| | | Deletion (non-coding transcript variant +1 more) | Exudative vitreoretinopathy 2, X-linked +1 more | |
| | | Duplication (non-coding transcript variant +1 more) | Exudative vitreoretinopathy 2, X-linked +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Atrophia bulborum hereditaria | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Atrophia bulborum hereditaria | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Atrophia bulborum hereditaria | |
| | | Duplication (non-coding transcript variant +1 more) | Atrophia bulborum hereditaria | |
| | | Deletion (frameshift variant) | Atrophia bulborum hereditaria | |
| | | Single nucleotide variant (missense variant +1 more) | Atrophia bulborum hereditaria +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Atrophia bulborum hereditaria | |
| | | Single nucleotide variant (nonsense) | Atrophia bulborum hereditaria | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Atrophia bulborum hereditaria | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hearing impairment +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Atrophia bulborum hereditaria | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 5 +3 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Atrophia bulborum hereditaria +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Atrophia bulborum hereditaria | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Atrophia bulborum hereditaria | |
| | | Single nucleotide variant (missense variant) | Atrophia bulborum hereditaria | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Atrophia bulborum hereditaria | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Atrophia bulborum hereditaria | |
| | | Deletion (frameshift variant) | Atrophia bulborum hereditaria | |
| | | Single nucleotide variant (missense variant) | Atrophia bulborum hereditaria +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Atrophia bulborum hereditaria | |
| | | Single nucleotide variant (missense variant) | Atrophia bulborum hereditaria | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Atrophia bulborum hereditaria +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Atrophia bulborum hereditaria | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Atrophia bulborum hereditaria | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Atrophia bulborum hereditaria | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Exudative vitreoretinopathy 2, X-linked | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |