided
FGFR3
(N328I)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
FGFR3
Translocation
Multiple myeloma
GPathogenic
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