| | LOC115995524, LOC115995525 +2647 more | Copy number gain | See cases | |
| | LOC123453201, LOC123453202 +1450 more | Copy number gain | See cases | |
| | LOC129938169, LOC129938170 +1318 more | Copy number gain | See cases | |
| | LOC108281160, LOC108281177 +1247 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +1245 more | Copy number gain | See cases | |
| | LOC132088897, LOC132088898 +1201 more | Copy number gain | See cases | |
| | LOC129938260, LOC129938261 +1064 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +627 more | Copy number gain | See cases | |
| | LOC129938077, LOC129938078 +1041 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129938282, LOC129938283 +866 more | Copy number gain | See cases | |
| | | Duplication | Currarino triad | |
| | ABCC5, ABCC5-AS1 +399 more | Copy number loss | See cases | |
| | ABCC5, ABCC5-AS1 +205 more | Copy number loss | See cases | |
| | LOC121048724, LOC121048725 +160 more | Copy number loss | Esodeviation +7 more | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +126 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | ALG3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (nonsense +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | ALG3-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | ALG3-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | ALG3-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | ALG3-congenital disorder of glycosylation | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | ALG3-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | ALG3-congenital disorder of glycosylation +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | ALG3-congenital disorder of glycosylation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |