| | | Copy number gain | See cases | |
| | | 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 | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (nonsense) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Duplication (inframe_insertion) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Duplication (inframe_insertion) | ALG1-congenital disorder of glycosylation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation +2 more | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Insertion (inframe_insertion) | ALG1-congenital disorder of glycosylation | |
| | | Duplication (inframe_insertion) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Microsatellite (inframe_insertion) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant | not specified +2 more | |
| | | Single nucleotide variant (nonsense) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Deletion (frameshift variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Deletion (frameshift variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | ALG1, LOC130058384 (V39fs) | Deletion (frameshift variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | ALG1, LOC130058384 (L56fs) | Duplication (frameshift variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation | |