| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number gain | See cases | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | SLC16A12-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | SLC16A12, SLC16A12-AS1 (W49G) | Single nucleotide variant (missense variant) | not provided | |
| | SLC16A12, SLC16A12-AS1 (S41Y) | Single nucleotide variant (missense variant) | Juvenile cataract-microcornea-renal glucosuria syndrome +1 more | |
| | SLC16A12, SLC16A12-AS1 (R38Q) | Single nucleotide variant (missense variant) | not provided | |
| | SLC16A12, SLC16A12-AS1 (V34I) | Single nucleotide variant (missense variant) | not specified | |
| | SLC16A12, SLC16A12-AS1 (K33E) | Single nucleotide variant (missense variant) | not provided | |
| | SLC16A12, SLC16A12-AS1 (W17G) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | SLC16A12, SLC16A12-AS1 (I14V) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SLC16A12, SLC16A12-AS1 (S5G) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
Click to view in NCBI Gene