| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | 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 | |
| | LOC129929040, DM1-AS
+3 more | Microsatellite | Steinert myotonic dystrophy syndrome | |
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