Links from MedGen
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC101927178, PPP2R3C (A328fs +1 more) | Microsatellite (frameshift variant +1 more) | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | |
| | 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 | |
| | LOC126861916, PPP2R3C
+2 more | Single nucleotide variant (5 prime UTR variant +1 more) | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy +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 | |
Click to view in NCBI Gene