| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | KCNMB1-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | KCNMB1-related condition | |
| | | 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 | |
| | | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Hunter-McAlpine craniosynostosis | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Copy number loss | Atrial septal defect 7 | |
| | | 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 loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC100128059, LCP2 +2 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129995377, LOC129995378 +676 more | Copy number gain | See cases | |
| | LOC129995188, LOC129995189 +863 more | Copy number gain | See cases | |
| | ADAM19, ADAMTS2 +1166 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | KCNMB1-related condition | |