| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Deletion (non-coding transcript variant +1 more) | Nephrotic syndrome 15 | |
| | | Single nucleotide variant | not provided | |
| | | Microsatellite | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Microsatellite | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Microsatellite | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Nephrotic syndrome 15 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | MAGI2-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +3 more | |
| | | Copy number loss | See cases | |
| | ABHD11, ABHD11-AS1 +317 more | Copy number loss | See cases | |
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