| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130059863, TLCD3A (A22P) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130059863, TLCD3A (G14R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130059863, TLCD3A (M37L) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Fraser syndrome 3 | |
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