NM_001611.5(ACP5):c.738C>A (p.Tyr246Ter)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation|not provided
β
β
ββ2025β Residue 246
NM_001611.5(ACP5):c.643G>A (p.Gly215Arg)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation|not provided
β
β
ββ2025β Residue 215
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation|Inborn genetic diseases|ACP5-related disorder
β
β
ββ2025β Residue 109
NM_001611.5(ACP5):c.799del (p.Ser267fs)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation|ACP5-related disorder
β
β
ββ2024β Residue 267
NM_001611.5(ACP5):c.526C>T (p.Arg176Ter)Pathogenic
Inborn genetic diseases|Spondyloenchondrodysplasia with immune dysregulation
β
β
ββ2024β Residue 176
NM_001611.5(ACP5):c.772_790del (p.Ser258fs)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β
β
ββ2024β Residue 258
NM_001611.5(ACP5):c.369C>A (p.Tyr123Ter)Pathogenic
not provided|Spondyloenchondrodysplasia with immune dysregulation
β
β
ββ2024β Residue 123
NM_001611.5(ACP5):c.721G>A (p.Asp241Asn)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β
βββ2025β Residue 241
NM_001611.5(ACP5):c.765C>G (p.Tyr255Ter)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β
βββ2025β Residue 255
NM_001611.5(ACP5):c.71dup (p.Ala25fs)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β
βββ2025β Residue 25
NM_001611.5(ACP5):c.550C>T (p.Gln184Ter)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β
βββ2025β Residue 184
NM_001611.5(ACP5):c.372dup (p.Lys125Ter)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β
βββ2025β Residue 125
NM_001611.5(ACP5):c.566del (p.Lys189fs)Likely pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β
βββ2025β Residue 189
NM_001611.5(ACP5):c.618C>A (p.Tyr206Ter)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β
βββ2025β Residue 206
NM_001611.5(ACP5):c.712T>C (p.Cys238Arg)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β
βββ2025β Residue 238
NM_001611.5(ACP5):c.372_373insC (p.Lys125fs)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β
βββ2024β Residue 125
NM_001611.5(ACP5):c.250_251del (p.Lys84fs)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β
βββ2024β Residue 84
NM_001611.5(ACP5):c.791T>A (p.Met264Lys)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β
βββ2024β Residue 264
NM_001611.5(ACP5):c.136del (p.Arg46fs)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β
βββ2024β Residue 46
NM_001611.5(ACP5):c.710_718del (p.Leu237_Gly239del)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β
βββ2024β Residue 237