| | LOC129931453, LOC129931454 +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 | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | LOC111828496, SMG5 +1 more | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | LOC111828496, SMG5 +1 more (S336T) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | LOC111828496, SMG5 +1 more (G343A) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | LOC111828496, SMG5 +1 more (L349V) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | LOC111828496, SMG5 +1 more (M360V) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | LOC111828496, SMG5 +1 more (P365L) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | LOC111828496, TMEM79 (P379S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC111828496, TMEM79 (P379L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC111828496, TMEM79 (W393R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | Chromosome 1q21.1 duplication syndrome | |
| | | Deletion | Charcot-Marie-Tooth disease type 2 | |
| | | Duplication | Charcot-Marie-Tooth disease type 2 | |
| | | Duplication | Kostmann syndrome +3 more | |
| | | Duplication | Parathyroid carcinoma +2 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Fusion | Congenital fibrosarcoma | |
| | | Copy number gain | not provided | |
| | ARHGEF11, ARHGEF2 +57 more | Copy number loss | not provided | |
| | | Inversion | Pediatric metastatic thyroid tumour | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | GPATCH2, GPATCH3 +2014 more | Copy number gain | See cases | |