| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ADAMTS19-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | ADAMTS19-related disorder | |
| | | Single nucleotide variant (missense variant) | ADAMTS19-related disorder | |
| | | Single nucleotide variant (missense variant) | ADAMTS19-related disorder | |
| | | Single nucleotide variant (nonsense) | ADAMTS19-related disorder | |
Click to view in NCBI Gene