| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC107303340, VHL (L188V +1 more) | Single nucleotide variant (missense variant +1 more) | Von Hippel-Lindau syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Au-Kline syndrome | |
| | | Single nucleotide variant (splice donor variant) | Au-Kline syndrome | |
| | HNRNPK, HNRNPK-AS1 (R167fs +1 more) | Microsatellite (frameshift variant) | Au-Kline syndrome | |
| | HNRNPK, HNRNPK-AS1 (L131fs +1 more) | Microsatellite (frameshift variant) | Au-Kline syndrome | |
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