| | DIAPH3, DIAPH3-AS1 (E112G +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | DIAPH3-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | DIAPH3, DIAPH3-AS1 (H170N +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | DIAPH3, DIAPH3-AS1 (S160R +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | DIAPH3, DIAPH3-AS1 (R102* +3 more) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | DIAPH3, DIAPH3-AS1 (E190G +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | DIAPH3, DIAPH3-AS1 (T134A +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | DIAPH3, DIAPH3-AS1 (R130* +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal dominant auditory neuropathy 1 | |
| | DIAPH3, DIAPH3-AS1 (D119G +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | DIAPH3, DIAPH3-AS1 (H146Y +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | DIAPH3, DIAPH3-AS1 (L229V +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | DIAPH3, DIAPH3-AS1 (C125S +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | DIAPH3, DIAPH3-AS1 (L159P +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | DIAPH3, DIAPH3-AS1 (I164T +3 more) | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | DIAPH3, DIAPH3-AS1 (Q173E +3 more) | Single nucleotide variant (missense variant) | Hearing impairment | |
| | DIAPH3, DIAPH3-AS1 (K237N +3 more) | Single nucleotide variant (missense variant) | not provided | |