NM_173483.4(CYP4F22):c.1303C>T (p.His435Tyr)Pathogenic
Autosomal recessive congenital ichthyosis 5|not provided|Lamellar ichthyosis
β
β
ββ2026β Residue 435
NM_173483.4(CYP4F22):c.296G>A (p.Trp99Ter)Pathogenic
Autosomal recessive congenital ichthyosis 5|not provided
β
β
ββ2025β Residue 99
NM_173483.4(CYP4F22):c.727C>T (p.Arg243Cys)Pathogenic
Autosomal recessive congenital ichthyosis 5|not provided|Lamellar ichthyosis
β
β
ββ2025β Residue 243
NM_173483.4(CYP4F22):c.1114C>T (p.Arg372Trp)Likely pathogenic
Autosomal recessive congenital ichthyosis 5|Lamellar ichthyosis
β
β
ββ2025β Residue 372
NM_173483.4(CYP4F22):c.1084C>T (p.Arg362Ter)Pathogenic
not provided|Autosomal recessive congenital ichthyosis 5|Lamellar ichthyosis
β
β
ββ2025β Residue 362
NM_173483.4(CYP4F22):c.223-10C>GLikely pathogenic
not provided
β
β
ββ2025
NM_173483.4(CYP4F22):c.466C>T (p.Arg156Cys)Pathogenic
Autosomal recessive congenital ichthyosis 5|not provided
β
β
ββ2025β Residue 156
NM_173483.4(CYP4F22):c.59dup (p.Ile21fs)Pathogenic
not provided|Autosomal recessive congenital ichthyosis 5
β
β
ββ2024β Residue 21
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu)Pathogenic
Autosomal recessive congenital ichthyosis 5|CYP4F22-related disorder|not provided|Lamellar ichthyosis
β
β
ββ2024β Residue 59
NM_173483.4(CYP4F22):c.1085G>A (p.Arg362Gln)Pathogenic
Autosomal recessive congenital ichthyosis 5|Lamellar ichthyosis
β
β
ββ2024β Residue 362
NM_173483.4(CYP4F22):c.976C>T (p.Arg326Ter)Pathogenic
not provided|Autosomal recessive congenital ichthyosis 5
β
β
ββ2024β Residue 326
NM_173483.4(CYP4F22):c.429dup (p.Leu144fs)Pathogenic
Autosomal recessive congenital ichthyosis 5|Lamellar ichthyosis
β
β
ββ2023β Residue 144
NM_173483.4(CYP4F22):c.728G>A (p.Arg243His)Pathogenic
Autosomal recessive congenital ichthyosis 5|Lamellar ichthyosis
β
β
ββ2022β Residue 243
NM_173483.4(CYP4F22):c.982G>A (p.Glu328Lys)Likely pathogenic
Lamellar ichthyosis
β
βββ2025β Residue 328
NM_173483.4(CYP4F22):c.1419-1G>ALikely pathogenic
not provided
β
βββ2025
NM_173483.4(CYP4F22):c.1207_1208del (p.Thr403fs)Pathogenic
Lamellar ichthyosis
β
βββ2025β Residue 403
NM_173483.4(CYP4F22):c.242G>A (p.Gly81Asp)Pathogenic
Autosomal recessive congenital ichthyosis 5|Lamellar ichthyosis
β
βββ2025β Residue 81
NM_173483.4(CYP4F22):c.667C>T (p.Gln223Ter)Pathogenic
Autosomal recessive congenital ichthyosis 5|not provided
β
βββ2025β Residue 223
NM_173483.4(CYP4F22):c.844C>T (p.Arg282Trp)Pathogenic
Autosomal recessive congenital ichthyosis 5|Lamellar ichthyosis
β
βββ2024β Residue 282
NM_173483.4(CYP4F22):c.922dup (p.Val308fs)Likely pathogenic
Autosomal recessive congenital ichthyosis 5
β
βββ2024β Residue 308