| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | CCDC54-AS1, LOC123002328 +682 more | Copy number loss | Chromosome 3q13.31 deletion syndrome | |
| | | Copy number loss | See cases | |
| | LOC115995524, LOC115995525 +2647 more | Copy number gain | See cases | |
| | LOC132088858, LOC132088860 +248 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129937247, LOC129937248 +127 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129937275, LOC129937276 +105 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129937460, LOC129937461 +571 more | Copy number loss | See cases | |
| | CCDC191, ZDHHC23 (E896K +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CCDC191, ZDHHC23 (V890I +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CCDC191, ZDHHC23 (P886S +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CCDC191, ZDHHC23 (R896Q +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CCDC191, ZDHHC23 (E872K +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CCDC191, ZDHHC23 (D833N +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CCDC191, ZDHHC23 (V839M +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CCDC191, ZDHHC23 (K817Q +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CCDC191, ZDHHC23 (I801V +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CCDC191, ZDHHC23 (L797P +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CCDC191, ZDHHC23 (Y806D +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CCDC191, ZDHHC23 (A787V +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CCDC191, ZDHHC23 (R790H +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CCDC191, ZDHHC23 (F766S +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CCDC191, ZDHHC23 (M762L +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CCDC191, ZDHHC23 (H752Y +2 more) | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CCDC191, LOC129937265 (L515R +2 more) | 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 | |
| | | 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 | |
| | CCDC191, LOC129937266 (P27L) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | CCDC191, LOC129937266 (R19L) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | CCDC191, LOC129937266 (M15V +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CCDC191, LOC129937266 (L3P) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Chromosome 3q13.31 deletion syndrome | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Chromosome 3q13.31 deletion syndrome | |
| | | Copy number loss | not specified | |
| | | Copy number loss | Chromosome 3q13.31 deletion syndrome | |
| | CD200R1L, CCDC191 +22 more | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |