| | LOC130060335, LOC130060336 +242 more | Copy number gain | See cases | |
| | ADORA2B, ARHGAP44 +228 more | Duplication | not specified | |
| | ADORA2B, CCDC144A +137 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130060373, LOC130060374 +333 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC116276455, LOC121587576 +64 more | Copy number gain | See cases | |
| | LOC130060409, LOC130060410 +311 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 | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | CHIME syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | CHIME syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | CHIME syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | CHIME syndrome | |
| | | Single nucleotide variant (missense variant) | CHIME syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (splice donor variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Microsatellite (frameshift variant) | Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | CHIME syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | CHIME syndrome | |
| | | Single nucleotide variant (missense variant) | CHIME syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | CHIME syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | CHIME syndrome | |
| | | Single nucleotide variant (synonymous variant) | Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | CHIME syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | CHIME syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | CHIME syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | CHIME syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | CHIME syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | CHIME syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | CHIME syndrome | |
| | | Single nucleotide variant (missense variant) | CHIME syndrome | |
| | | Single nucleotide variant (missense variant) | CHIME syndrome | |
| | | Single nucleotide variant (synonymous variant) | CHIME syndrome | |
| | | Single nucleotide variant (missense variant) | Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | CHIME syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |