| | | Copy number gain | See cases | |
| | CCDC54-AS1, LOC123002328 +682 more | Copy number loss | Chromosome 3q13.31 deletion syndrome | |
| | LOC115995524, LOC115995525 +2647 more | Copy number gain | See cases | |
| | LOC129937460, LOC129937461 +571 more | Copy number loss | See cases | |
| | LOC129937275, LOC129937276 +286 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129937413, LOC129937414 +291 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129937447, LOC129937448 +214 more | Copy number loss | See cases | |
| | | Single nucleotide variant | KALRN-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KALRN-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KALRN-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | KALRN-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | KALRN-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KALRN-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (splice donor variant) | KALRN-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | KALRN-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | KALRN-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Coronary heart disease, susceptibility to, 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | KALRN-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | EBV-positive nodal T- and NK-cell lymphoma | |
| | | Single nucleotide variant (synonymous variant +1 more) | KALRN-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | KALRN-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | KALRN-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | KALRN-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | KALRN-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | KALRN-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | KALRN-related disorder | |
| | | Single nucleotide variant (missense variant) | KALRN-related disorder | |
| | | Single nucleotide variant (missense variant) | KALRN-related disorder | |
| | | Single nucleotide variant (missense variant) | KALRN-related disorder | |
| | | 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 specified | |
| | KALRN, LOC129937406 (R10*) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | KALRN-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KALRN-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KALRN-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KALRN-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | KALRN-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | KALRN-related disorder | |
| | | Single nucleotide variant (intron variant) | KALRN-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KALRN-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | KALRN-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | KALRN-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | KALRN-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | KALRN-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | KALRN-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KALRN-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | KALRN-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KALRN-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | KALRN-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | KALRN-related disorder | |
| | | Copy number loss | not specified | |
| | | Duplication | Aortic aneurysm, familial thoracic 7 | |
| | | Duplication | Autosomal dominant hypocalcemia 1 +1 more | |
| | | Copy number gain | not provided | |
| | ISY1-RAB43, ITGB5 +109 more | Deletion | Alkaptonuria | |
| | | Copy number loss | not provided | |
| | | Deletion | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Deletion | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |