NM_018668.5(VPS33B):c.1030+1G>ALikely pathogenic
Cholestasis, progressive familial intrahepatic, 12;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Arthrogryposis, renal dysfunction, and cholestasis 1|not provided|Arthrogryposis, renal dysfunction, and cholestasis 1
β
β
ββ2026
NM_018668.5(VPS33B):c.319C>T (p.Arg107Ter)Pathogenic
not provided|Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12;Arthrogryposis, renal dysfunction, and cholestasis 1|Arthrogryposis, renal dysfunction, and cholestasis 1
β
β
ββ2026β Residue 107
NM_018668.5(VPS33B):c.1509dup (p.Lys504fs)Pathogenic
Arthrogryposis, renal dysfunction, and cholestasis 1|Cholestasis, progressive familial intrahepatic, 12|not provided
β
β
ββ2026β Residue 504
NM_018668.5(VPS33B):c.1623_1641del (p.Arg542fs)Pathogenic
VPS33B-related disorder|Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12;Arthrogryposis, renal dysfunction, and cholestasis 1|not provided
β
β
ββ2026β Residue 542
NM_018668.5(VPS33B):c.1567C>T (p.Arg523Ter)Pathogenic
not provided|Cholestasis, progressive familial intrahepatic, 12
β
β
ββ2025β Residue 523
NM_018668.5(VPS33B):c.242del (p.Leu81fs)Pathogenic
not provided|Cholestasis, progressive familial intrahepatic, 12
β
β
ββ2025β Residue 81
NM_018668.5(VPS33B):c.1519C>T (p.Arg507Ter)Pathogenic
Arthrogryposis, renal dysfunction, and cholestasis 1|not provided
β
β
ββ2025β Residue 507
NM_018668.5(VPS33B):c.1235_1236delinsG (p.Pro412fs)Pathogenic
Cholestasis, progressive familial intrahepatic, 12;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Arthrogryposis, renal dysfunction, and cholestasis 1|not provided
β
β
ββ2025β Residue 412
NM_018668.5(VPS33B):c.1246C>T (p.Arg416Ter)Pathogenic
not provided|Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
β
β
ββ2025β Residue 416
NM_018668.5(VPS33B):c.1225+5G>CPathogenic
Arthrogryposis, renal dysfunction, and cholestasis 1|not provided|Inborn genetic diseases|VPS33B-related disorder|Arthrogryposis, renal dysfunction, and cholestasis 1;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12
β
β
ββ2025
NM_018668.5(VPS33B):c.277C>T (p.Arg93Ter)Pathogenic
not provided|VPS33B-related disorder|Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12;Arthrogryposis, renal dysfunction, and cholestasis 1|Arthrogryposis, renal dysfunction, and cholestasis 1
β
β
ββ2025β Residue 93
NM_018668.5(VPS33B):c.1498G>T (p.Glu500Ter)Pathogenic
Arthrogryposis, renal dysfunction, and cholestasis 1|not provided|Arthrogryposis, renal dysfunction, and cholestasis 1;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12
β
β
ββ2025β Residue 500
NM_018668.5(VPS33B):c.498+4A>GLikely pathogenic
Arthrogryposis, renal dysfunction, and cholestasis 1|Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
β
β
ββ2024
NM_018668.5(VPS33B):c.239+5G>APathogenic
not provided|Arthrogryposis, renal dysfunction, and cholestasis 1|Inborn genetic diseases|Arthrogryposis, renal dysfunction, and cholestasis 1;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12
β
β
ββ2024
NM_018668.5(VPS33B):c.1312C>T (p.Arg438Ter)Pathogenic
Arthrogryposis, renal dysfunction, and cholestasis 1|not provided|VPS33B-related disorder|Arthrogryposis, renal dysfunction, and cholestasis 1;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12
β
β
ββ2024β Residue 438
NM_018668.5(VPS33B):c.403+2T>APathogenic
Arthrogryposis, renal dysfunction, and cholestasis 1|Cholestasis, progressive familial intrahepatic, 12;Arthrogryposis, renal dysfunction, and cholestasis 1;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
β
β
ββ2024
NM_018668.5(VPS33B):c.151C>T (p.Arg51Ter)Pathogenic
Arthrogryposis, renal dysfunction, and cholestasis 1|not provided|Arthrogryposis, renal dysfunction, and cholestasis 1;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12
β
β
ββ2024β Residue 51
NM_018668.5(VPS33B):c.240-1G>CPathogenic
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive|Arthrogryposis, renal dysfunction, and cholestasis 1;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12|not provided
β
β
ββ2024
NM_018668.5(VPS33B):c.84T>A (p.Tyr28Ter)Pathogenic
Arthrogryposis, renal dysfunction, and cholestasis 1|not provided
β
β
ββ2023β Residue 28
NM_018668.5(VPS33B):c.350del (p.Pro117fs)Pathogenic
not provided|Arthrogryposis, renal dysfunction, and cholestasis 1
β
β
ββ2020β Residue 117