| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_deletion) | Branchiootic syndrome 3 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | SIX1-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Branchiootic syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Branchiootic syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 23 +2 more | |
| | | Single nucleotide variant (missense variant) | Branchiootic syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Branchiootic syndrome 3 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC107075317, SIX5 (G365R) | Single nucleotide variant (missense variant) | Branchiootorenal syndrome 2 | |
| | LOC107075317, SIX5 (A296T) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | DM1-AS, LOC107075317
+1 more (A158T) | Single nucleotide variant (missense variant) | not provided | |
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