NM_130849.4(SLC39A4):c.970_973del (p.Ser324fs)Pathogenic
Hereditary acrodermatitis enteropathica
β
β
ββ2026β Residue 324
NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu)Pathogenic
Hereditary acrodermatitis enteropathica|not provided|SLC39A4-related disorder
β
β
ββ2026β Residue 200
NM_130849.4(SLC39A4):c.475-2A>GPathogenic
not provided|Hereditary acrodermatitis enteropathica
β
β
ββ2026
NM_130849.4(SLC39A4):c.1224del (p.Leu410fs)Pathogenic
not provided|Hereditary acrodermatitis enteropathica
β
β
ββ2026β Residue 410
NM_130849.4(SLC39A4):c.1203G>A (p.Trp401Ter)Pathogenic
not provided|Hereditary acrodermatitis enteropathica
β
β
ββ2026β Residue 401
NM_130849.4(SLC39A4):c.192+19G>APathogenic
not provided|Hereditary acrodermatitis enteropathica
β
β
ββ2025
NM_130849.4(SLC39A4):c.295G>A (p.Ala99Thr)Pathogenic
not provided|Hereditary acrodermatitis enteropathica
β
β
ββ2025β Residue 99
NM_130849.4(SLC39A4):c.976+1G>ALikely pathogenic
not provided|Hereditary acrodermatitis enteropathica
β
β
ββ2025
NM_130849.4(SLC39A4):c.1763G>A (p.Trp588Ter)Pathogenic
not provided|Hereditary acrodermatitis enteropathica
β
β
ββ2025β Residue 588
NM_130849.4(SLC39A4):c.1120G>A (p.Gly374Arg)Likely pathogenic
Hereditary acrodermatitis enteropathica|not provided
β
β
ββ2025β Residue 374
NM_130849.4(SLC39A4):c.1396dup (p.His466fs)Pathogenic
not provided|Hereditary acrodermatitis enteropathica
β
β
ββ2025β Residue 466
NM_130849.4(SLC39A4):c.193-2A>GLikely pathogenic
not provided|Hereditary acrodermatitis enteropathica
β
β
ββ2025
NM_130849.4(SLC39A4):c.89_99del (p.Ser30fs)Pathogenic
not provided|Hereditary acrodermatitis enteropathica
β
β
ββ2025β Residue 30
NM_130849.4(SLC39A4):c.1149+1G>ALikely pathogenic
not provided|Hereditary acrodermatitis enteropathica
β
β
ββ2025
NM_130849.4(SLC39A4):c.283C>T (p.Arg95Cys)Pathogenic
Hereditary acrodermatitis enteropathica|not provided
β
β
ββ2025β Residue 95
NM_130849.4(SLC39A4):c.1287+2T>CLikely pathogenic
not provided|Hereditary acrodermatitis enteropathica
β
β
ββ2025
NM_130849.4(SLC39A4):c.1174_1195del (p.Glu392fs)Pathogenic
not provided|Hereditary acrodermatitis enteropathica
β
β
ββ2024β Residue 392
NM_130849.4(SLC39A4):c.1066dup (p.Val356fs)Pathogenic
not provided|Hereditary acrodermatitis enteropathica
β
β
ββ2024β Residue 356
NM_130849.4(SLC39A4):c.1386del (p.Lys463fs)Pathogenic
not provided|Hereditary acrodermatitis enteropathica
β
β
ββ2024β Residue 463
NM_130849.4(SLC39A4):c.1287+1G>ALikely pathogenic
not provided|Hereditary acrodermatitis enteropathica
β
β
ββ2024