| 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 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | HMX2, LOC124416925 (R244H) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC124416925, HMX2 (P249L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC124416925, HMX2 (Y268C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
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