| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ATP5MF-PTCD1, BUD31
+1 more (R104P) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | ATP5MF-PTCD1, BUD31
+1 more (S143C) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | ATP5MF-PTCD1, PTCD1 (E399K +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ATP5MF-PTCD1, PTCD1 (R99W +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
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