| | LOC101927178, PPP2R3C (Q171fs +1 more) | Deletion (frameshift variant) | Spermatogenic failure 36 | |
| | LOC101927178, PPP2R3C (S386L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC101927178, PPP2R3C (T307I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101927178, PPP2R3C (G302A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101927178, PPP2R3C (W159S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC101927178, PPP2R3C (T157A +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC101927178, PPP2R3C (V16I +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Duplication (intron variant) | PPP2R3C-related disorder | |
| | LOC101927178, PPP2R3C (A328fs +1 more) | Microsatellite (frameshift variant +1 more) | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | |
| | PPP2R3C, LOC101927178 (I128fs +1 more) | Deletion (frameshift variant +1 more) | not specified | |
| | LOC126861916, PPP2R3C
+2 more (T13M) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | LOC101927178, PPP2R3C (V253I +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC101927178, PPP2R3C (D449E +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC101927178, PPP2R3C (N413S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC101927178, PPP2R3C (Q107R) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | LOC101927178, PPP2R3C (F116L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC101927178, PPP2R3C (K268E +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC101927178, PPP2R3C (R203H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101927178, PPP2R3C (L427M +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC101927178, PPP2R3C (K177E +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101927178, PPP2R3C (L260P +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC101927178, PPP2R3C (D176N +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101927178, PPP2R3C (G417E +1 more) | Single nucleotide variant (missense variant +1 more) | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | |
| | LOC101927178, PPP2R3C (F229del +1 more) | Microsatellite (inframe_deletion +1 more) | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | |
| | | Duplication (inframe_insertion +1 more) | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | |
| | PRORP, LOC126861916
+2 more | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | |
| | LOC101927178, PPP2R3C (L103P) | Single nucleotide variant (5 prime UTR variant +2 more) | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | |
| | LOC101927178, PPP2R3C (L193S +1 more) | Single nucleotide variant (missense variant +1 more) | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | |
| | LOC101927178, PPP2R3C (F350S +1 more) | Single nucleotide variant (missense variant +1 more) | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | |