| | | Copy number loss | See cases | |
| | LOC123956257, LOC123956258 +2213 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Multiple congenital anomalies/dysmorphic syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ATP5MF-PTCD1, BUD31 +1 more (R104P) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | ATP5MF-PTCD1, BUD31 +1 more (V121M) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | ATP5MF-PTCD1, BUD31 +1 more (S143C) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ATP5MF-PTCD1, PTCD1 (C695Y +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (G743R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (G743R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (E690D +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (P671L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (A716T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | PTCD1, ATP5MF-PTCD1 (Q660* +1 more) | Single nucleotide variant (nonsense) | not provided | |
| | ATP5MF-PTCD1, PTCD1 (N645S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (Q627H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (R626H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (V667I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (A596T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (N595Y +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (Q582P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (P568L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (N554H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (P544L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (G538E +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (S531R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (A558V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (G500R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (E495K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (T491M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (I468T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (T457A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (V452A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (V448I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ATP5MF-PTCD1, PTCD1 (A428T +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ATP5MF-PTCD1, PTCD1 (K466Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (P412S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (G457S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (P363A +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ATP5MF-PTCD1, PTCD1 (R411W +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (E399K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (R330P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (A328T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (R301W +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (G291C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (L289P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (H324R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | PTCD1, ATP5MF-PTCD1 (A301V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (A301T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (F243L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (R235W +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (E269G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (E220K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (E205G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (M199I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (N194D +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (K190R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ATP5MF-PTCD1, PTCD1 (I180T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (V227G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (T226M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (K148Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (P185R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (R132Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (R130Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (K176R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (F163V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (R113L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (A155T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (R152H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (R103C +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | ATP5MF-PTCD1, PTCD1 (R99W +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (T140I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (T127M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ATP5MF-PTCD1, PTCD1 (E107Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (G56S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (L102R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (A44V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ATP5MF-PTCD1, PTCD1 (R84M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (Q71R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (M16V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (A11S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, PTCD1 (R57Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ATP5MF-PTCD1, CPSF4 (V153A +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ATP5MF, ATP5MF-PTCD1 (V68M +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ATP5MF, ATP5MF-PTCD1 (M68T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ATP5MF, ATP5MF-PTCD1 (Y52C +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Deletion | not provided | |
| | | Copy number loss | not specified | |
| | ATP5MF, ATP5MF-PTCD1 +5 more | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Copy number loss | See cases | |