| | LOC126861339, TIMM8B (E11K) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126861339, TIMM8B (M1T) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126861339, TIMM8B (H4Y) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861339, TIMM8B (E19V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Deletion | Pheochromocytoma +3 more | |
| | | Deletion | Paragangliomas with sensorineural hearing loss +3 more | |
| | | Duplication | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more | |
| | LOC126861339, TIMM8B (K22R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | MISSED ABORTION | |
| | | Duplication | Dilated cardiomyopathy 1II | |
| | | Copy number loss | not provided | |
| | | Deletion | Carney-Stratakis syndrome +3 more | |
| | | Deletion | Ataxia-telangiectasia syndrome | |
| | | Duplication | Cowden syndrome 3 +3 more | |
| | | Deletion | Intellectual disability | |
| | | Duplication | Distal trisomy 11q | |
| | | Deletion | Pheochromocytoma +3 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130006930, LOC130006931 +1199 more | Copy number gain | See cases | |