| | ALG3, EEF1AKMT4 +3 more (R115C +2 more) | Single nucleotide variant (missense variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | ECE2, EEF1AKMT4 +1 more (Y20C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ECE2, EEF1AKMT4 +1 more (Y39C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ECE2, EEF1AKMT4 +1 more (E24Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ECE2, EEF1AKMT4 +1 more (G7S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ECE2, EEF1AKMT4 +1 more (R141Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ECE2, EEF1AKMT4 +1 more (D134H) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | EEF1AKMT4, ECE2 +1 more (E12G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | EEF1AKMT4, ECE2 +1 more (V93M) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | EEF1AKMT4, ECE2 +1 more (E75K) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ECE2, EEF1AKMT4 +1 more (L133M) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ECE2, EEF1AKMT4 +1 more (V127A) | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication | Currarino triad | |
| | ABCC5, ABCC5-AS1 +1064 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +205 more | Copy number loss | See cases | |
| | ABCC5, ABCC5-AS1 +627 more | Copy number gain | See cases | |
| | LOC129938004, LOC129938005 +399 more | Copy number loss | See cases | |
| | LOC129937828, LOC129937829 +1244 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +126 more | Copy number loss | See cases | |
| | LINC00578, LINC00880 +1317 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +866 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +1041 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129938023, LOC129938024 +1200 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |