| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126862183, SCAPER (N969S +4 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LOC126862183, SCAPER (S1090fs +4 more) | Duplication (frameshift variant +1 more) | SCAPER-related condition | |
| | LOC126862183, SCAPER (P1089T +4 more) | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder and retinitis pigmentosa; IDDRP +1 more | |
| | LOC126862183, SCAPER (N1067S +4 more) | Single nucleotide variant (missense variant +1 more) | SCAPER-related condition | |
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