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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGF3, LOC109115964
(G66C)
Single nucleotide variant
(missense variant)
Deafness with labyrinthine aplasia, microtia, and microdontia
GPathogenic
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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