| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | |
| | | Single nucleotide variant (intron variant) | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | |
| | LOC126862673, TBCD (I700fs) | Deletion (frameshift variant) | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | |
| | | Single nucleotide variant (missense variant) | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | |
| | | Single nucleotide variant (missense variant) | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene