| | LOC132088675, LOC132088682 +1585 more | Copy number gain | See cases | |
| | ADAM15, ADAM15-EFNA4 +297 more | Copy number gain | See cases | |
| | ARHGEF2, ARHGEF2-AS2 +90 more | Copy number gain | See cases | |
| | ARHGEF2-AS2, ARHGEF2 +44 more | Duplication | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | LAMTOR2-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LAMTOR2, LOC129931594 (N59fs) | Deletion (frameshift variant) | not provided | |
| | LAMTOR2, LOC129931594 (N61H) | Single nucleotide variant (missense variant) | not provided | |
| | LAMTOR2, LOC129931594 (A63T) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LAMTOR2, LOC129931594 (F71L) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | LAMTOR2, LOC129931594 (F71L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Chromosome 1q21.1 duplication syndrome | |
| | | Copy number gain | not provided | |
| | PMF1-BGLAP, SLC25A44 +11 more | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Deletion | Charcot-Marie-Tooth disease type 2 | |
| | | Duplication | Charcot-Marie-Tooth disease type 2 | |
| | | Duplication | MHC class II deficiency +3 more | |
| | | Duplication | not provided | |
| | | Duplication | Paragangliomas 3 +2 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ARHGEF11, ARHGEF2 +57 more | Copy number loss | not provided | |
| | | Inversion | Pediatric metastatic thyroid tumour | |
| | | Copy number gain | not provided | |
| | | Deletion | Noonan syndrome 8 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |