| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | PEG3, ZIM2 (G1329S +5 more) | Single nucleotide variant (missense variant +1 more) | PEG3-related condition | |
| | | Microsatellite (inframe deletion +1 more) | PEG3-related condition | |
| | PEG3, ZIM2 (D1075N +5 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | PEG3, ZIM2 (E1015K +5 more) | Single nucleotide variant (missense variant +1 more) | PEG3-related condition | |
| | PEG3, ZIM2 (R161G +3 more) | Single nucleotide variant (missense variant +2 more) | PEG3-related condition +1 more | |
| | PEG3, ZIM2 (H116Q +3 more) | Single nucleotide variant (missense variant +1 more) | PEG3-related condition +1 more | |
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