| | LOC126862696, PIEZO2 (W936* +1 more) | Single nucleotide variant (nonsense) | Arthrogryposis, distal, with impaired proprioception and touch | |
| | | Copy number loss | Deletion of short arm of chromosome 18 | |
| | LOC126862696, PIEZO2 (V946I +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126862696, PIEZO2 (V980L +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (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 (synonymous variant) | not provided | |
| | | Copy number loss | See cases | |
| | LOC130062321, LOC130062322 +1643 more | Copy number gain | See cases | |
| | LOC130062172, LOC130062173 +368 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121852961, LOC121852962 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062369, LOC130062370 +1643 more | Copy number gain | See cases | |
| | LOC112543419, LOC112543420 +246 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC105372069, LOC105372071 +1643 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062178, LOC130062179 +164 more | Copy number loss | See cases | |
| | LINC00470, LINC00526 +367 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062167, LOC130062168 +245 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062768, LOC130062769 +1642 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062212, LOC130062213 +344 more | Copy number loss | See cases | |
| | LOC125368546, LOC125368547 +368 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062147, LOC130062148 +339 more | Copy number gain | See cases | |
| | LOC130062687, LOC130062688 +1642 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00668, LINC01254 +379 more | Copy number gain | See cases | |
| | LOC105372173, LOC105372179 +1646 more | Copy number gain | See cases | |
| | LINC01892, LINC01895 +379 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |