| | GSTK1, TMEM139-AS1 (A263V +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | GSTK1, TMEM139-AS1 (M191L +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | See cases | |
| | GSTK1, TMEM139-AS1 (G134D +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | GSTK1, TMEM139-AS1 (A117V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GSTK1, TMEM139-AS1 (A105T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GSTK1, LOC113687200 +1 more (P5S) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | not provided | |
| | LOC129999716, LOC129999717 +847 more | Copy number gain | Neurodevelopmental disorder | |
| | EPHA1-AS1, EPHB6 +888 more | Copy number gain | Neurodevelopmental disorder | |
| | GSTK1, TMEM139-AS1 (V179M +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | GSTK1, TMEM139-AS1 (A74P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GSTK1, TMEM139-AS1 (P173A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GSTK1, LOC113687200 +1 more (R6P) | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | not provided | |
| | GSTK1, TMEM139-AS1 (L97F +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | GSTK1, LOC113687200 +1 more (T7I) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GSTK1, LOC113687200 +1 more (W20C) | Single nucleotide variant (missense variant) | not specified | |
| | | 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 | Abnormal facial shape +7 more | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GSTK1, TMEM139-AS1 (R128G +1 more) | Single nucleotide variant (missense variant) | 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 | |
| | PRKAG2, PRKAG2-AS1 +1052 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129389895, LOC129389896 +1046 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999635, LOC129999636 +944 more | Copy number loss | See cases | |
| | LOC129999721, LOC129999722 +707 more | Copy number loss | See cases | |
| | LOC123956257, LOC123956258 +2213 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | TRC-GCA9-3, TRC-GCA9-4 +1019 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ARHGEF35, ARHGEF35-AS1 +110 more | Copy number loss | See cases | |