| | | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number loss | See cases | |
| | LOC129992172, LOC129992173 +505 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806985, LOC126806986 +634 more | Copy number loss | See cases | |
| | AFAP1, AFAP1-AS1 +505 more | Copy number loss | See cases | |
| | LOC129991989, LOC129991990 +675 more | Copy number gain | See cases | |
| | LOC129992066, LOC129992067 +462 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129991987, LOC129991988 +692 more | 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 | |
| | | Copy number loss | See cases | |
| | LOC129992076, LOC129992077 +537 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992040, LOC129992041 +658 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129992004, LOC129992005 +863 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806968, LOC126806969 +717 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992157, LOC129992158 +660 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992453, LOC129992454 +1413 more | Copy number gain | Neurodevelopmental disorder | |
| | LOC129992000, LOC129992001 +501 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | | Deletion | not provided | |
| | | Copy number loss | See cases | |
| | LOC129992138, LOC129992139 +29 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Ellis-van Creveld syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Ellis-van Creveld syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Curry-Hall syndrome +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Ellis-van Creveld syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Ellis-van Creveld syndrome | |
| | | Microsatellite (5 prime UTR variant) | Curry-Hall syndrome +1 more | |
| | | Duplication (frameshift variant +1 more) | Curry-Hall syndrome +1 more | |
| | | Indel (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Ellis-van Creveld syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Ellis-van Creveld syndrome | |
| | | Deletion (inframe_deletion +1 more) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Ellis-van Creveld syndrome | |
| | | Indel (missense variant +1 more) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Curry-Hall syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ellis-van Creveld syndrome +1 more | |
| | | Insertion (frameshift variant) | Ellis-van Creveld syndrome | |
| | | Insertion (frameshift variant) | Ellis-van Creveld syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +1 more | |
| | | Insertion (frameshift variant) | Ellis-van Creveld syndrome | |
| | | Deletion (frameshift variant) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Curry-Hall syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Curry-Hall syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +1 more | |
| | | Deletion (nonsense) | Curry-Hall syndrome +1 more | |
| | | Deletion (frameshift variant) | Ellis-van Creveld syndrome | |
| | | Single nucleotide variant (nonsense) | Curry-Hall syndrome +1 more | |
| | | Deletion (frameshift variant) | Ellis-van Creveld syndrome | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Curry-Hall syndrome +1 more | |
| | | Insertion (frameshift variant) | Ellis-van Creveld syndrome | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Curry-Hall syndrome +1 more | |
| | | Microsatellite (frameshift variant) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Curry-Hall syndrome +1 more | |
| | | Deletion (frameshift variant) | Ellis-van Creveld syndrome | |
| | | Deletion (frameshift variant) | Ellis-van Creveld syndrome | |
| | | Deletion (frameshift variant) | Ellis-van Creveld syndrome | |
| | | Single nucleotide variant (synonymous variant) | Curry-Hall syndrome +1 more | |
| | | Microsatellite (inframe_deletion) | Ellis-van Creveld syndrome | |
| | | Insertion (frameshift variant) | Ellis-van Creveld syndrome | |
| | | Single nucleotide variant (synonymous variant) | Curry-Hall syndrome +1 more | |
| | | Insertion (frameshift variant) | Ellis-van Creveld syndrome | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +1 more | |
| | | Deletion (frameshift variant) | Ellis-van Creveld syndrome | |
| | | Single nucleotide variant (missense variant) | Curry-Hall syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome +1 more | |
| | | Deletion (splice donor variant) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome +2 more | |
| | | Deletion (frameshift variant) | Ellis-van Creveld syndrome | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome +2 more | |
| | | Insertion (frameshift variant) | Ellis-van Creveld syndrome | |