| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126807536, YIPF5 (V110I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126807536, YIPF5 (D101E +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome 2 | |
| | LOC126807536, YIPF5 (M122V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126807536, YIPF5 (G97V +1 more) | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome 2 | |
| | LOC126807536, YIPF5 (I98S +1 more) | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome 2 | |
| | LOC126807536, YIPF5 (K106del +1 more) | Deletion (inframe_deletion) | Microcephaly, epilepsy, and diabetes syndrome 2 | |
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