| | | Deletion (frameshift variant) | Intellectual disability, autosomal recessive 50 | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | EDC3-related condition | |
| | | Single nucleotide variant (synonymous variant) | EDC3-related condition | |
| | | Single nucleotide variant (synonymous variant) | EDC3-related condition | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | Chromosome 15q24 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Hearing impairment | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 50 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication | Familial colorectal cancer +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | EDC3-related condition +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | 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 | |
| | | Duplication | not provided | |
| | | Duplication | Schizophrenia | |
| | LOC130057525, LOC130057526 +205 more | Duplication | Schizophrenia | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 50 | |
| | SLC24A1, SLC28A1 +310 more | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130057816, LOC130057817 +1763 more | Copy number gain | See cases | |
| | LOC110467517, LOC112272614 +202 more | Copy number loss | See cases | |
| | LOC121530589, LOC121530590 +487 more | Copy number loss | See cases | |
| | ADPGK, ADPGK-AS1 +243 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ADPGK, ADPGK-AS1 +204 more | Copy number gain | See cases | |
| | LOC130057507, LOC130057508 +236 more | Copy number loss | See cases | |