| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (stop lost) | PPP1R12A-related disorder | |
| | | Deletion (frameshift variant) | PPP1R12A-related disorder | |
| | | Single nucleotide variant (nonsense) | PPP1R12A-related disorder | |
| | | Single nucleotide variant (missense variant) | PPP1R12A-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | PPP1R12A-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | PPP1R12A-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | PPP1R12A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | PPP1R12A-related disorder | |
| | LOC112163633, PPP1R12A (L74V) | Single nucleotide variant (missense variant) | PPP1R12A-related disorder | |
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