| | LOC130057806, LOC130057807 +1763 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130057831, LOC130057832 +664 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130057938, LOC130057939 +611 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121530602, LOC121530603 +517 more | Copy number gain | See cases | |
| | LOC129390732, LOC129390733 +500 more | Copy number gain | See cases | |
| | LOC126862240, LOC126862241 +311 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +422 more | Copy number gain | See cases | |
| | LOC130057887, PEX11A +1 more (N9H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC130057887, PEX11A +1 more (R6H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC130057887, PEX11A +1 more (A3S) | Single nucleotide variant (missense variant +1 more) | 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) | Autistic spectrum disorder with isolated skills | |
| | | 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 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 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | 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 | |
| | MESP1, WDR93 (K454E +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | MESP1, WDR93 (A466T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | MESP1, WDR93 (L512P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | MESP1, WDR93 (E541K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | MESP1, WDR93 (D562G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | MESP1, WDR93 (P616S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | MESP1, WDR93 (P588L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | MESP1, WDR93 (Q611P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANPEP, LOC130057888 +7 more | Copy number loss | See cases | |
| | MESP1, WDR93 (Y627S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | MESP1, WDR93 (R628Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | Bloom syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | D-2-hydroxyglutaric aciduria 2 | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | ARPIN-AP3S2, COMMD4 +472 more | Duplication | Familial colorectal cancer +1 more | |
| | | Copy number loss | See cases | |
| | ARPIN-AP3S2, ZNF710 +11 more | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | 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 | |
| | SLC24A1, SLC28A1 +310 more | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |