| | | Single nucleotide variant (splice donor variant) | UNC80-related disorder | |
| | LOC126806490, UNC80 (G1704R +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | not provided | |
| | LOC126806490, UNC80 (A1639T +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC121725110, UNC80 (N1267I +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC121725110, UNC80 (K1273fs +2 more) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC126806490, UNC80 (F1633I +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126806490, UNC80 (T1704I +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC121725110, UNC80 (V1241M +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Insertion (frameshift variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | |
| | 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 | |
| | | 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 | |
| | | Deletion (inframe_deletion) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | |
| | | Single nucleotide variant (missense variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | |
| | | Deletion (frameshift variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | |
| | LOC126806490, UNC80 (M1623I +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126806490, UNC80 (Y1722S +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC122861286, UNC80 (V562I) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC126806490, UNC80 (M1613V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806490, UNC80 (P1692L +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126806490, UNC80 (D1622N +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC122861286, UNC80 (K563T) | Single nucleotide variant (missense variant) | not provided | |
| | LOC122861286, UNC80 (D549H) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806490, UNC80 (P1636S +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC121725110, UNC80 (N1231S +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806490, UNC80 (V1724A +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806490, UNC80 (F1736L +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | UNC80, LOC121725110 (I1258T +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC122861286, UNC80 (H543R) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC122861286, UNC80 (L550P) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126806490, UNC80 (P1679Q +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806490, UNC80 (I1743F +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC121725110, UNC80 (R1229H +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC121725110, UNC80 (K1237T +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC121725110, UNC80 (W1271C +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126806490, UNC80 (M1657L +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806490, UNC80 (P1660L +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806490, UNC80 (M1693V +2 more) | Single nucleotide variant (missense variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more | |
| | LOC126806490, UNC80 (M1694V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126806490, UNC80 (V1640G +2 more) | Single nucleotide variant (missense variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126806490, UNC80 (R1650H +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |