| | ARL14, LOC126806865 (R149G) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ARL14, LOC126806865 (L18R) | Single nucleotide variant (missense variant) | not specified | |
| | ARL14, LOC126806865 (R149W) | Single nucleotide variant (missense variant) | not specified | |
| | ARL14, LOC126806865 (R56S) | Single nucleotide variant (missense variant) | not specified | |
| | ARL14, LOC126806865 (E53K) | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ARL14, LOC126806865 (L145I) | Single nucleotide variant (missense variant) | not specified | |
| | ARL14, LOC126806865 (I113V) | Single nucleotide variant (missense variant) | not specified | |
| | ARL14, LOC126806865 (G167V) | Single nucleotide variant (missense variant) | not specified | |
| | ARL14, LOC126806865 (T137S) | Single nucleotide variant (missense variant) | not specified | |
| | ARL14, LOC126806865 (T44I) | Single nucleotide variant (missense variant) | not specified | |
| | ARL14, LOC126806865 (E162K) | Single nucleotide variant (missense variant) | not specified | |
| | ARL14, LOC126806865 (T132I) | Single nucleotide variant (missense variant) | not specified | |
| | ARL14, LOC126806865 (F47L) | Single nucleotide variant (missense variant) | not specified | |
| | ARL14, LOC126806865 (G161E) | Single nucleotide variant (missense variant) | not specified | |
| | ARL14, LOC126806865 (I42N) | Single nucleotide variant (missense variant) | not specified | |
| | ARL14, LOC126806865 (P128S) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Global developmental delay | |
| | | Copy number gain | See cases | |
| | | Duplication | Growth abnormality | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC108281160, LOC108281177 +1247 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +1245 more | Copy number gain | See cases | |
| | LOC129938169, LOC129938170 +1318 more | Copy number gain | See cases | |
| | LOC115995524, LOC115995525 +2647 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC132088897, LOC132088898 +1201 more | Copy number gain | See cases | |
| | LOC123453201, LOC123453202 +1450 more | Copy number gain | See cases | |
| | LOC129937936, LOC129937937 +631 more | Copy number gain | See cases | |