| | | Deletion | Tumoral calcinosis, hyperphosphatemic, familial, 1 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | CLEC12A, CLEC12A-AS1 +1258 more | Copy number gain | See cases | |
| | LOC126861410, LOC126861411 +1258 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007230, LOC130007231 +1257 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861494, LOC126861495 +1257 more | Copy number gain | See cases | |
| | CACNA1C-AS2, CACNA1C-AS4 +1242 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007190, LOC130007191 +698 more | Copy number gain | See cases | |
| | LOC130007275, LOC130007276 +97 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | ENO2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ENO2-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ENO2, LOC130007287 (I393V) | Single nucleotide variant (missense variant) | not specified | |
| | ENO2, LOC130007287 (R400H) | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication (splice donor variant) | Hereditary breast ovarian cancer syndrome | |
| | | Copy number gain | not specified | |
| | | Duplication | not provided | |
| | | Copy number gain | Pallister-Killian syndrome | |
| | | Duplication | Lymphoproliferative syndrome 2 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Duplication | not provided | |
| | | Duplication | Temtamy syndrome | |
| | | Duplication | Peroxisome biogenesis disorder 2B | |
| | | Copy number gain | Single transverse palmar crease +6 more | |
| | | Copy number gain | not provided | |
| | | Duplication | Temtamy syndrome | |
| | | Duplication | Klippel-Feil syndrome 3, autosomal dominant | |
| | | Duplication | Peroxisome biogenesis disorder 2B | |
| | | Duplication | Temtamy syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | SLC15A5, SLC16A7 +1006 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |