| | | 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 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | Charcot-Marie-Tooth disease type 1E | |
| | | Copy number loss | Hereditary liability to pressure palsies | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 81 | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 81 | |
| | | Indel (nonsense) | Spermatogenic failure 81 | |
| | | 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 | |
| | | 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 | |
| | | 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 | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | 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 | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | ADORA2B, ARHGAP44 +228 more | Duplication | not specified | |
| | | Complex | PMP22-RAI1 contiguous gene duplication syndrome | |
| | | Copy number loss | Hereditary liability to pressure palsies | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ADORA2B, ARHGAP44 +18 more | Copy number loss | Hereditary liability to pressure palsies | |
| | | Copy number gain | Charcot-Marie-Tooth disease, type IA | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Charcot-Marie-Tooth disease, type IA | |
| | | Copy number gain | Positional foot deformity +1 more | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Hereditary liability to pressure palsies | |
| | | Copy number gain | Charcot-Marie-Tooth disease, type IA | |
| | | Copy number loss | Hereditary liability to pressure palsies | |
| | | Copy number gain | Charcot-Marie-Tooth disease, type IA | |
| | | Copy number loss | Hereditary liability to pressure palsies | |
| | | Copy number gain | Charcot-Marie-Tooth disease, type IA | |
| | | Copy number loss | Hereditary liability to pressure palsies | |
| | | Duplication | Charcot-Marie-Tooth disease, type IA | |
| | | Duplication | Charcot-Marie-Tooth disease, type I | |
| | TVP23C, TVP23C-CDRT4 +5 more | Duplication | Charcot-Marie-Tooth disease, type I | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Autism | |
| | | Deletion | Schizophrenia | |
| | | Copy number loss | Attention deficit hyperactivity disorder +3 more | |
| | | Copy number loss | Steppage gait +3 more | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |