| | LOC129937268, LOC129937269 +2645 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129938007, LOC129938008 +1317 more | Copy number gain | See cases | |
| | LOC129938312, LOC129938313 +1246 more | Copy number gain | See cases | |
| | LOC129937897, LOC129937898 +1244 more | Copy number gain | See cases | |
| | LOC129938023, LOC129938024 +1200 more | Copy number gain | See cases | |
| | LOC129938326, LOC129938327 +1064 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +627 more | Copy number gain | See cases | |
| | LOC129938320, LOC129938321 +1041 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +867 more | Copy number gain | See cases | |
| | | 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) | ALG3-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | ALG3-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 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) | ALG3-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | ALG3-related disorder +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 +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) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | ALG3-congenital disorder of glycosylation +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) | ALG3-congenital disorder of glycosylation | |
| | | 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) | ALG3-congenital disorder of glycosylation +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-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | ALG3-related disorder +2 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-related disorder +2 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) | 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) | 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 | |
| | | Single nucleotide variant (synonymous variant +1 more) | ALG3-congenital disorder of glycosylation | |