| | LOC130001537, LOC130001538 +3785 more | Copy number gain | See cases | |
| | LOC130002976, LOC130002977 +3784 more | Copy number gain | See cases | |
| | LOC130001468, LOC130001469 +3785 more | Copy number gain | See cases | |
| | DNAJB5, DNAJB5-DT +3785 more | Copy number gain | See cases | |
| | LOC114827838, LOC116186936 +3785 more | Copy number gain | See cases | |
| | LOC124252641, LOC124252642 +3785 more | Copy number gain | See cases | |
| | LOC114022701, LOC114022702 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120726, LOC110120727 +3785 more | Copy number gain | See cases | |
| | LOC130002527, LOC130002528 +1272 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003109, LOC130003110 +1210 more | Copy number gain | See cases | |
| | LOC130002885, LOC130002886 +789 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121282, LOC111365185 +530 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ADAMTS13, REXO4 (E54K +2 more) | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | ADAMTS13, REXO4 (E175K +2 more) | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | ADAMTS13, REXO4 (N62S +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | ADAMTS13, REXO4 (A87T +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | ADAMTS13, REXO4 (P120L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ADAMTS13, REXO4 (E118K +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided +1 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | Upshaw-Schulman syndrome | |
| | | Single nucleotide variant (genic upstream transcript variant) | Upshaw-Schulman syndrome | |
| | | Single nucleotide variant (genic upstream transcript variant) | Upshaw-Schulman syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Upshaw-Schulman syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Upshaw-Schulman syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Upshaw-Schulman syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Upshaw-Schulman syndrome | |
| | | Single nucleotide variant (nonsense) | Upshaw-Schulman syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Deletion (frameshift variant +1 more) | Thrombotic thrombocytopenic purpura | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Microsatellite (inframe_indel +2 more) | not provided | |
| | | Microsatellite (inframe_indel +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Upshaw-Schulman syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Upshaw-Schulman syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Upshaw-Schulman syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Upshaw-Schulman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Upshaw-Schulman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Upshaw-Schulman syndrome | |
| | | Single nucleotide variant (splice donor variant) | Upshaw-Schulman syndrome | |
| | | Single nucleotide variant (intron variant) | ADAMTS13-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Upshaw-Schulman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Upshaw-Schulman syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |