| | 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 | |
| | | Deletion | Charcot-Marie-Tooth disease type 2 | |
| | LOC129931608, PMF1 +1 more (K48Q) | 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 | |
| | | 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 | |
| | PMF1, PMF1-BGLAP (G127R +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PMF1, PMF1-BGLAP (G148A +3 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | PMF1, PMF1-BGLAP (R169W +5 more) | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases | |
| | PMF1, PMF1-BGLAP (H137Y +5 more) | Single nucleotide variant (synonymous variant +2 more) | not specified | |
| | PMF1, PMF1-BGLAP (P150S +5 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | BGLAP, PMF1-BGLAP (A23V +2 more) | Single nucleotide variant (synonymous variant +2 more) | not specified | |
| | BGLAP, PMF1-BGLAP (R128Q +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BGLAP, PMF1-BGLAP (S30Y +2 more) | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | BGLAP, PMF1-BGLAP (P199A +2 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | BGLAP, PMF1-BGLAP (M202V +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | BGLAP, PMF1-BGLAP (P60S +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR 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 | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Chromosome 1q21.1 duplication syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | PMF1-BGLAP, SLC25A44 +11 more | Copy number gain | not specified | |
| | | Deletion | Charcot-Marie-Tooth disease type 2 | |
| | | Duplication | Charcot-Marie-Tooth disease type 2 | |
| | | Duplication | MHC class II deficiency +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 | |
| | | Copy number loss | See cases | |
| | | Inversion | Pediatric metastatic thyroid tumour | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |