| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Au-Kline syndrome +1 more | GConflicting classifications of pathogenicity |
| | HNRNPK, HNRNPK-AS1 (V168G +1 more) | Single nucleotide variant (missense variant) | Au-Kline syndrome | |
| | | Single nucleotide variant (intron variant) | Au-Kline syndrome | |
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