| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | TWIST2-related condition | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | TWIST2-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | Chromosome 2q37 deletion syndrome | |
| | | Copy number loss | Chromosome 2q37 deletion syndrome | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Deletion | Chromosome 2q37 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | D-2-hydroxyglutaric aciduria 1 | |
| | | Duplication | Hereditary spastic paraplegia 30 +3 more | |
| | | Duplication | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Chromosome 2q37 deletion syndrome | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Chromosome 2q37 deletion syndrome | |
| | | Copy number loss | Chromosome 2q37 deletion syndrome | |
| | | Copy number loss | Chromosome 2q37 deletion syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | HDAC4, LOC100128563 +1 more | Duplication | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | HDAC4, LOC100128563 +1 more | Copy number gain | See cases | |
| | | Duplication (inframe_insertion) | Barber-Say syndrome | |
| | | Single nucleotide variant (missense variant) | Barber-Say syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Barber-Say syndrome | |
| | | Copy number loss | See cases | |
| | LOC129935871, LOC129935872 +986 more | Copy number gain | See cases | |
| | LOC129935343, LOC129935344 +1687 more | Copy number gain | See cases | |
| | LOC132090688, LOC132090689 +325 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC122889015, LOC122889016 +287 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC01937, LINC01940 +10 more | 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 | |
| | LOC129935841, LOC129935842 +1148 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935973, LOC129935974 +576 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 | |
| | | Copy number gain | See cases | |
| | LOC129935970, LOC129935971 +251 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |