| | LOC123477714, LOC123477715 +1267 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992083, LOC129992084 +283 more | Copy number loss | See cases | |
| | LOC129991961, LOC129991962 +283 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TRMT44, USP17L10 +633 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992044, LOC129992045 +277 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129992123, LOC129992124 +461 more | Copy number gain | See cases | |
| | LOC129991962, LOC129991963 +137 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | CTBP1-AS, CTBP1-DT +278 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992180, LOC129992181 +597 more | Copy number loss | See cases | |
| | LOC129991976, LOC129991977 +346 more | Copy number loss | See cases | |
| | LOC129992081, LOC129992082 +479 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 gain | See cases | |
| | USP17L22, USP17L24 +569 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992015, LOC129992016 +274 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 | |
| | LOC129992040, LOC129992041 +313 more | Copy number loss | See cases | |
| | LOC129992257, LOC129992258 +623 more | Copy number loss | See cases | |
| | LOC129992063, LOC129992064 +323 more | Copy number loss | See cases | |
| | LOC129992439, LOC129992440 +1039 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129992004, LOC129992005 +861 more | Copy number gain | See cases | |
| | LOC129992063, LOC129992064 +322 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC123466217, LOC123466218 +277 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992188, LOC129992189 +832 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992143, LOC129992144 +618 more | Copy number gain | See cases | |
| | LOC129992049, LOC129992050 +537 more | Copy number loss | See cases | |
| | LOC129992097, LOC129992098 +256 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC123477718, LOC123477719 +987 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | USP17L13, USP17L15 +716 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992176, LOC129992177 +439 more | Copy number loss | See cases | |
| | LOC129992238, LOC129992239 +659 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992561, LOC129992562 +1409 more | Copy number gain | Neurodevelopmental disorder | |
| | | 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 | |
| | DGKQ, LOC129991972 +10 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | IDUA, LOC129991970 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant +2 more) | Mucopolysaccharidosis type 1 +3 more | |
| | | Deletion (frameshift variant +3 more) | Mucopolysaccharidosis type 1 | |
| | | Deletion (inframe_deletion +3 more) | Mucopolysaccharidosis type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Mucopolysaccharidosis type 1 | |
| | | Single nucleotide variant (missense variant +3 more) | Mucopolysaccharidosis type 1 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Hurler syndrome +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Mucopolysaccharidosis type 1 | |
| | | Single nucleotide variant (missense variant +3 more) | Mucopolysaccharidosis type 1 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Mucopolysaccharidosis type 1 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mucopolysaccharidosis type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Mucopolysaccharidosis type 1 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mucopolysaccharidosis type 1 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mucopolysaccharidosis type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +2 more) | Mucopolysaccharidosis type 1 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mucopolysaccharidosis type 1 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mucopolysaccharidosis type 1 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mucopolysaccharidosis type 1 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mucopolysaccharidosis type 1 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mucopolysaccharidosis type 1 | |