| | | Single nucleotide variant (missense variant) | Chromosome 2q37 deletion syndrome | |
| | | Copy number loss | Chromosome 2q37 deletion syndrome | |
| | | Copy number loss | Chromosome 2q37 deletion syndrome | |
| | | Duplication | Chromosome 2q37 deletion syndrome | |
| | | Deletion | Chromosome 2q37 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q37 deletion syndrome +2 more | |
| | | Single nucleotide variant (nonsense) | Chromosome 2q37 deletion syndrome +1 more | |
| | | Copy number loss | Chromosome 2q37 deletion syndrome | |
| | | Deletion (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Copy number loss | Chromosome 2q37 deletion syndrome | |
| | | Copy number loss | Chromosome 2q37 deletion syndrome | |
| | | Copy number loss | Chromosome 2q37 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with central hypotonia and dysmorphic facies +2 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with central hypotonia and dysmorphic facies | |
| | | Single nucleotide variant (intron variant) | Chromosome 2q37 deletion syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Deletion (intron variant) | Chromosome 2q37 deletion syndrome | |
| | | Duplication (frameshift variant) | not provided | |