| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | ADAMTS13, LOC130002910 (C265S) | Single nucleotide variant (missense variant) | Upshaw-Schulman syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Upshaw-Schulman syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Upshaw-Schulman syndrome | |
| | | Single nucleotide variant (intron variant) | Upshaw-Schulman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
Click to view in NCBI Gene