| | LOC129996786, LOC129996787 +1449 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126859762, LOC126859763 +460 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Intellectual disability, autosomal dominant 55, with seizures | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129389639, LOC129389640 +254 more | Copy number loss | See cases | |
| | | Deletion | Interstitial 6q microdeletion syndrome | |
| | | 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 (synonymous variant +1 more) | not provided | |
| | CALHM6, CALHM6-AS1 (L111P) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CALHM6, CALHM6-AS1 (N143K) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CALHM6, CALHM6-AS1 (R144S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CALHM6, CALHM6-AS1 +1 more (V153L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CALHM6, CALHM6-AS1 +1 more (P154L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CALHM6, CALHM6-AS1 +1 more (P154R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CALHM6, CALHM6-AS1 +1 more (C155Y) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CALHM6, CALHM6-AS1 (I15T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CALHM6, CALHM6-AS1 (S51R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CALHM6, CALHM6-AS1 (A233V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CALHM6, CALHM6-AS1 (N267S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CALHM6, CALHM6-AS1 (P96L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CALHM6, CALHM6-AS1 (H277P +1 more) | Single nucleotide variant (missense variant) | not specified | |