Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC101927178, PPP2R3C (Q171fs +1 more) | Deletion (frameshift variant) | Spermatogenic failure 36 | |
| | 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 | |
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