| | LINC02522, LINC02525 +823 more | Copy number gain | See cases | |
| | LOC132089500, LOC132090749 +641 more | Copy number gain | See cases | |
| | LOC129995714, LOC129995715 +777 more | Copy number gain | See cases | |
| | LOC129995520, LOC129995521 +610 more | Copy number loss | See cases | |
| | LOC121106426, LOC121113497 +557 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC02521, LINC02522 +508 more | Copy number gain | See cases | |
| | LOC129995778, LOC129995779 +571 more | Copy number gain | See cases | |
| | LOC129995630, LOC129995631 +536 more | Copy number gain | See cases | |
| | LOC129389446, LOC129389447 +617 more | Copy number loss | See cases | |
| | LOC129995913, LOC129995914 +1340 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | ADULT i BLOOD GROUP PHENOTYPE | |
| | | Single nucleotide variant (nonsense) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (missense 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) | ADULT i BLOOD GROUP PHENOTYPE | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | GCNT2-related condition | |
| | | Single nucleotide variant (missense variant) | GCNT2-related condition | |
| | | Single nucleotide variant (synonymous variant) | GCNT2-related condition | |
| | | Single nucleotide variant (synonymous variant) | GCNT2-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | GCNT2-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Indel (intron variant) | Adult i blood group with or without congenital cataract | |
| | | Single nucleotide variant (intron variant) | Blood group, I system | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Blood group, I system | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Blood group, I system | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Blood group, I system | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Blood group, I system | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Blood group, I system | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Blood group, I system | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Blood group, I system | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Blood group, I system | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Blood group, I system | |
| | | Single nucleotide variant (intron variant +1 more) | Blood group, I system | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Blood group, I system | |
| | | Single nucleotide variant (missense variant +1 more) | Blood group, I system +2 more | |
| | | Microsatellite (inframe_deletion +1 more) | Adult i blood group with or without congenital cataract | |
| | | Deletion (frameshift variant +1 more) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Duplication (frameshift variant +1 more) | Blood group, I system | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cataract 13 with adult I phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Cataract 13 with adult I phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Blood group, I system | |
| | | Single nucleotide variant (intron variant +1 more) | Blood group, I system +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blood group, I system | |
| | | Single nucleotide variant (missense variant +1 more) | Blood group, I system | |
| | | Single nucleotide variant (missense variant +1 more) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Blood group, I system | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Blood group, I system | |
| | | Single nucleotide variant (missense variant +1 more) | Blood group, I system +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Blood group, I system | |
| | | Single nucleotide variant (missense variant +1 more) | Blood group, I system | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cataract 13 with adult I phenotype +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant +1 more) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (intron variant +1 more) | not provided +2 more | |
| | | Insertion (frameshift variant +1 more) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | |
| | | Deletion (frameshift variant +1 more) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Blood group, I system | |
| | | Single nucleotide variant (missense variant +1 more) | Blood group, I system | |
| | | Single nucleotide variant (missense variant +1 more) | Blood group, I system | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cataract 13 with adult I phenotype | |
| | | Single nucleotide variant (intron variant) | Blood group, I system | |
| | | Single nucleotide variant (intron variant) | Blood group, I system | |
| | | Deletion (intron variant) | not provided | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | GCNT2-related condition | |