| | LOC132089226, LOC132089227 +1167 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129995440, LOC129995441 +864 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129995145, LSM11 (S10W) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129995145, LSM11 (A17G) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129995145, LSM11 (N49D) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129995145, LSM11 (A57E) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129995145, LSM11 (G69D) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129995145, LSM11 (G70S) | Single nucleotide variant (missense variant) | LSM11-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | LOC129995145, LSM11 (A81G) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129995145, LSM11 (G85V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129995145, LSM11 (V86I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129995145, LSM11 (P90T) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129995145, LSM11 (R97G) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129995145, LSM11 (A102G) | 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) | Aicardi-Goutieres syndrome 8 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | LSM11-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Hunter-McAlpine craniosynostosis | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |