| | LOC123493236, LOC123493237 +1310 more | Copy number gain | See cases | |
| | LOC132089056, LOC132089057 +1245 more | Copy number gain | See cases | |
| | LOC126807228, LOC126807229 +1102 more | Copy number gain | See cases | |
| | LOC129993256, LOC129993257 +1068 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 | |
| | LOC129993386, LOC129993387 +535 more | Copy number gain | See cases | |
| | LOC129993497, LOC129993498 +509 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129993480, LOC129993481 +466 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129993505, LOC129993506 +455 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LINC02500, LINC02504 +383 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | GALNTL6-AS1, GLRA3 +85 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | 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 provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | HAND2-related condition +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | HAND2-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | HAND2-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | HAND2-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | HAND2-related condition | |
| | | Single nucleotide variant (missense variant) | HAND2-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | Dilated cardiomyopathy 1A | |
| | | Single nucleotide variant (synonymous variant) | HAND2-related condition +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | HAND2-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Deletion (inframe_deletion) | HAND2-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | HAND2-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not specified | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Neurodevelopmental disorder | |
| | | Copy number loss | not provided | |
| | | Copy number loss | 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 loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |