| | LOC130057927, LOC130057928 +1764 more | Copy number gain | See cases | |
| | LOC116268473, LOC116268474 +1244 more | Copy number gain | See cases | |
| | LOC130057943, LOC130057944 +664 more | Copy number gain | See cases | |
| | LOC130057907, LOC130057908 +630 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | MIR11181, MIR1179 +517 more | Copy number gain | See cases | |
| | LOC130057997, LOC130057998 +500 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +422 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +228 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +205 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +218 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +202 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +203 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +201 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +195 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +184 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +185 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +184 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +179 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +174 more | Copy number loss | See cases | |
| | ADAMTS17, ARRDC4 +111 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +171 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +165 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +159 more | Copy number loss | See cases | |
| | LOC130058070, LOC130058071 +148 more | Copy number loss | See cases | |
| | LINC02244, LOC105371017 +35 more | Copy number gain | See cases | |
| | LINC02244, LOC105371017 +30 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +127 more | Copy number loss | See cases | |
| | ADAMTS17, LINC02244 +28 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +121 more | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Microsatellite (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Coronary artery disease, autosomal dominant, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | MEF2A-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Coronary artery disease/myocardial infarction | |
| | | Single nucleotide variant (missense variant +1 more) | Coronary artery disease/myocardial infarction | |
| | | Single nucleotide variant (synonymous variant +1 more) | MEF2A-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | MEF2A-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | See cases | Gconflicting data from submitters |
| | | 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) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | MEF2A-related disorder | |
| | | Microsatellite (inframe_insertion) | not provided +1 more | |
| | | Microsatellite | MEF2A-related disorder | |
| | | Microsatellite (inframe_deletion) | not specified | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | MEF2A-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 (synonymous variant) | not provided | |
| | | Deletion (inframe_deletion) | Coronary artery disease, autosomal dominant, 1 | |
| | | Single nucleotide variant (synonymous variant) | MEF2A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | MEF2A-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ADAMTS17, ALDH1A3 +19 more | Copy number loss | not provided | |
| | ADAMTS17, ALDH1A3 +23 more | Copy number gain | not specified | |
| | ADAMTS17, ALDH1A3 +16 more | Copy number loss | not specified | |
| | ADAMTS17, ALDH1A3 +19 more | Copy number loss | not specified | |
| | ADAMTS17, ALDH1A3 +19 more | Deletion | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | ADAMTS17, ALDH1A3 +19 more | Copy number loss | not specified | |
| | ADAMTS17, ALDH1A3 +21 more | Copy number loss | not specified | |
| | ADAMTS17, ALDH1A3 +21 more | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | ADAMTS17, ALDH1A3 +12 more | Duplication | not provided | |
| | ADAMTS17, ALDH1A3 +29 more | Copy number loss | not provided | |
| | ADAMTS17, ALDH1A3 +12 more | Deletion | Chromosome 15q26-qter deletion syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |