| | | 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 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Deletion | Bethlem myopathy 1A | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | 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 | |
| | | 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 | |
| | LOC100128563, MAB21L4 +37 more | Copy number gain | not provided | |
| | | Deletion | Intellectual disability | |
| | | Copy number loss | Poland anomaly | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Chromosome 2q37 deletion syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | 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 | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | 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 | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Primary hyperoxaluria, type I | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC110121227, LOC110599582 +143 more | 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 | |
| | LOC129936021, LOC129936022 +144 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 | |
| | | 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 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126806577, LOC126806578 +334 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935990, LOC129935991 +361 more | Copy number loss | See cases | |