| | LOC123956263, LOC123956264 +4737 more | Copy number loss | See cases | |
| | LOC129999343, LOC129999344 +2213 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | DNAJC2, PMPCB (A542T +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DNAJC2, PMPCB (L525I +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DNAJC2, PMPCB (D538N +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DNAJC2, PMPCB (F498L +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DNAJC2, PMPCB (D550G +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DNAJC2, PMPCB (G400V +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DNAJC2, PMPCB (E471A +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | DNAJC2, PMPCB (F398V +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | DNAJC2, PMPCB (R469L +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | DNAJC2, PMPCB (R397Q +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | DNAJC2, PMPCB (E542G +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | DNAJC2, PMPCB (T539M +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | DNAJC2, PMPCB (D536G +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | DNAJC2, PMPCB (G501S +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | DNAJC2, PMPCB (S490C +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | DNAJC2, PMPCB (G299D +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | DNAJC2, PMPCB (A383G +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | DNAJC2, PMPCB (R432C +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | DNAJC2, PMPCB (C248W +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DNAJC2, PMPCB (R312Q +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DNAJC2, PMPCB (I203V +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | DNAJC2, PMPCB (E236D +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | DNAJC2, PMPCB (A162T +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | DNAJC2, PMPCB (K221R +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | DNAJC2, PMPCB (E146A +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | DNAJC2, PMPCB (C202R +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | DNAJC2, PMPCB (D210E +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | DNAJC2, PMPCB (Y145F +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DNAJC2, LOC121175357 +11 more | Copy number loss | See cases | |
| | DNAJC2, PMPCB (E132G +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DNAJC2, PMPCB (K48R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DNAJC2, PMPCB (R105G +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Copy number loss | See cases | |
| | CACNA2D1, CADPS2 +896 more | Complex | Ring chromosome 7 | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Deletion | Norman-Roberts syndrome +1 more | |
| | | Duplication | Norman-Roberts syndrome +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Pleomorphic xanthoastrocytoma | |
| | | Inversion | Childhood apraxia of speech | |