| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC130065244, MZF1 +1 more (R343L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130065244, MZF1 +1 more (R336H) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC130065244, MZF1 +1 more (E314D) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC130065244, MZF1 +1 more (L307P) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC130065244, MZF1 +1 more (L305P) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
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