| | LOC130058732, LOC130058733 +504 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | SLC5A2-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial renal glucosuria +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | C16orf58-related condition | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial renal glucosuria +1 more | |
| | | Microsatellite (3 prime UTR variant +2 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial renal glucosuria +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Familial renal glucosuria | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Microcephaly | |
| | | Deletion | Branched-chain keto acid dehydrogenase kinase deficiency | |
| | | 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 | |
| | | Complex | Hemimegalencephaly | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number gain | Breast ductal adenocarcinoma | |