| | | Copy number gain | See cases | |
| | AVPR1B, AVPR1B-DT +278 more | Deletion | Autism | |
| | LOC129388734, LOC129388735 +723 more | Copy number gain | See cases | |
| | PFKFB2, YOD1 (N344S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | PFKFB2, YOD1 (G210A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | PFKFB2, YOD1 (K214E +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | PFKFB2, YOD1 (T205K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | PFKFB2, YOD1 (A156T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | PFKFB2, YOD1 (Y153C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | PFKFB2, YOD1 (R183S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | PFKFB2, YOD1 (E181K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | PFKFB2, YOD1 (P136R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | PFKFB2, YOD1 (R107S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | PFKFB2, YOD1 (C97Y +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | PFKFB2, YOD1 (G41C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Duplication | Inflammatory bowel disease +1 more | |
| | | Duplication | Gastrointestinal stromal tumor +2 more | |
| | | Copy number gain | not provided | |
| | C1orf35, C1orf74 +320 more | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Global developmental delay +2 more | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |