NM_005247.4(FGF3):c.45del (p.Trp16fs)Pathogenic
not provided|FGF3-related disorder|Deafness with labyrinthine aplasia, microtia, and microdontia
β
β
ββ2025β Residue 16
NM_005247.4(FGF3):c.625C>T (p.Arg209Ter)Pathogenic
not provided|Deafness with labyrinthine aplasia, microtia, and microdontia
β
β
ββ2025β Residue 209
NM_005247.4(FGF3):c.283C>T (p.Arg95Trp)Pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia|not provided|FGF3-related disorder
β
β
ββ2025β Residue 95
NM_005247.4(FGF3):c.310C>T (p.Arg104Ter)Pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia|not provided|FGF3-related disorder
β
β
ββ2024β Residue 104
NM_005247.4(FGF3):c.2T>G (p.Met1Arg)Pathogenic
not provided
β
βββ2025β Residue 1
NM_005247.4(FGF3):c.470T>C (p.Val157Ala)Likely pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
β
βββ2025β Residue 157
NM_005247.4(FGF3):c.517C>T (p.Gln173Ter)Likely pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
β
βββ2025β Residue 173
NM_005247.4(FGF3):c.220+1G>ALikely pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
β
βββ2025
NM_005247.4(FGF3):c.63del (p.Ala23fs)Pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
β
βββ2025β Residue 23
NM_005247.4(FGF3):c.318T>A (p.Tyr106Ter)Pathogenic
not provided
β
βββ2024β Residue 106
NM_005247.4(FGF3):c.196G>T (p.Gly66Cys)Likely pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
β
βββ2024β Residue 66
NM_005247.4(FGF3):c.355G>T (p.Glu119Ter)Pathogenic
not provided
β
βββ2023β Residue 119
NM_005247.4(FGF3):c.221-1G>CLikely pathogenic
not provided
β
βββ2022
NM_005247.4(FGF3):c.269del (p.Gly90fs)Likely pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
β
βββ2022β Residue 90
NM_005247.4(FGF3):c.431del (p.Arg144fs)Likely pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
β
βββ2022β Residue 144
NM_005247.4(FGF3):c.284G>A (p.Arg95Gln)Likely pathogenic
Hearing impairment
β
βββ2019β Residue 95
NM_005247.4(FGF3):c.265del (p.Arg89fs)Likely pathogenic
FGF3-related disorder
ββββ2024β Residue 89
NM_005247.4(FGF3):c.462C>G (p.Tyr154Ter)Likely pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
ββββ2019β Residue 154
NM_005247.4(FGF3):c.270dup (p.Leu91fs)Pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
ββββ2016β Residue 91
NM_005247.4(FGF3):c.317A>G (p.Tyr106Cys)Pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
ββββ2011β Residue 106