| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | KCTD14, NDUFC2-KCTD14 (F213C +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | KCTD14, NDUFC2-KCTD14 (F232I +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | NDUFC2-KCTD14, KCTD14 (Q224P +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | KCTD14, NDUFC2-KCTD14 (D182N +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | KCTD14, NDUFC2-KCTD14 (A150V +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | KCTD14, NDUFC2-KCTD14 (E147K +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | KCTD14, NDUFC2-KCTD14 (I131K +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | KCTD14, NDUFC2-KCTD14 (R154H +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | KCTD14, NDUFC2-KCTD14 (E114K +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | NDUFC2-KCTD14, KCTD14 (D50N +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | NDUFC2-KCTD14, KCTD14 (T15A +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | KCTD14, NDUFC2-KCTD14 (H44Q +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | KCTD14, NDUFC2-KCTD14 (R112L +2 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | KCTD14, NDUFC2-KCTD14 (V75M +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | KCTD14, NDUFC2-KCTD14 (G57V +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | MISSED ABORTION | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |