| | LOC123477714, LOC123477715 +1267 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | TRMT44, USP17L10 +633 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129992123, LOC129992124 +461 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992180, LOC129992181 +597 more | Copy number loss | See cases | |
| | LOC129991976, LOC129991977 +346 more | Copy number loss | See cases | |
| | LOC129992081, LOC129992082 +479 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | USP17L22, USP17L24 +569 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992257, LOC129992258 +623 more | Copy number loss | See cases | |
| | LOC129992439, LOC129992440 +1039 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129992004, LOC129992005 +861 more | Copy number gain | See cases | |
| | LOC129992188, LOC129992189 +832 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992143, LOC129992144 +618 more | Copy number gain | See cases | |
| | LOC129992049, LOC129992050 +537 more | Copy number loss | See cases | |
| | LOC123477718, LOC123477719 +987 more | Copy number gain | See cases | |
| | USP17L13, USP17L15 +716 more | Copy number gain | See cases | |
| | LOC129992176, LOC129992177 +439 more | Copy number loss | See cases | |
| | LOC129992238, LOC129992239 +659 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992561, LOC129992562 +1409 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992261, LOC129992262 +962 more | Copy number gain | Neurodevelopmental disorder | |
| | | Deletion | not provided | |
| | LOC129992303, LOC132089075 +365 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Ellis-van Creveld syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Ellis-van Creveld syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Ellis-van Creveld syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Ellis-van Creveld syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Ellis-van Creveld syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Ellis-van Creveld syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR 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 | |
| | | Single nucleotide variant (missense variant) | Curry-Hall syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +1 more | |
| | | Duplication (inframe_insertion) | Meckel-Gruber syndrome | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Curry-Hall syndrome +1 more | |
| | | Microsatellite (inframe_deletion) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Curry-Hall syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Curry-Hall syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Curry-Hall syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Ellis-van Creveld syndrome | |
| | | Single nucleotide variant (missense variant) | Curry-Hall syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Curry-Hall syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Curry-Hall syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Curry-Hall syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Curry-Hall syndrome +1 more | |
| | | 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 (synonymous variant) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Curry-Hall syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Curry-Hall syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Curry-Hall syndrome | |
| | | Single nucleotide variant (nonsense) | Curry-Hall syndrome | |
| | | Single nucleotide variant (nonsense) | Curry-Hall syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Curry-Hall syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +1 more | |
| | | Deletion (frameshift variant) | Curry-Hall syndrome | |
| | | Single nucleotide variant (missense variant) | Curry-Hall syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Curry-Hall syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Curry-Hall syndrome +1 more | |
| | | Deletion (frameshift variant) | Curry-Hall syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Curry-Hall syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome | |