| | HCRTR1, PEF1 (M168V +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HCRTR1, PEF1 (R100H +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HCRTR1, PEF1 (N147S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HCRTR1, PEF1 (K140R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HCRTR1, PEF1 (P112S +1 more) | 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) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC112577491, LOC112577504 +2149 more | Copy number gain | Trisomy 12p | |
| | | 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 | |
| | HCRTR1, PEF1 (R162C +1 more) | 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 | |
| | HCRTR1, PEF1 (Y104C +1 more) | 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) | not specified | |
| | HCRTR1, PEF1 (R228H +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HCRTR1, PEF1 (R195Q +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | HCRTR1, PEF1 (Q124H +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HCRTR1, PEF1 (R188Q +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | HCRTR1, PEF1 (I201V +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | HCRTR1, PEF1 (Y63C +1 more) | 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 | |
| | HCRTR1, PEF1 (A263D +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HCRTR1, PEF1 (S128L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HCRTR1, PEF1 (T207A +1 more) | 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 | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | not provided | |
| | ANGPTL7, C1orf127 +783 more | Copy number gain | Intellectual disability, mild +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129929733, LOC129929734 +1145 more | Copy number gain | See cases | |
| | LOC129929998, LOC129929999 +293 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129930033, LOC129930034 +117 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |