| | | Copy number loss | See cases | |
| | LOC130055392, LOC130055393 +780 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC125048431, LOC125048432 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC112214170, LOC112214171 +840 more | Copy number loss | See cases | |
| | LOC124958010, LOC124958011 +529 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | 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 | |
| | LOC130055276, METTL17 (S92T) | 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 provided | |
| | | 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 | |
| | LOC101929718, METTL17 (K319R) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC101929718, METTL17 (P332R) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC101929718, LOC126861882 +1 more (A352V) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC101929718, LOC126861882 +1 more (P364R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101929718, LOC126861882 +1 more (M371V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101929718, LOC126861882 +1 more (R376Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101929718, LOC126861882 +1 more (G377R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101929718, LOC126861882 +1 more (G377E) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101929718, LOC126861882 +1 more (R384C) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101929718, LOC126861882 +1 more (R384H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101929718, LOC126861882 +1 more (R397H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101929718, LOC126861882 +1 more (S438G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC101929718, LOC126861882 +1 more (T449M) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | LOC101929718, LOC126861882 +1 more (G476V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Deletion | Purine-nucleoside phosphorylase deficiency | |
| | | Copy number loss | not provided | |
| | ARHGEF40, METTL17 +10 more | Copy number gain | not provided | |
| | | Copy number gain | Seizure | |
| | | Deletion | Brain-lung-thyroid syndrome | |
| | | Copy number gain | not specified | |
| | | Copy number gain | 14q11.2 microduplication | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ARHGEF40, BCL2L2 +152 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |