| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | SLC26A5-AS1, RELN (H3445R +1 more) | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +2 more | |
| | RELN, SLC26A5-AS1 (K3100del) | Microsatellite (inframe_deletion) | not provided +5 more | GConflicting classifications of pathogenicity |
| | RELN, SLC26A5-AS1 (R2955C) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | RELN, SLC26A5-AS1 (D2727E) | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene