| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC129999151, MDFIC (R62del) | Microsatellite (5 prime UTR variant +1 more) | MDFIC-related disorder | |
| | LOC129999150, MDFIC (G44C) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | MDFIC, LOC129999151 (G71V) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | LOC129999151, MDFIC (F52L) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | LOC129999150, MDFIC (V35D) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | LOC129999150, MDFIC (V35I) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | LOC129999152, MDFIC (V13L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129999152, MDFIC (M110L +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC129999152, MDFIC (M1K +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
Click to view in NCBI Gene