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Links from MedGen

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGF3, LOC109115964
(Y36H)
Single nucleotide variant
(missense variant)
Deafness with labyrinthine aplasia, microtia, and microdontia
GUncertain significance
FGF3
(G90fs)
Deletion
(frameshift variant)
Deafness with labyrinthine aplasia, microtia, and microdontia
GLikely pathogenic
FGF3, LOC109115964
(R46P)
Single nucleotide variant
(missense variant)
Deafness with labyrinthine aplasia, microtia, and microdontia
GUncertain significance
FGF3
(L105H)
Single nucleotide variant
(missense variant)
Deafness with labyrinthine aplasia, microtia, and microdontia
GLikely pathogenic
FGF3
Single nucleotide variant
(splice acceptor variant)
Deafness with labyrinthine aplasia, microtia, and microdontia
GUncertain significance
FGF3
(G90V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FGF3
(R144fs)
Deletion
(frameshift variant)
Deafness with labyrinthine aplasia, microtia, and microdontia
GLikely pathogenic
FGF3, LOC109115964
(L56F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FGF3
(Y154*)
Single nucleotide variant
(nonsense)
Deafness with labyrinthine aplasia, microtia, and microdontia
GLikely pathogenic
FGF3, LOC109115964
(G34C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FGF3
(L91fs)
Duplication
(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
(R95W)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
FGF3, LOC109115964
(C50*)
Single nucleotide variant
(nonsense)
Deafness with labyrinthine aplasia, microtia, and microdontia
Gnot provided
FGF3
(W153fs)
Microsatellite
(frameshift variant)
Deafness with labyrinthine aplasia, microtia, and microdontia
GPathogenic
FGF3
(Y106C)
Single nucleotide variant
(missense variant)
Deafness with labyrinthine aplasia, microtia, and microdontia
GPathogenic
FGF3, LOC109115964
(Y49C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FGF3
(I85fs)
Deletion
(frameshift variant)
Deafness with labyrinthine aplasia, microtia, and microdontia
GPathogenic
LOC109115964, FGF3
(L6P)
Single nucleotide variant
(missense 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
(V206fs)
Deletion
(frameshift variant)
Deafness with labyrinthine aplasia, microtia, and microdontia
GPathogenic
FGF3
(R104*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
FGF3
(S156P)
Single nucleotide variant
(missense variant)
Deafness with labyrinthine aplasia, microtia, and microdontia
GPathogenic
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