| | | Single nucleotide variant (missense variant) | CHIME syndrome | |
| | | Deletion (frameshift variant) | CHIME syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | CHIME syndrome | |
| | | Single nucleotide variant (splice donor variant) | CHIME syndrome | |
| | | Single nucleotide variant (missense variant) | CHIME syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | CHIME syndrome | |
| | | Single nucleotide variant (synonymous variant) | CHIME syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | CHIME syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | CHIME syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | CHIME syndrome | |
| | | Single nucleotide variant (missense variant) | CHIME syndrome | |
| | | Single nucleotide variant (missense variant) | CHIME syndrome +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | CHIME syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | CHIME syndrome +8 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | CHIME syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +2 more | |
| | | 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) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +1 more | |
| | | 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 (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | CHIME syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | CHIME syndrome | |
| | | Single nucleotide variant (missense variant) | CHIME syndrome | |
| | | Single nucleotide variant (synonymous variant) | CHIME syndrome | |
| | | Single nucleotide variant (intron variant) | CHIME syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CHIME syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | CHIME syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | CHIME syndrome | |
| | | Single nucleotide variant (missense variant) | CHIME syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | CHIME syndrome | |
| | | Single nucleotide variant (intron variant) | CHIME syndrome | |
| | | 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 (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CHIME syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | CHIME syndrome | |
| | | Single nucleotide variant (missense variant) | CHIME syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | CHIME syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | CHIME syndrome | |
| | | Deletion (frameshift variant) | CHIME syndrome | |
| | | Single nucleotide variant (missense variant) | CHIME syndrome +3 more | |