| | | Duplication (frameshift variant) | Perrault syndrome 4 | |
| | | Single nucleotide variant (splice acceptor variant) | Perrault syndrome 4 | |
| | | Deletion (frameshift variant) | Perrault syndrome 4 | |
| | | Single nucleotide variant (splice acceptor variant) | Perrault syndrome 4 | |
| | | Single nucleotide variant (nonsense) | Perrault syndrome 4 | |
| | | Deletion (frameshift variant) | Perrault syndrome 4 | |
| | | Single nucleotide variant (splice donor variant) | Perrault syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Perrault syndrome 4 | |
| | | Single nucleotide variant (nonsense) | Perrault syndrome 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Perrault syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Perrault syndrome 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Perrault syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Perrault syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Perrault syndrome 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Perrault syndrome 4 | |
| | | Single nucleotide variant (nonsense) | Perrault syndrome 4 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Perrault syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Perrault syndrome 4 | |
| | | Deletion (frameshift variant) | Perrault syndrome 4 | |
| | | Deletion (frameshift variant) | Perrault syndrome 4 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Perrault syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Perrault syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Perrault syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Perrault syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Perrault syndrome 4 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | | Perrault syndrome 4 | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Perrault syndrome 4 +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Perrault syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Perrault syndrome 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Perrault syndrome 4 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Perrault syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Nonsyndromic genetic hearing loss | |
| | | Single nucleotide variant (missense variant) | Rare genetic deafness +4 more | GPathogenic/Likely pathogenic |