| | CCDC146, CCDC201 +4735 more | Copy number loss | See cases | |
| | LOC129998995, LOC129998996 +2212 more | Copy number gain | See cases | |
| | LOC129999548, LOC129999549 +1547 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TMEM139-AS1, TMEM140 +1052 more | Copy number gain | See cases | |
| | MIR5707, MIR595 +1046 more | Copy number gain | See cases | |
| | LOC123956245, LOC123956246 +1025 more | Copy number gain | See cases | |
| | LOC285889, LOC349160 +1025 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999467, LOC129999468 +944 more | Copy number loss | See cases | |
| | LOC123956263, LOC126860190 +455 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999526, LOC129999527 +908 more | Copy number gain | See cases | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | LOC129999649, LOC129999650 +737 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129389950, LOC129999513 +707 more | Copy number loss | See cases | |
| | ARHGEF35, ARHGEF35-AS1 +110 more | Copy number loss | See cases | |
| | GSTK1, LOC113687200 +1 more (P5S) | Single nucleotide variant (missense variant) | not specified | |
| | GSTK1, LOC113687200 +1 more (R6P) | Single nucleotide variant (missense variant) | not specified | |
| | GSTK1, LOC113687200 +1 more (T7I) | Single nucleotide variant (missense variant) | not specified | |
| | GSTK1, LOC113687200 +1 more (W20C) | 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 | |
| | GSTK1, TMEM139-AS1 (L97F +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GSTK1, TMEM139-AS1 (A105T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GSTK1, TMEM139-AS1 (A74P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GSTK1, TMEM139-AS1 (A117V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GSTK1, TMEM139-AS1 (R128G +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | GSTK1, TMEM139-AS1 (P173A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GSTK1, TMEM139-AS1 (G134D +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | GSTK1, TMEM139-AS1 (V179M +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | CACNA2D1, CADPS2 +896 more | Complex | Ring chromosome 7 | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Small face +7 more | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ARHGEF35, ARHGEF5 +44 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |