| | NXPE1, NXPE2 (R452C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (D212N +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (K257E +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (D233H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (S412P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (R358C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (P262L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (S213F +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (I340M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (R158K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (R147H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (A189S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (E340Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | not provided | |
| | NXPE1, NXPE2 (R147C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (G32V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (T259N +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (G282R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (T527A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (N368S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (Y350H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (C244R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (N537S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (A10T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (I292M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (H215R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (K384N +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (T394I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (A291T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (L178M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (H299R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (T81S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (S84P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (R421W +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | NXPE1, NXPE2 (L126V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | MISSED ABORTION | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Intellectual disability | |
| | | Duplication | Distal trisomy 11q | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | NXPE1, NXPE2 (G318S +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |
| | SLC37A4, SNORD26 +1289 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | AASDHPPT, ABCG4 +1199 more | Copy number gain | See cases | |
| | LOC130006895, LOC130006896 +355 more | Copy number gain | See cases | |