| | | Microsatellite (inframe_deletion) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (nonsense) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (nonsense) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Duplication (frameshift variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (intron variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (splice donor variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Indel (intron variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (intron variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (intron variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 +2 more | |
| | | Single nucleotide variant (intron variant) | VPS33B-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 +1 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Deletion (frameshift variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Microsatellite (frameshift variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +1 more | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Arthrogryposis, renal dysfunction, and cholestasis 1 +1 more | |
| | | | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (splice donor variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (synonymous variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | VPS33B-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (missense variant) | VPS33B-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | |
| | | Microsatellite (frameshift variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (intron variant) | VPS33B-related condition +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant +2 more) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (splice donor variant) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Arthrogryposis, renal dysfunction, and cholestasis 1 | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |