| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | 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 | |
| | LOC129995831, MCUR1 (P129L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129995831, MCUR1 (P114R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129995831, MCUR1 (S113T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129995831, MCUR1 (L97F) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129995831, MCUR1 (L45V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129995831, MCUR1 (R39G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129995831, MCUR1 (G32D) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129995831, MCUR1 (P31R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | MCUR1, LOC129995831 (Q18R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
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