| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | ECHDC3, LOC130003333 (R8Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ECHDC3, LOC130003333 (M16V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ECHDC3, LOC130003333 (G55A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ECHDC3, LOC130003333 (I56L) | 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) | Inborn genetic diseases | |
| | | 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) | Inborn genetic diseases | |
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