| | B3GALNT2, TBCE (S366fs +2 more) | Duplication (3 prime UTR variant +1 more) | Encephalopathy, progressive, with amyotrophy and optic atrophy | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | B3GALNT2, TBCE (L333del +2 more) | Microsatellite (inframe_deletion) | Encephalopathy, progressive, with amyotrophy and optic atrophy | |
| | | Single nucleotide variant (splice donor variant) | Encephalopathy, progressive, with amyotrophy and optic atrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Encephalopathy, progressive, with amyotrophy and optic atrophy +3 more | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, progressive, with amyotrophy and optic atrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, progressive, with amyotrophy and optic atrophy | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, progressive, with amyotrophy and optic atrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Encephalopathy, progressive, with amyotrophy and optic atrophy | |
| | | Single nucleotide variant (missense variant) | not provided | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Deletion (inframe_deletion +1 more) | Encephalopathy, progressive, with amyotrophy and optic atrophy +2 more | GPathogenic/Likely pathogenic |