| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | not provided | |
| | | Duplication | Dilated cardiomyopathy 1G +1 more | |
| | | Duplication | Dilated cardiomyopathy 1G +1 more | |
| | | Duplication | Dilated cardiomyopathy 1G +1 more | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (intron variant) | TTN-related disorder | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | | Duplication | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | | Deletion | Dilated cardiomyopathy 1G +1 more | |
| | | 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 | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number gain | not specified | |
| | | Copy number loss | 3-4 finger syndactyly +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number loss | 2q24 microdeletion syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | FKBP7, LOC126806420 +17 more | Duplication | Dystonia 16 | |
| | | Copy number gain | not provided | |
| | LOC126806420, LOC126806421 +12 more | Deletion | Dilated cardiomyopathy 1G | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126806416, LOC126806417 +591 more | Copy number loss | See cases | |
| | LOC129935164, LOC129935165 +697 more | Copy number loss | See cases | |