| | | Copy number gain | See cases | |
| | LOC129932391, PIK3C2B +278 more | Deletion | Autism | |
| | LOC129388734, LOC129388735 +723 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | 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 (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 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FCAMR, LOC126805992 (S210N) | Single nucleotide variant (missense variant) | not specified | |
| | FCAMR, LOC126805992 (S202T) | Single nucleotide variant (missense variant) | not specified | |
| | FCAMR, LOC126805992 (Q142H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | FCAMR, LOC126805992 (R169C) | Single nucleotide variant (missense variant) | not specified | |
| | FCAMR, LOC126805992 (Y166C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | FCAMR, LOC126805992 (R165H) | Single nucleotide variant (missense variant) | not specified | |
| | FCAMR, LOC126805992 (R149G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | FCAMR, LOC126805992 (G146E) | Single nucleotide variant (missense variant) | not specified | |
| | FCAMR, LOC126805992 (R144H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | FCAMR, LOC126805992 (C127Y) | Single nucleotide variant (missense variant) | not specified | |
| | FCAMR, LOC126805992 (A122T) | 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 | |
| | | Deletion | not provided | |
| | | 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 | |