NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys)Pathogenic
Autosomal recessive congenital ichthyosis 2|Ichthyosis|not provided|Lamellar ichthyosis|Ichthyosis and erythrokeratoderma
★★☆☆2026→ Residue 521
NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp)Pathogenic
Autosomal recessive congenital ichthyosis 2|not provided
★★☆☆2026→ Residue 114
NM_001139.3(ALOX12B):c.242del (p.Pro81fs)Pathogenic
not provided
★★☆☆2026→ Residue 81
NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu)Pathogenic
not provided|Autosomal recessive congenital ichthyosis 2|Lamellar ichthyosis|Ichthyosis and erythrokeratoderma
★★☆☆2026→ Residue 597
NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter)Pathogenic
Autosomal recessive congenital ichthyosis 2|not provided
★★☆☆2026→ Residue 432
NM_001139.3(ALOX12B):c.1654+3A>GPathogenic
Autosomal recessive congenital ichthyosis 2|not provided|Ichthyosis and erythrokeratoderma
★★☆☆2026
NM_001139.3(ALOX12B):c.799dup (p.Gln267fs)Pathogenic
not provided|Autosomal recessive congenital ichthyosis 2
★★☆☆2025→ Residue 267
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp)Pathogenic
Autosomal recessive congenital ichthyosis 2|not provided|Congenital ichthyosiform erythroderma;Congenital nonbullous ichthyosiform erythroderma|Lamellar ichthyosis
★★☆☆2025→ Residue 548
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met)Pathogenic
Autosomal recessive congenital ichthyosis 2|not provided|Ichthyosis and erythrokeratoderma
★★☆☆2025→ Residue 527
NM_001139.3(ALOX12B):c.71T>C (p.Leu24Pro)Pathogenic
Autosomal recessive congenital ichthyosis 2|Lamellar ichthyosis|not provided
★★☆☆2025→ Residue 24
NM_001139.3(ALOX12B):c.1463G>A (p.Arg488His)Pathogenic
Autosomal recessive congenital ichthyosis 2|Lamellar ichthyosis|ALOX12B-related disorder|not provided
★★☆☆2025→ Residue 488
NM_001139.3(ALOX12B):c.1272dup (p.Lys425fs)Pathogenic
Autosomal recessive congenital ichthyosis 2|not provided|Lamellar ichthyosis
★★☆☆2025→ Residue 425
NM_001139.3(ALOX12B):c.1654G>T (p.Gly552Cys)Pathogenic
Lamellar ichthyosis|not provided
★★☆☆2025→ Residue 552
NM_001139.3(ALOX12B):c.1163C>T (p.Ala388Val)Pathogenic
not provided|Autosomal recessive congenital ichthyosis 2
★★☆☆2025→ Residue 388
NM_001139.3(ALOX12B):c.1350dup (p.Leu451fs)Pathogenic
Autosomal recessive congenital ichthyosis 2|not provided
★★☆☆2024→ Residue 451
NM_001139.3(ALOX12B):c.928-2A>GPathogenic
not provided|Lamellar ichthyosis
★★☆☆2024
NM_001139.3(ALOX12B):c.1192C>T (p.His398Tyr)Likely pathogenic
Autosomal recessive congenital ichthyosis 2|Lamellar ichthyosis|See cases
★★☆☆2024→ Residue 398
NM_001139.3(ALOX12B):c.1625_1626del (p.Lys542fs)Pathogenic
Autosomal recessive congenital ichthyosis 2|not provided
★★☆☆2024→ Residue 542
NM_001139.3(ALOX12B):c.1265C>T (p.Pro422Leu)Pathogenic
Autosomal recessive congenital ichthyosis 2|not provided
★★☆☆2024→ Residue 422
NM_001139.3(ALOX12B):c.1926+1G>APathogenic
not provided|Lamellar ichthyosis|Autosomal recessive congenital ichthyosis 2
★★☆☆2024