| | LOC129996876, LOC129996877 +1449 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126859762, LOC126859763 +460 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Intellectual disability, autosomal dominant 55, with seizures | |
| | LOC129389639, LOC129389640 +254 more | Copy number loss | See cases | |
| | | Deletion | Interstitial 6q microdeletion syndrome | |
| | | Copy number loss | See cases | |
| | LOC129997072, LOC129997073 +147 more | Copy number gain | See cases | |
| | CEP85L, LOC110121273 +10 more | Copy number gain | See cases | |
| | CEP85L, LOC110121273 +8 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Lissencephaly 10 | |
| | | Single nucleotide variant (nonsense) | Lissencephaly 10 | |
| | | Single nucleotide variant (missense variant) | Lissencephaly 10 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Lissencephaly 10 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | CEP85L-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Lissencephaly 10 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Microsatellite (3 prime UTR variant +1 more) | CEP85L-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | CEP85L-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Lissencephaly 10 | |
| | | Copy number gain | See cases | |
| | | 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) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Lissencephaly 10 | |
| | | Single nucleotide variant (missense variant) | CEP85L-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Lissencephaly 10 | |
| | | Deletion | Dilated cardiomyopathy 1P | |
| | | Duplication | Dilated cardiomyopathy 1P | |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 1P | |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 1P +1 more | |
| | | Duplication | Dilated cardiomyopathy 1P | |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 1P | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 1P +1 more | |
| | | Single nucleotide variant (intron variant) | Lissencephaly 10 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Dilated cardiomyopathy 1P +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Dilated Cardiomyopathy, Dominant +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Dilated cardiomyopathy 1P +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (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 (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 1P +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Duplication | Dilated cardiomyopathy 1P | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Duplication (frameshift variant +1 more) | Dilated cardiomyopathy 1P | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1P | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dilated cardiomyopathy 1P | |
| | | Duplication (frameshift variant +1 more) | Dilated cardiomyopathy 1P | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1P | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiomyopathy +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiomyopathy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1P | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1P | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1P | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dilated cardiomyopathy 1P | |
| | | Duplication (frameshift variant +1 more) | Cardiovascular phenotype | |