| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | 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 (missense variant) | Inborn genetic diseases +1 more | |
| | ALG1, LOC130058384 (V39fs) | Deletion (frameshift variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation +1 more | |
| | | 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 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Encephalopathy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ALG1, EEF2KMT (P319T +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | ALG1, EEF2KMT (A320E +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | ALG1, EEF2KMT (R327W +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | ALG1-congenital disorder of glycosylation +1 more | GPathogenic/Likely pathogenic |
| | ALG1, EEF2KMT (L447F +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | ALG1, EEF2KMT (R337Q +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | ALG1, EEF2KMT (T464P +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | ALG1, EEF2KMT (N266T +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ALG1, EEF2KMT (M262V +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ALG1, EEF2KMT (R275H +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ALG1, EEF2KMT (R238Q +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |