| | | Deletion (frameshift variant +1 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (intron variant) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (missense variant +2 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (nonsense +1 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (nonsense +1 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (missense variant +2 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |
| | | Single nucleotide variant (nonsense +1 more) | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | |