| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | DIAPH1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Duplication (intron variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +2 more | |
| | | Deletion (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +2 more | |
Click to view in NCBI Gene