NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp)Pathogenic
Congenital fibrosis of extraocular muscles type 1|Fibrosis of extraocular muscles, congenital, 3b|not provided|KIF21A-related disorder
β
β
ββ2024β Residue 954
NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln)Pathogenic
Congenital fibrosis of extraocular muscles type 1|Fibrosis of extraocular muscles, congenital, 3b|not provided|Abnormality of eye movement
β
β
ββ2024β Residue 954
NM_001173464.2(KIF21A):c.1991T>C (p.Leu664Pro)Likely pathogenic
not provided|KIF21A-related disorder
β
βββ2025β Residue 664
NM_001173464.2(KIF21A):c.4952G>A (p.Trp1651Ter)Likely pathogenic
not provided
β
βββ2025β Residue 1651
NM_001173464.2(KIF21A):c.2418+1G>ALikely pathogenic
not provided
β
βββ2025
NM_001173464.2(KIF21A):c.2840T>G (p.Met947Arg)Pathogenic
Congenital fibrosis of extraocular muscles type 1|Inborn genetic diseases
β
βββ2024β Residue 947
NM_001173464.2(KIF21A):c.2861G>T (p.Arg954Leu)Likely pathogenic
Congenital fibrosis of extraocular muscles type 1
β
βββ2024β Residue 954
NM_001173464.2(KIF21A):c.706C>T (p.Gln236Ter)Likely pathogenic
Congenital fibrosis of extraocular muscles type 1
β
βββ2023β Residue 236
NM_001173464.2(KIF21A):c.2840T>C (p.Met947Thr)Likely pathogenic
KIF21A-related disorder
β
βββ2023β Residue 947
NM_001173464.2(KIF21A):c.2371del (p.Arg791fs)Pathogenic
Congenital fibrosis of extraocular muscles type 1
β
βββ2023β Residue 791
NM_001173464.2(KIF21A):c.2515C>T (p.Pro839Ser)Likely pathogenic
Congenital fibrosis of extraocular muscles type 1
β
βββ2021β Residue 839
NM_001173464.2(KIF21A):c.2841G>A (p.Met947Ile)Pathogenic
Fibrosis of extraocular muscles, congenital, 3b
ββββ2004β Residue 947
NM_001173464.2(KIF21A):c.2839A>G (p.Met947Val)Pathogenic
Congenital fibrosis of extraocular muscles type 1
ββββ2003β Residue 947
NM_001173464.2(KIF21A):c.3029T>C (p.Ile1010Thr)Pathogenic
Congenital fibrosis of extraocular muscles type 1
ββββ2003β Residue 1010
NM_001173464.2(KIF21A):c.1067T>C (p.Met356Thr)Pathogenic
Congenital fibrosis of extraocular muscles type 1
ββββ2003β Residue 356