| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126807034, TBC1D1 (H328fs) | Microsatellite (frameshift variant) | TBC1D1-related disorder | |
| | LOC126807034, TBC1D1 (R337L) | Single nucleotide variant (missense variant) | TBC1D1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TBC1D1-related disorder | |
| | LOC126807034, TBC1D1 (E357Q) | Single nucleotide variant (missense variant) | TBC1D1-related disorder | |
| | LOC126807034, TBC1D1 (A358T) | Single nucleotide variant (missense variant) | TBC1D1-related disorder | |
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