| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Male infertility with azoospermia or oligozoospermia due to single gene mutation +10 more | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Metachondromatosis +10 more | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Non-immune hydrops fetalis +8 more | |
| | | Single nucleotide variant (missense variant) | Metachondromatosis +9 more | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +8 more | |
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