| | LOC129938172, MB21D2 (S13F) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129938172, MB21D2 (A12T) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | Isolated anorectal malformation | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | 3q28q29 deletion syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ATP13A4, ATP13A4-AS1 +180 more | Deletion | Schizophrenia | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129938260, LOC129938261 +1064 more | Copy number gain | See cases | |
| | LOC108281160, LOC108281177 +1247 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +1245 more | Copy number gain | See cases | |
| | LOC129938169, LOC129938170 +1318 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129938282, LOC129938283 +866 more | Copy number gain | See cases | |
| | ADIPOQ, ADIPOQ-AS1 +237 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129938077, LOC129938078 +1041 more | Copy number gain | See cases | |
| | LOC115995524, LOC115995525 +2647 more | Copy number gain | See cases | |
| | LOC126806930, LOC126806931 +375 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC132088897, LOC132088898 +1201 more | Copy number gain | See cases | |
| | LOC123453201, LOC123453202 +1450 more | Copy number gain | See cases | |
| | ATP13A3, ATP13A3-DT +226 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |