| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC129388544, LOC129930727 +2 more (S344P +5 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129388544, MIER1 +1 more (T460I +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC129388544, MIER1 +1 more (A458T +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC129388544, MIER1 +1 more (L430F +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
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