| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | See cases | |
| | PPP2R2B, CTB-99A3.1 (G386A +6 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CTB-99A3.1, PPP2R2B (D352H +6 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CTB-99A3.1, PPP2R2B (C324S +6 more) | Single nucleotide variant (missense variant) | not provided | |
| | CTB-99A3.1, PPP2R2B (H302N +6 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CTB-99A3.1, PPP2R2B (T283I +6 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CTB-99A3.1, PPP2R2B (R254G +6 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
Click to view in NCBI Gene