| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Cerebrooculofacioskeletal syndrome 1 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Cockayne syndrome type 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Macular degeneration +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Cerebrooculofacioskeletal syndrome 1 +3 more | |
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