| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | LOC122861286, UNC80 (V562D) | Single nucleotide variant (missense variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | |
| | | Single nucleotide variant (nonsense) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (inframe_deletion) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | LOC121725110, UNC80 (A1215V +2 more) | Single nucleotide variant (missense variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | |
| | | Single nucleotide variant (missense variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | |
| | | Single nucleotide variant (missense variant) | UNC80-related disorder +4 more | |
| | | Single nucleotide variant (missense variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | |
| | | Single nucleotide variant (missense variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |