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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGF3
(V206fs)
Deletion
(frameshift variant)
Deafness with labyrinthine aplasia, microtia, and microdontia
GPathogenic
FGF3
(S156P)
Single nucleotide variant
(missense variant)
Deafness with labyrinthine aplasia, microtia, and microdontia
GPathogenic
FGF3
(W153fs)
Microsatellite
(frameshift variant)
Deafness with labyrinthine aplasia, microtia, and microdontia
GPathogenic
FGF3
(R132fs)
Deletion
(frameshift variant)
Deafness with labyrinthine aplasia, microtia, and microdontia
Gnot provided
FGF3
(Y106C)
Single nucleotide variant
(missense variant)
Deafness with labyrinthine aplasia, microtia, and microdontia
GPathogenic
FGF3
(R104*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
FGF3
(R95W)
Single nucleotide variant
(missense variant)
FGF3-related condition
+1 more
GPathogenic/Likely pathogenic
FGF3
(I85fs)
Deletion
(frameshift variant)
Deafness with labyrinthine aplasia, microtia, and microdontia
GPathogenic
FGF3, LOC109115964
(G66C)
Single nucleotide variant
(missense variant)
Deafness with labyrinthine aplasia, microtia, and microdontia
GLikely pathogenic
FGF3, LOC109115964
(C50*)
Single nucleotide variant
(nonsense)
Deafness with labyrinthine aplasia, microtia, and microdontia
Gnot provided
FGF3, LOC109115964
(Y49C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC109115964, FGF3
(L6P)
Single nucleotide variant
(missense variant)
Deafness with labyrinthine aplasia, microtia, and microdontia
GPathogenic
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